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1. Exposure to low-dose ionising radiation from cardiac catheterisation and risk of cancer: the COCCINELLE study cohort profile

Author: Damien Bonnet, Claire Dauphin, Stéphanie Douchin, Sarah Cohen, Estelle Rage, Clément Karsenty, Jean-Benoît Thambo, FRANCOIS GODART, Klervi Leuraud, Marie-Odile Bernier, Caroline Ovaert, Jean-François Piéchaud, Sébastien Hascoet, Kossi Dovene Abalo, Sophie Malekzadeh-Milani, Serge Dreuil, Tiphaine Feuillet, Sylvie Di Filippo, Patrice Guérin, Pauline Helms, Bruno Lefort, and Pierre Mauran
Subjects: Medicine
Abstract: Purpose The COCCINELLE study is a nationwide retrospective French cohort set up to evaluate the risk of cancer in patients who undergone cardiac catheterisation (CC) procedures for diagnosis or treatment of congenital heart disease during childhood.Participants Children who undergone CC procedures from 1 January 2000 to 31 December 2013, before the age of 16 in one of the 15 paediatric cardiology departments which perform paediatric CC in mainland France were included. The follow-up started at the date of the first recorded CC procedure until the exit date, that is, the date of death, the date of first cancer diagnosis, the date of the 18th birthday or the 31 December 2015, whichever occurred first. The cohort was linked to the National Childhood Cancer Registry to identify patients diagnosed with cancer and with the French National Directory for the Identification of Natural Persons to retrieve the patients’ vital status.Findings to date A total of 17 104 children were included in the cohort and followed for 110 335 person-years, with 22 227 CC procedures collected. Among the patients, 81.6% received only one procedure. Fifty-nine cancer cases were observed in the cohort. Standardised incidence ratios (SIRs) were increased for all-cancer (SIR=3.8, 95% CI: 2.9 to 4.9), leukaemia (SIR=3.3, 95% CI: 2.0 to 5.4), lymphoma (SIR=14.9, 95% CI: 9.9 to 22.5) and solid cancers excluding central nervous system (CNS) tumours (SIR=3.3, 95% CI: 2.0 to 5.5) compared with the general population.Future plans Dose reconstruction is currently underway to estimate individual cumulative doses absorbed to relevant organs, including red bone marrow and brain for respectively haematologic disorders and CNS tumours risk estimation. A dose–response analysis will be conducted with consideration to confounding factors such as age at exposure, gender, predisposing factors to cancer and other sources of medical diagnostic low-dose ionising radiation.
Published: 2021
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2. Septal alcoholization in hypertrophic cardiomyopathy: about 11 cases

Author: Yibar Kambire, Georges Rosario Christian Millogo, Claire Dauphin, and Jean-Rene Lusson
Subjects: hypertrophic obstructive cardiomyopathy, therapy, septal alcohol ablation, Medicine
Abstract: Outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy are not enough studied in all centers. The purpose of this study was to determine the outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy in our hospital. A retrospective and prospective descriptive study focused on all patients aged at least 18 years treated by alcohol septal ablation between July 2005 and June 2010 in the cardiology unit of Clermont-Ferrand teaching Hospital. The inclusion criteria were, hypertrophic obstructive cardiomyopathy with left ventricular outflow tract obstruction e" 50 mmHg, symptomatic despite optimal medical therapy. The clinical, paraclinical data and the results of alcohol ablation were collected from medical records of patients and a telephone conversation with the patients or their physicians. These data were analyzed by EPI info 6.04. Eleven patients with average age of 56.27, 15, 83 were included of which 81.8% of men. The main indications of alcohol septal were dyspnea stage NYHA II-IV (45.5%), lipothymia (18.2%) and invalidating angina (18.2%). Main electrocardiographic abnormalities were left ventricular hypertrophy and disorders of repolarization with 72.7% each. Minor conductive disorders were found in 45.5% of the cases. The left ventricular outflow tract obstruction was 98.18 , 25.93 mmHg before alcohol septal ablation and 18.91 , 31.97 mmHg after a follow-up of 25.64 , 21.97 months. The success rate was 81.8%. Conductive disorders (45.5%) required the establishment of a definitive pacemaker in 36.4% of the patients. A cardiac defibrillator was implanted at 27.3%. Septal alcoholization was succesful.
Published: 2017
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3. Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.

Author: Maximilian G Posch, Stephan Waldmuller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A Andrade-Navarro, Bernard De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff, Katharina R Schmitt, Andreas Perrot, Felix Berger, Roland Hetzer, Patrice Bouvagnet, and Cemil Özcelik
Subjects: Medicine, Science
Abstract: Secundum-type atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD) and are associated with a familial risk. Mutations in transcription factors represent a genetic source for ASDII. Yet, little is known about the role of mutations in sarcomeric genes in ASDII etiology. To assess the role of sarcomeric genes in patients with inherited ASDII, we analyzed 13 sarcomeric genes (MYH7, MYBPC3, TNNT2, TCAP, TNNI3, MYH6, TPM1, MYL2, CSRP3, ACTC1, MYL3, TNNC1, and TTN kinase region) in 31 patients with familial ASDII using array-based resequencing. Genotyping of family relatives and control subjects as well as structural and homology analyses were used to evaluate the pathogenic impact of novel non-synonymous gene variants. Three novel missense mutations were found in the MYH6 gene encoding alpha-myosin heavy chain (R17H, C539R, and K543R). These mutations co-segregated with CHD in the families and were absent in 370 control alleles. Interestingly, all three MYH6 mutations are located in a highly conserved region of the alpha-myosin motor domain, which is involved in myosin-actin interaction. In addition, the cardiomyopathy related MYH6-A1004S and the MYBPC3-A833T mutations were also found in one and two unrelated subjects with ASDII, respectively. No mutations were found in the 11 other sarcomeric genes analyzed. The study indicates that sarcomeric gene mutations may represent a so far underestimated genetic source for familial recurrence of ASDII. In particular, perturbations in the MYH6 head domain seem to play a major role in the genetic origin of familial ASDII.
Published: 2011
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4. Lympho-hematopoietic malignancies risk after exposure to low dose ionizing radiation during cardiac catheterization in childhood

Author: Kossi D Abalo, Sophie Malekzadeh-Milani, Sébastien Hascoët, Serge Dreuil, Tiphaine Feuillet, Cecilia Damon, Hélène Bouvaist, Ivan Bouzguenda, Sarah Cohen, Claire Dauphin, Sylvie Di Filippo, Stéphanie Douchin, François Godart, Patrice Guérin, Pauline Helms, Clément Karsenty, Bruno Lefort, Pierre Mauran, Caroline Ovaert, Jean-François Piéchaud, Jean-Benoît Thambo, Choonsik Lee, Mark P Little, Damien Bonnet, Marie-Odile Bernier, and Estelle Rage
Subjects: Epidemiology
Published: 2023

5. Efficacy, Safety and Characteristics of the Amplatzer Vascular Plug II and IV Utilization for Various Percutaneous Occlusions in Children under 10 Years

Author: Hugues Lucron, Alban-Elouen Baruteau, Caroline Ovaert, Ali Houeijeh, M閘anie Brard, Patrice Guerin, Fran鏾is Bourlon, Claire Dauphin, Saskia Tuttle, Maha Tagorti, Rishika Banydeen, and Fran鏾is Godart
Subjects: Pediatrics, Perinatology and Child Health, Radiology, Nuclear Medicine and imaging, Surgery, General Medicine, Cardiology and Cardiovascular Medicine
Published: 2022

6. Association between Initial Treatment Strategy and Long-Term Survival in Pulmonary Arterial Hypertension

Author: Vincent Cottin, David Montani, Jérémie Pichon, Martine Reynaud-Gaubert, Xavier Jaïs, Pascal Magro, Gérald Simonneau, Florence Parent, Fabrice Bauer, Marianne Riou, Laurent Bertoletti, Pamela Moceri, Ari Chaouat, Andrei Seferian, Antoine Beurnier, Sébastien Renard, Pierre Mauran, Delphine Horeau-Langlard, Pascal de Groote, Laurent Savale, Mitja Jevnikar, Sophie Bulifon, Pascal Roblot, Hélène Bouvaist, Yuanchao Feng, Patrice Poubeau, Sylvain Palat, Zhiying Liang, Emmanuel Bergot, François Picard, Etienne-Marie Jutant, C. Chabanne, Olivier Sitbon, Athénaïs Boucly, Grégoire Prévot, Jean-François Mornex, Cécile Tromeur, Marc Humbert, Bruno Degano, Claire Dauphin, Arnaud Bourdin, Olivier Sanchez, Nicolas Favrolt, Jason Weatherald, Hypertension arterielle pulmonaire physiopathologie et innovation thérapeutique, Centre chirurgical Marie Lannelongue-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Endothélium, valvulopathies et insuffisance cardiaque (EnVI), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Rouen, Normandie Université (NU), CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Université de Caen Normandie (UNICAEN), Biologie intégrative du tissu osseux, Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Centre Hospitalier Universitaire [Grenoble] (CHU), Laboratoire Traitement du Signal et de l'Image (LTSI), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), CHU Pontchaillou [Rennes], Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Pneumologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Hospices Civils de Lyon (HCL), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Facteurs de Risque et Déterminants Moléculaires des Maladies liées au Vieillissement - U 1167 (RID-AGE), Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), University of Calgary, Centre hospitalier universitaire de Nantes (CHU Nantes), Hôpital Nord Laennec [CHU Nantes], CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier Universitaire de Reims (CHU Reims), American Memorial Hospital (Hôpital des enfants) [Reims], Centre Hospitalier Universitaire de Nice (CHU Nice), Université Côte d'Azur (UCA), Hôpital Dupuytren [CHU Limoges], Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Université de Bordeaux (UB), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Hôpital Larrey [Toulouse], CHU Toulouse [Toulouse], Hôpital de la Timone [CHU - APHM] (TIMONE), Assistance Publique - Hôpitaux de Marseille (APHM), Aix Marseille Université (AMU), Nouvel Hôpital Civil de Strasbourg, Centre hospitalier universitaire de Poitiers (CHU Poitiers), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), CIC Brest, Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Hôpital de la Cavale Blanche, Centre Chirurgical Marie Lannelongue (CCML)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biologie Intégrative du Tissu Osseux (LBTO), Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne] (CHU ST-E), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), École Pratique des Hautes Études (EPHE), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre chirurgical Marie Lannelongue, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), and MORNET, Dominique
Subjects: Pulmonary and Respiratory Medicine, medicine.medical_specialty, business.industry, [SDV]Life Sciences [q-bio], Critical Care and Intensive Care Medicine, medicine.disease, survival, Pulmonary hypertension, 3. Good health, [SDV] Life Sciences [q-bio], pulmonary arterial hypertension, Internal medicine, pulmonary hypertension, Long term survival, therapeutics, Cardiology, Medicine, Initial treatment, business
Abstract: International audience; Rationale: The relationship between the initial treatment strategy and survival in pulmonary arterial hypertension (PAH) remains uncertain. Objectives: To evaluate the long-term survival of patients with PAH categorized according to the initial treatment strategy. Methods: A retrospective analysis of incident patients with idiopathic, heritable, or anorexigen-induced PAH enrolled in the French Pulmonary Hypertension Registry (January 2006 to December 2018) was conducted. Survival was assessed according to the initial strategy: monotherapy, dual therapy, or triple-combination therapy (two oral medications and a parenteral prostacyclin). Measurements and Main Results: Among 1,611 enrolled patients, 984 were initiated on monotherapy, 551 were initiated on dual therapy, and 76 were initiated on triple therapy. The triple-combination group was younger and had fewer comorbidities but had a higher mortality risk. The survival rate was higher with the use of triple therapy (91% at 5 yr) as compared with dual therapy or monotherapy (both 61% at 5 yr) (P < 0.001). Propensity score matching of age, sex, and pulmonary vascular resistance also showed significant differences between triple therapy and dual therapy (10-yr survival, 85% vs. 65%). In high-risk patients (n = 243), the survival rate was higher with triple therapy than with monotherapy or dual therapy, whereas there was no difference between monotherapy and double therapy. In intermediate-risk patients (n = 1,134), survival improved with an increasing number of therapies. In multivariable Cox regression, triple therapy was independently associated with a lower risk of death (hazard ratio, 0.29; 95% confidence interval, 0.11-0.80; P = 0.017). Among the 148 patients initiated on a parenteral prostacyclin, those on triple therapy had a higher survival rate than those on monotherapy or dual therapy. Conclusions: Initial triple-combination therapy that includes parenteral prostacyclin seems to be associated with a higher survival rate in PAH, particularly in the youngest high-risk patients.
Published: 2021

7. Unusual interventional treatment of a complex calcified coronary artery lesion in a child with Kawasaki disease: a case report

Author: Anthony Mézier, Claire Dauphin, Géraud Souteyrand, and Pascal Motreff
Subjects: Cardiology and Cardiovascular Medicine
Abstract: Background Kawasaki disease (KD) is a medium vessel vasculitis occurring in children, as yet of undetermined aetiology. KD can lead to severe complications such as coronary artery aneurysms, thrombosis, and sudden death. Monitoring of coronary anomalies is an important issue in the early phase of the disease, and their follow-up is based on different imaging methods. The interventional treatment of these coronary anomalies, which is often complex, is a therapeutic challenge. Case summary We are reporting the case of a four-year-old child who presented KD which was complicated by coronary aneurysm of the proximal left anterior descending artery and ectasia of the right coronary artery (RCA). These lesions progressively calcified and resulted at the age of 13 in chronic occlusion of the RCA. After confirmation of myocardial viability and myocardial ischaemia, a complex angioplasty guided by intracoronary imaging was performed using rotational atherectomy, a cutting balloon, and a high pressure balloon. The control coronary angiography performed 1 year later revealed two false aneurysm on the RCA at the angioplasty site, which were successfully treated with a covered stent. Discussion This case report describes the challenges of treating coronary artery abnormalities such as calcified coronary lesions in children with KD. The coronary intervention of these lesions remains complex and may lead to coronary rupture. We highlight the advantage of using intracoronary imaging in the management of these calcified lesions for successful revascularization, and to assess the complications of percutaneous coronary intervention.
Published: 2022

8. Patent foramen ovale closure in children without cardiopathy: Child-PFO study

Author: Sébastien Hascoët, Ali Houeijeh, Stéphanie Douchin, Claire Dauphin, Alban-Elouen Baruteau, Clément Karsenty, Hugues Lucron, François Godart, Zakaria Jalal, Jérôme Petit, Céline Gronier, Guiti Milani, Aurélie Chalard, Noelie Miton, Philippe Aldebert, and J.B. Thambo
Subjects: Male, Cardiac Catheterization, medicine.medical_specialty, Time Factors, Adolescent, Septal Occluder Device, medicine.drug_class, Foramen Ovale, Patent, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Risk Factors, medicine, Humans, Fluoroscopy, General anaesthesia, 030212 general & internal medicine, Retrospective Studies, Aspirin, medicine.diagnostic_test, business.industry, Anticoagulant, Age Factors, Retrospective cohort study, General Medicine, medicine.disease, Surgery, Stroke, Shunting, Treatment Outcome, Ischemic Attack, Transient, Patent foramen ovale, Female, France, Cardiology and Cardiovascular Medicine, business, Complication, medicine.drug
Abstract: Summary Background Closure of patent foramen ovale is well-managed in adults, but is performed less frequently in children. Aim To analyse all patent foramen ovale closures performed in the past 20 years in French paediatric centres. Methods Retrospective study of patent foramen ovale closures in children without cardiopathy in nine centres between 2000 and 2019. Results Forty-one procedures were carried out in children (median age: 14.9 years). Thirty-one patent foramen ovales were closed after a transient ischaemic attack or stroke, six for a left-to-right shunt and four for other reasons. Transthoracic echocardiography was used for 72.2% of the diagnoses and transoesophageal echocardiography for 27.8%. A substantial degree of shunting was found in 42.9% of patients and an atrial septal aneurysm in 56.2%. General anaesthesia with transoesophageal echocardiography guidance was performed in 68.3% of the procedures; local anaesthesia and transthoracic echocardiography or intracardiac echocardiography was performed in 31.7%. The success rate was 100%. The median fluoroscopy time was 4.14 minutes: 3.55 minutes with transoesophageal echocardiography; and 4.38 minutes with transthoracic echocardiography (P = 0.67). There was only one periprocedural complication (2.4%). Postoperatively, 80,5% of patients were treated with aspirin and 12,2% with an anticoagulant. The rate of complete occlusion was 56.8% immediately after the procedure, 68.6% at 1 year and 92.3% at the last follow-up. There were no delayed complications or cases of recurrent stroke during follow-up (median follow-up: 568 days). Conclusion Closure of patent foramen ovale in children appears to be safe and effective, as we noted a low rate of immediate complications, no delayed complications and no stroke recurrence in this indication.
Published: 2020

9. Author response for 'Novel CDK10 variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor'

Author: Amale Achaiaa, Jean Marc Garcier, Claude Darcha, Denis Gallot, Patrick Nitschke, Tania Attié-Bitach, Cécile Fourrage, Fanny Laffargue, Carole Goumy, Lucile Boutaud, and Claire Dauphin
Subjects: business.industry, Multicystic dysplastic kidney, medicine, Solitary median maxillary central incisor, Anatomy, medicine.disease, business
Published: 2021

10. Percutaneous closure of patent ductus arteriosus in premature infants: A French national survey

Author: Damien Bonnet, Claire Dauphin, Younes Boudjemline, Hélène Bouvaist, Sophie Malekzadeh-Milani, Pierre Mauran, Stéphanie Douchin, Aurélie Chalard, Ahmad Akhavi, Paediatric Department, CHU Grenoble, Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris Descartes - Paris 5 (UPD5), Service de médecine interne, hôpital Gabriel-Montpied, and CHU Clermont-Ferrand
Subjects: Cardiac Catheterization, medicine.medical_specialty, Time Factors, Percutaneous, [SDV]Life Sciences [q-bio], Gestational Age, 030204 cardiovascular system & hematology, Radiography, Interventional, Balloon dilatation, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Ductus arteriosus, medicine, Birth Weight, Humans, Infant, Very Low Birth Weight, Radiology, Nuclear Medicine and imaging, Complication rate, 030212 general & internal medicine, Ductus Arteriosus, Patent, ComputingMilieux_MISCELLANEOUS, Retrospective Studies, business.industry, Hemodynamics, Infant, Newborn, Infant, Large series, General Medicine, 3. Good health, Surgery, Low birth weight, Treatment Outcome, medicine.anatomical_structure, Fluoroscopy, Health Care Surveys, Infant, Extremely Premature, France, Tricuspid Valve Regurgitation, medicine.symptom, Cardiology and Cardiovascular Medicine, business
Abstract: Transcatheter closure of patent ductus arteriosus (PDA) in premature infants has been shown to be feasible in small series. Outcomes in larger series are currently lacking.All premature infants ( 36 weeks GA) who underwent transcatheter PDA closure were included in a multicenter French national survey. Demographic data (gestational age [GA], birth weight [BW]) and procedural data (weight [PW], age at procedure [AP], procedural success, fluoroscopy time, and type of device) were collected. Outcomes and procedural complications were reviewed.Between September 2013 and June 2017, 102 patients were included. In 71 cases, PDA pharmacological closure had been attempted. Mean GA was 27 ± 2.9 weeks. Mean BW and PW were 1,040 ± 715 g and 1,543 ± 698 g, respectively. Mean AP was 39 ± 26 days. Number of premature infants1 kg, between 1 and 2 kg, and 2 kg was 21, 59, and 22, respectively. Mean fluoroscopic time was 6.5 min. Success rate was 99%. Device- or procedure-related complications were reported in nine patients (8.9%) including three LPA stenoses (requiring surgery in two and balloon dilatation in one), two neo-coarctations (one requiring subsequent surgery), and three instances of tricuspid valve regurgitation at follow-up. Seven deaths were reported, none being related to the procedure. Mean follow-up was 39.75 ± 13.1 months.In this large series of premature infants undergoing transcatheter PDA closure, it was demonstrated that this procedure can be performed successfully in the vast majority of patients with an acceptable complication rate. Future efforts should focus on minimizing complications, particularly device-related vascular stenoses.
Published: 2019

11. Cardiovascular outcome in adult-onset Kawasaki disease

Author: Elise Peter, Baptiste Hervier, Emmanuelle Weber, Pascal Cathébras, Hubert de Boysson, Sébastien Humbert, L. Varron, Olivier Fain, Mathieu Gerfaud-Valentin, J.B. Fraison, Pascal Sève, Yvan Jamilloux, Grégory Pugnet, Pascal Roblot, D. Gobert, Claire Dauphin, Cédric Landron, Claude Bachmeyer, Brahim Harbaoui, Isabelle Koné Paut, Emeline Gomard-Mennesson, and Jeremy Keraen
Subjects: Adult, Pediatrics, medicine.medical_specialty, business.industry, Immunology, MEDLINE, Immunoglobulins, Intravenous, Infant, Mucocutaneous Lymph Node Syndrome, medicine.disease, Outcome (game theory), Cardiovascular System, medicine, Immunology and Allergy, Humans, Kawasaki disease, business
Published: 2021

12. Efficacy, safety, and characteristics of the utilization of the Amplatzer Vascular Plug (AVP) II and IV for various percutaneous occlusions in children under 10 years

Author: Caroline Ovaert, F. Bourlon, Patrice Guerin, Alban-Elouen Baruteau, Mélanie Brard, Saskia Tuttle, F. Godart, Hugues Lucron, Maha Tagorti, Claire Dauphin, Rishika Banydeen, and Ali Houeijeh
Subjects: medicine.medical_specialty, Percutaneous, medicine.anatomical_structure, business.industry, Ductus arteriosus, Occlusion, medicine, Vascular plug, Observational study, Cardiology and Cardiovascular Medicine, business, Surgery
Abstract: Background Even though several devices have been developed to facilitate occlusion of cardio vascular structures in adults, only a few types of plugs have been approved in selected pediatric indications. However, apart from patent ductus arteriosus (PDA) closure, little data has been published in children, particularly with regard to the heterogeneity of the procedures and outcomes. Aim To describe the efficacy, safety, and characteristics of the utilization of the Amplatzer Vascular Plug (AVP) II and IV for cardiovascular percutaneous occlusions in children under 10 years. Methods Retrospective multicenter (2006–2020, 6 academic centers) observational review of pediatric transcatheter occlusions using AVP II or IV. Results A total of 125 consecutive children (60 Conclusions AVP II and IV are safe and effective for the percutaneous treatment of numerous cardiovascular lesions in children under ten. In our multicenter experience, such devices represent a real “off-label” pediatric alternative in well-selected patients.
Published: 2021

13. Endovascular treatment for native coarctation in children in France. A multicentric, retrospective long-term analysis

Author: Sophie Malekzadeh-Milani, Hélène Bouvaist, Damien Bonnet, Fedoua El Louali, Sébastien Hascoët, Ali Houjejeh, Jean-Benoit Thambo, Stéphanie Douchin, Philippe Aldebert, Zakaria Jalal, Mélanie Bard, François Godart, Clément Karsenty, Claire Dauphin, Alban Baruteau, Caroline Ovaert, and Hugues Lucron
Subjects: education.field_of_study, medicine.medical_specialty, Percutaneous, business.industry, medicine.medical_treatment, Gold standard, Population, Stent, medicine.disease, Balloon, Surgery, Aortic valvuloplasty, Stenosis, Occlusion, medicine, Cardiology and Cardiovascular Medicine, education, business
Abstract: Background Percutaneous treatment of native coarctation (coA), gold standard in adult patients, is still debated in children. We aim to report the French multicentre experience. Methods All patients aged 1 to 18 yrs with native coA, treated percutaneously between 01/2000 and 12/2018, were included in this multcentric (9 centres) retrospective survey. Results One hundred and thirty three children (34 female) were included. Indication for treatment was hypertension in 109, exercise hypertension in 8 and other reasons in 16 patients. Mean age at intervention was 11.5 ± 3.9 years, mean weight 41 ± 18 kg. Procedure consisted of isolated balloon dilatation in 5 (mean age 2,63 yrs, mean weight 12 kg), balloon dilatation followed by stent implantation in 8 (mean age 11 yrs, mean weight 37 kg), and immediate stent implantation in 120 (mean age 12 yrs, mean weight 43 kg). Stents used (n = 124/128) were covered in 43, non-covered in 77, including 38 open cell stents. Invasive gradient across coA dropped from 28 mmHg (range 5 to 64) at baseline (n = 124) to 3 mmHg (range -5 to 20) after intervention (n = 105). Three associated lesions were treated: 1 PDA closure, 1 aortic valvuloplasty and 1 left SVC occlusion. Serious vascular complications occurred in 8 patients (6%) (3 pseudo-aneurysms, 2 dissections, 2 stenosis and 1 occlusion) requiring surgery in 2. Reintervention was performed in 22%: 2 patients had surgery, 28 were treated percutaneously (14 balloon dilatations, 14 stent implantations). Mean follow-up reached 4.9 ± 4.7 years. At latest follow-up, 25% remained hypertensive with 15 patients (11%) on anti-hypertensive medication. MRI, CTscan or fluoroscopy imaging, are available in 52 patients during follow-up (39%). Rate of aneurysm formation, stent fracture and risks factors for reintervention or residual hypertension will be presented. Conclusions Percutaneous treatment of native coarctation was safe and efficient in our french population. Close follow-up is required for longer-term results.
Published: 2021

14. Souffle cardiaque isolé

Author: Claire Dauphin, Noëlie Miton, and Aurélie Chalard
Published: 2021

15. Les auteurs

Author: Pr Roland Henaine, Pr Jean-Benoît Thambo, Dr Sarah Abdellaoui, Pr Philippe Acar, Dr Pascal Amedro, Dr Rihab Arbi, Dr Fanny Bajolle, Dr Mohamed Bakloul, Dr Alban-Elouen Baruteau, Dr Adeline Basquin, Dr Rania Bassil, Dr Claire Bertail-Galoin, Dr Laurent Bonnemains, Dr Benjamin Bouyer, Dr Mélanie Brard, Dr Patricia Bretones, Dr Philippe Brosset, Dr Cristian Bulescu, Dr Aurélie Chalard, Pr Ghassan Chehab, Dr Nicolas Combes, Dr Fabio Cuttone, Dr Linda Daou, Dr Claire Dauphin, Dr Nicolas Derval, Dr Capucine Didier, Dr Marie-Lou Dinet, Dr Corinne Ducreux, Dr Emmanuelle Fournier, Dr Arthur Gavotto, Pr Francois Godart, Dr Khaled Hadeed, Pr Jérôme Harambat, Pr Anna-Maria Henaine, Pr Lucile Houyel, Dr Zakaria Jalal, Dr Hervé Joly, Dr Clément Karsenty, Dr Julie Lamy, Pr Bertrand Leobon, Dr Marilyne Lévy, Dr Hugues Lucron, Dr Alice Maltret, Dr Mona Massoud, Dr Mathilde Méot, Dr Noélie Miton, Pr Patrice Morville, Dr Karine Nubret, Pr Caroline Ovaert, Dr Nicolas Pangaud, Dr Élodie Perdreau, Dr Thomas Perouse de Montclos, Pr Christine Pietremont, Dr Bénédicte Romefort, Pr Caroline Rooryck-Thambo, Pr Francois Roubertie, Pr Zakhia Saliba, Dr Élie Sawan, Pr Jean-Marc Schleich, Dr Pierre-Emmanuel Séguéla, Dr Émilie Testet, Dr Olivia Vasile, Dr Maëlys Venet, Dr Magali Veyrier, and Dr Camille Walton
Published: 2021

16. Atrésie pulmonaire à septum ouvert

Author: Noëlie Miton, Aurélie Chalard, Claire Dauphin, Cristian Bulescu, and Roland Henaine
Published: 2021

17. Exposure to low-dose ionizing radiation from cardiac catheterization and risk of cancer: the COCCINELLE study

Author: Sophie Malekzadeh-Milani, Jean-Benoit Thambo, Marie-Odile Bernier, S. Dreuil, Clément Karsenty, François Godart, Estelle Rage, Caroline Ovaert, Sylvie Di Filippo, Kossi Abalo, Claire Dauphin, Jean-François Piéchaud, Klervi Leuraud, Patrice Guerin, Sébastien Hascoët, Stéphanie Douchin, Sarah S. Cohen, Tiphaine Feuillet, Damien Bonnet, Pauline Helms, Pierre Mauran, Bruno Lefort, PSE-SANTE/SESANE/LEPID, Institut de Radioprotection et de Sûreté Nucléaire (IRSN), 2.M3C-Necker, Hôpital universitaire Necker-Enfants malades, Université de Paris, Paris, France, 3.Cardiology department, Hôpital Marie Lannelongue, Le Plessis Robinson, France, PSE-SANTE/SER/UEM, Cardiology department, Hôpital Marie Lannelongue, Le Plessis Robinson, France, Service de Cardiologie Maladies Vasculaires [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Paediatric and Congential Cardiology Department, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1, Lyon, France., Cardiopédiatrie, hôpital couple enfant, CHU Grenoble Alpes, 38043 Grenoble cedex 9, France, Service de Cardiologie Infantile et Congénitale, Institut Cœur Poumon, 59037 Lille Cedex France, CHU Nantes, INSERM, Nantes Université, Clinique Cardiologique et des Maladies Vasculaires, CIC 1413, Institut du Thorax, Nantes, France., Unit of Cardiopediatrics, University Hospital of Strasbourg, Strasbourg, France, Institut des Cardiopathies Congénitales, CHRU Tours, 49 boulevard Béranger, 37000 Tours, France, Unité de cardiologie pédiatrique et congénitale, American Memorial Hospital, CHU de Reims, 47 rue Cognacq-Jay, 51092 Reims Cedex, France, Cardiologie pédiatrique et congénitale, Timone enfants, AP-HM et INSERM 1251, Aix-Marseille Université, Marseille France, Institut Hospitalier Jacques-Cartier, 91300 Massy, France, Department of Pediatric and Adult Congenital Cardiology, Bordeaux University Hospital (CHU), 33600 Pessac, France, M3C-Necker, Hôpital universitaire Necker-Enfants malades, Université de Paris, Paris, France, Laboratoire d épidémiologie des rayonnements ionisants (IRSN/PSE-SANTE/SESANE/LEPID), Service de recherche sur les effets biologiques et Sanitaires des rayonnements ionisants (IRSN/PSE-SANTE/SESANE), Institut de Radioprotection et de Sûreté Nucléaire (IRSN)-Institut de Radioprotection et de Sûreté Nucléaire (IRSN), Unité d'expertise en radioprotection médicale (IRSN/PSE-SANTE/SER/UEM), Service d'études et d'expertise en radioprotection (IRSN/PSE-SANTE/SER), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Hôpital Femme Mère Enfant [CHU - HCL] (HFME), and Hospices Civils de Lyon (HCL)
Subjects: medicine.medical_specialty, education.field_of_study, Childhood Cancer Registry, business.industry, medicine.medical_treatment, Incidence (epidemiology), [SDV]Life Sciences [q-bio], Population, Cancer, Immunosuppression, medicine.disease, Confidence interval, 030218 nuclear medicine & medical imaging, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 030220 oncology & carcinogenesis, Internal medicine, Cohort, medicine, Cardiology and Cardiovascular Medicine, business, education, Cardiac catheterization
Abstract: International audience; Background The COCCINELLE study is a nationwide retrospective French cohort set up to evaluate the risk of radiation associated cancer in patients who undergone cardiac catheterization (CC) procedures for diagnosis or treatment of congenital heart disease during childhood [1].Material and methods Children who undergone CC procedures from 01/01/2000 to 31/12/2013 before the age of 16 in one of the 15 pediatric cardiology departments which perform pediatric CC in mainland France were included. The follow-up started at the date of the first recorded CC procedure until the exit date, i.e. the date of death, the date of first cancer diagnosis, the date of the 18th birthday, or the 31/12/2015, whichever occurred first. The cohort was linked to the National Childhood Cancer Registry to identify patients diagnosed with cancer and with the French National Directory for the Identification of Natural Persons to retrieve the patients’ vital status. An external comparison was conducted using standardized incidence ratios (SIR). Breslow and Day’s approximation was used to estimate 95% confidence intervals (CI) for the SIRs [2]. Results A total of 17,104 children were included in the cohort and followed for 110,335 person-years, with 22,227 CC procedures collected. Among the patients, 81.6 % received only one procedure. Fifty-nine cancer cases were observed in the cohort. SIRs were increased for all-cancer (SIR = 3.8, 95% CI 2.9, 4.9), leukemia (SIR = 3.3, 95% CI 2.0, 5.4), lymphoma (SIR = 14.9, 95% CI 9.9, 22.5) and solid cancers excluding central nervous system tumors (SIR = 3.3, 95% CI 2.0, 5.5) compared with the general population. Conclusion Increased risks of cancer were observed. Potential explanations include shared genetic or environmental factors, immunosuppression drugs, and exposure to medical ionizing radiation procedures. The dose-response analysis between ionizing radiation doses received during CCs and cancer occurrence will allow to address this question.Keywords: Ionizing radiation, cardiac catheterization, congenital heart disease, cancerCompeting interestsThe authors declare that they have no competing of interest.References1.Baysson H, Nkoumazok B, Barnaoui S, Réhel J, Girodon B, Milani G, Boudjemline Y, Bonnet D, Laurier D, Bernier M (2015) Follow-up of children exposed to ionising radiation from cardiac catheterisation: the Coccinelle study. Radiation protection dosimetry 165:13–162.Breslow NE, Day NE (1987) Statistical Methods in Cancer Research Volume II: The Design and Analysis of Cohort Studies, IARC Scientific Publication. IARC Scientific Publication No. 82, Lyon, France: International Agency for Research on Cancer.NotesCOCCINELLE: French acronym for COhorte sur le risque de Cancer après Cardiologie INterventionnELLECC: Cardiac CatheterizationSIR: Standardized Incidence Ratios CI: Confidence IntervalsCNS: Central Nervous System
Published: 2021

18. Novel <scp> CDK10 </scp> variants with multicystic dysplastic kidney, left ventricular non‐compaction, and a solitary median maxillary central incisor

Author: Tania Attié-Bitach, Claude Darcha, Claire Dauphin, Patrick Nitschké, Denis Gallot, Jean Marc Garcier, Cécile Fourrage, Fanny Laffargue, Amale Achaiaa, Lucile Boutaud, Carole Goumy, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA)
Subjects: 0303 health sciences, business.industry, [SDV]Life Sciences [q-bio], 030305 genetics & heredity, Multicystic dysplastic kidney, Solitary median maxillary central incisor, Anatomy, medicine.disease, 03 medical and health sciences, Genetics, medicine, business, ComputingMilieux_MISCELLANEOUS, Genetics (clinical), 030304 developmental biology
Abstract: International audience
Published: 2021

19. Devenir cardiovasculaire à long terme dans la maladie de Kawasaki de l’adulte

Author: Pascal Sève, Pascal Cathébras, Grégory Pugnet, Baptiste Hervier, Emeline Gomard-Mennesson, I Kone-Paut, Claire Dauphin, Sébastien Humbert, C. Bachmeyer, M. Gerfaud-Valentin, L. Varron, F. Jean-Baptiste, Pascal Roblot, H. De Boysson, D. Gobert, Olivier Fain, B. Harbaoui, E. Peter, E. Weber, and Y. Jamilloux
Subjects: Gastroenterology, Internal Medicine
Abstract: Introduction La maladie de Kawasaki de l’adulte (MKA) est une forme rare de vascularite dont la gravite est liee a l’atteinte coronaire. Nous decrivons dans cette etude les consequences cardio-vasculaires a long terme de la MKA. Patients et methodes Les donnees de suivi cardio-vasculaires des patients de l’Observatoire Francais de la MKA ont ete collectees retrospectivement. Resultats 26 patients ont ete inclus avec un âge median au diagnostic de 30 ans. Au diagnostic, 8 patients presentaient des symptomes cardio-vasculaires : douleur thoracique (5/8), insuffisance cardiaque droite (3/8) ou gauche (2/8) et 5 patients avaient une elevation de la troponine sanguine. Douze patients avaient une atteinte cardiovasculaire au diagnostic : 8 pericardites, 6 arterites coronaires stenosantes, 5 myocardites, 3 anevrysmes coronariens. Treize patients presentaient au moins un facteur de risque cardio-vasculaire, le plus frequent etant le tabagisme (12/13). Dix-sept patients ont recus des immunoglobulines intraveineuses au diagnostic et 19 un traitement anti-inflammatoire. La duree mediane de suivi etait de 60 mois (10 a 192). Deux patients ont presente un evenement cardiovasculaire relie a la MKA durant le suivi : deux infarctus du myocarde, survenus respectivement chez un patient non traite au diagnostic et un patient avec sequelles coronaires connues de sa MKA. Aucun deces n’est survenu. La derniere echocardiographie de suivi (disponible pour 23 patients) retrouvait une fraction d’ejection ventriculaire gauche normale. Un seul des 4 patients ayant beneficie de test fonctionnel de depistage de l’ischemie myocardique a presente un resultat anormal. Deux patients ont beneficie d’une coronarographie durant le suivi dont une seule etait anormale. Neuf patients beneficient encore d’un traitement par antiagregant plaquettaire. Conclusion Cette etude apporte les premieres donnees de suivi cardiovasculaires dans la MKA. Un diagnostic et un traitement precoces semblent importants pour prevenir les complications a long terme, de meme qu’un depistage et une prise en charge systematique des facteurs de risque cardio-vasculaires.
Published: 2021

20. Jet Lag Recovery and Memory Functions Are Correlated with Direct Light Effects on Locomotion

Author: Amy-Claire Dauphin, Samuel Parkins, Melissa E S Richardson, and Isabelle Kaneza
Subjects: Light therapy, Jet Lag Syndrome, Male, medicine.medical_specialty, Physiology, medicine.medical_treatment, Lag, Photoperiod, Male mice, Audiology, Memory performance, Positive correlation, Light effect, Circadian Rhythm, Mice, Inbred C57BL, Mice, Memory, Physiology (medical), medicine, Memory functions, Animals, Entrainment (chronobiology), Locomotion, Mathematics
Abstract: Jet lag is a circadian disruption that affects millions of people, resulting, among other things, in extreme sleepiness and memory loss. The hazardous implications of such effects are evident in situations in which focus and attention are required. Remarkably, there is a limited understanding of how jet lag recovery and associated memory loss vary year round under different photoperiods. Here we show, using different cycles representing winter, summer, and equinox in male mice, that jet lag recovery and memory vary significantly with photoperiod changes. We uncover a positive correlation of acute light effects on circadian-driven locomotion (known as negative masking) with photoentrainment speed and memory enhancement during jet lag. Specifically, we show that enhancing or reducing negative masking is correlated with better or worse memory performance, respectively. This study indicates that in addition to timed-light exposure for phase shifting, the negative masking response could also be biologically relevant when designing effective treatments of jet lag.
Published: 2020

21. Phenotype and Outcomes of Pulmonary Hypertension Associated with Neurofibromatosis Type 1

Author: Pamela Moceri, Maria-Rosa Ghigna, Olivier Sitbon, Céline Chabanne, Marc Humbert, Pascal de Groote, Pierre Wolkenstein, Julie Traclet, Xavier Mignard, Emmanuel Bergot, François Goupil, Delphine Bourlier, Xavier Jaïs, Etienne-Marie Jutant, David Montani, Frédéric Perros, Laurent Bertoletti, Jean-Pierre Gueffet, Gérald Simonneau, Thibaud Soumagne, Nicolas Favrolt, Grégoire Prévot, Cécile Tromeur, Pierre-Yves Brillet, Barbara Girerd, Mitja Jevnikar, Fabrice Bauer, Ari Chaouat, Pascal Magro, Raphael Borie, Elie Fadel, Laurent Savale, and Claire Dauphin
Subjects: Pulmonary and Respiratory Medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Lung Neoplasms, Neurofibromatosis 1, Adolescent, Hypertension, Pulmonary, Critical Care and Intensive Care Medicine, Gastroenterology, Young Adult, Internal medicine, medicine, Humans, Neurofibromatosis, neoplasms, Neurofibromin 1, business.industry, Interstitial lung disease, Middle Aged, medicine.disease, Prognosis, Phenotype, Pulmonary hypertension, eye diseases, nervous system diseases, Female, France, business, Complication, Lung Transplantation
Abstract: Rationale: Pulmonary hypertension (PH) associated with neurofibromatosis type 1 (NF1) is a rare and largely unknown complication of NF1.Objectives: To describe characteristics and outcomes of PH-NF...
Published: 2020

22. Phenotype and outcome of pulmonary arterial hypertension patients carrying a TBX4 mutation

Author: Caroline Ovaert, Damien Bonnet, Gérald Simonneau, Céline Chabanne, Pierre Thoré, Olivier Sitbon, Marc Humbert, Marilyne Lévy, Claire Dauphin, Florent Soubrier, Laurent Savale, E. Boiffard, Xavier Jaïs, Martine Remy-Jardin, Amélie Servettaz, Barbara Girerd, Anne Guillaumot, Ari Chaouat, Frédéric Perros, Maria-Rosa Ghigna, David Montani, Vincent Cottin, Mélanie Eyries, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Service de Pneumologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Université Paris-Saclay, Centre Chirurgical Marie Lannelongue (CCML), Centre chirurgical Marie Lannelongue, Service d'Oncogénétique et Angiogénétique Moléculaire [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Service de génétique [CHU Pitié-Salpêtrière], Service de cardiologie pédiatrique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Clermont-Ferrand, CHU Pontchaillou [Rennes], Centre Hospitalier Départemental - Hôpital de La Roche-sur-Yon, Service de pneumologie [Centre Hospitalier Lyon Sud - HCL], Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre de Référence des Maladies Pulmonaires Rares [Hôpital Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Immuno-Régulation dans les Maladies Auto-Immunes Inflammatoires et le Cancer - EA 7509 (IRMAIC), Université de Reims Champagne-Ardenne (URCA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)
Subjects: 0301 basic medicine, Pulmonary and Respiratory Medicine, medicine.medical_specialty, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Hemodynamics, medicine.disease_cause, Gastroenterology, Vascular remodelling in the embryo, 03 medical and health sciences, 0302 clinical medicine, Diffusing capacity, Internal medicine, Parenchyma, medicine, Lung transplantation, Mutation, business.industry, Phenotype, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, 030228 respiratory system, Vascular resistance, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: IntroductionTBX4 mutation causes small patella syndrome (SPS) and/or pulmonary arterial hypertension (PAH). The characteristics and outcomes of PAH associated with TBX4 mutations are largely unknown.MethodsWe report the clinical, functional, radiologic, histologic and haemodynamic characteristics and outcomes of heritable PAH patients carrying a TBX4 mutation from the French pulmonary hypertension (PH) network.Results20 patients were identified in 17 families. They were characterised by a median age at diagnosis of 29 years (0–76 years) and a female to male ratio of three. Most of the patients (70%) were in New York Heart Association (NYHA) functional class III or IV with a severe haemodynamic impairment (median pulmonary vascular resistance (PVR) of 13.6 (6.2–41.8) Wood units). Skeletal signs of SPS were present in 80% of cases. Half of the patients had mild restrictive or obstructive limitation and diffusing capacity of the lung for carbon monoxide (DLCO) was decreased in all patients. High-resolution computed tomography (HRCT) showed bronchial abnormalities, peri-bronchial cysts, mosaic distribution and mediastinal lymphadenopathies. PAH therapy was associated with significant clinical improvement. At follow-up (median 76 months), two patients had died and two had undergone lung transplantation. One-year, three-year and five-year event-free survival rates were 100%, 94% and 83%, respectively. Histologic examination of explanted lungs revealed alveolar growth abnormalities, major pulmonary vascular remodelling similar to that observed in idiopathic pulmonary arterial hypertension (IPAH) and accumulation of cholesterol crystals within the lung parenchyma.ConclusionPAH due to TBX4 mutations may occur with or without skeletal abnormalities across a broad age range from birth to late adulthood. PAH is usually severe and associated with bronchial and parenchymal abnormalities.
Published: 2020

23. Phenotype and outcome of PAH patients carrying a TBX4 mutation

Author: Pierre Thoré, Barbara Girerd, Xavier Jaïs, Laurent Savale, Maria Rosa Ghigna, Mélanie Eyries, Marilyne Levy, Caroline Ovaert, Amélie Servettaz, Anne Guillaumot, Claire Dauphin, Céline Chabanne, Emmanuel Boiffard, Vincent Cottin, Frédéric Perros, Gérald Simonneau, Sitbon Olivier, Florent Soubrier, Damien Bonnet, Martine Remy Jardin, Ari Chaouat, Marc Humbert, David Montani, Service de Pneumologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Hypertension artérielle pulmonaire : physiopathologie et innovation thérapeutique [Le Kremlin-Bicêtre], Institut National de la Santé et de la Recherche Médicale (INSERM), Faculté de Médecine Paris-Saclay, AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)-Université Paris-Saclay, Marie Lannelongue Hospital, 92350 Le Plessis-Robinson, France, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de Médecine Interne, Immunologie clinique et maladies infectieuses [CHU Reims], Université de Reims Champagne-Ardenne (URCA)-Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Service de chirurgie thoracique cardiaque et vasculaire [Rennes] = Thoracic and Cardiovascular Surgery [Rennes], CHU Pontchaillou [Rennes], Service de Cardiologie [La Roche-sur-Yon], Centre Hospitalier Départemental site de la Roche-sur-Yon (CHD de la Roche-sur-Yon), Department of Pneumology [Lyon], Hospices Civils de Lyon (HCL), Hypertension pulmonaire : physiopathologie et innovation thérapeutique (HPPIT), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay, Service de pneumologie [Béclère], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP - Hôpital Antoine Béclère [Clamart], Centre Chirurgical Marie Lannelongue (CCML), Centre chirurgical Marie Lannelongue, Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Hôpital Albert Calmette, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service des Maladies Infectieuses et Tropicales [CHRU Nancy], Perros, Frédéric, Hypertension arterielle pulmonaire physiopathologie et innovation thérapeutique, Centre Chirurgical Marie Lannelongue (CCML)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Marie-Lannelongue, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), CHU Gabriel Montpied (CHU), Service de chirurgie thoracique cardiaque et vasculaire [Rennes], Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], and AP-HP - Hôpital Antoine Béclère [Clamart]
Subjects: [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, 3. Good health, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system
Abstract: International audience; INTRODUCTION:TBX4 mutation cause small patella syndrome (SPS) and/or pulmonary arterial hypertension (PAH). The characteristics and outcomes of PAH associated with TBX4 mutations are largely unknown.METHODS:We report the clinical, functional, radiologic, histologic and haemodynamic characteristics and outcomes of heritable PAH patients carrying a TBX4 mutation from the French PH Network.RESULTS:Twenty patients were identified in 17 families. They were characterised by a median age at diagnosis of 29 (0-76) year-old and a female to male ratio of 3. Most of the patients were in NYHA functional class III or IV (70%) with a severe hemodynamic impairment (median pulmonary vascular resistance of 13.6 [6.2-41.8] Wood Units). Skeletal signs of SPS were present in 80% of cases. Half of the patients had mild restrictive or obstructive limitation and diffusing capacity for carbon monoxide was decreased in all patients. High-resolution computed tomography showed bronchial abnormalities, peri-bronchial cysts, mosaic distribution and mediastinal lymphadenopathies. PAH therapy was associated with significant clinical improvement. At follow-up (median 76 months), two patients died and two underwent lung transplantation. One-, three- and five-year event-free survival rates were 100%, 94% and 83%, respectively. Histologic examination of explanted lungs revealed alveolar growth abnormalities, major pulmonary vascular remodelling similar to that observed in idiopathic PAH, and accumulation of cholesterol crystals within the lung parenchyma.CONCLUSION:PAH due to TBX4 mutations may occur with or without skeletal abnormalities across a broad age range from birth to late adulthood. PAH is usually severe and associated with bronchial and parenchymal abnormalities.
Published: 2020

24. Richardson_Supplemental_Figure_June_2020_Revised – Supplemental material for Jet Lag Recovery and Memory Functions Are Correlated with Direct Light Effects on Locomotion

Author: Richardson, Melissa E. S., Parkins, Samuel, Kaneza, Isabelle, and Amy-Claire Dauphin
Subjects: FOS: Clinical medicine, FOS: Biological sciences, 110306 Endocrinology, 69999 Biological Sciences not elsewhere classified, Neuroscience
Abstract: Supplemental material, Richardson_Supplemental_Figure_June_2020_Revised for Jet Lag Recovery and Memory Functions Are Correlated with Direct Light Effects on Locomotion by Melissa E. S. Richardson, Samuel Parkins, Isabelle Kaneza and Amy-Claire Dauphin in Journal of Biological Rhythms
Published: 2020
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25. Phenotype and outcome of pulmonary arterial hypertension patients carrying a

Author: Pierre, Thoré, Barbara, Girerd, Xavier, Jaïs, Laurent, Savale, Maria-Rosa, Ghigna, Mélanie, Eyries, Marilyne, Levy, Caroline, Ovaert, Amélie, Servettaz, Anne, Guillaumot, Claire, Dauphin, Céline, Chabanne, Emmanuel, Boiffard, Vincent, Cottin, Frédéric, Perros, Gérald, Simonneau, Olivier, Sitbon, Florent, Soubrier, Damien, Bonnet, Martine, Remy-Jardin, Ari, Chaouat, Marc, Humbert, and David, Montani
Subjects: Adult, Male, Bone Diseases, Developmental, Pulmonary Arterial Hypertension, Hip, Adolescent, Infant, Newborn, Infant, Patella, Middle Aged, Survival Rate, Young Adult, Phenotype, Ischium, Child, Preschool, Mutation, Humans, Female, Vascular Resistance, France, Child, T-Box Domain Proteins, Aged, Lung Transplantation, Retrospective Studies
Abstract: We report the clinical, functional, radiologic, histologic and haemodynamic characteristics and outcomes of heritable PAH patients carrying a20 patients were identified in 17 families. They were characterised by a median age at diagnosis of 29 years (0-76 years) and a female to male ratio of three. Most of the patients (70%) were in New York Heart Association (NYHA) functional class III or IV with a severe haemodynamic impairment (median pulmonary vascular resistance (PVR) of 13.6 (6.2-41.8) Wood units). Skeletal signs of SPS were present in 80% of cases. Half of the patients had mild restrictive or obstructive limitation and diffusing capacity of the lung for carbon monoxide (PAH due to
Published: 2019

26. Multimodality imaging guidance for percutaneous paravalvular leak closure: Insights from the multi-centre FFPP register

Author: Frederic Collet, Agathe Potier, Julien Ternacle, Martin Kloeckner, Eric Brochet, V. Ciobotaru, Clément Karsenty, Adel Aminian, Hélène Bouvaist, Guillaume Leurent, Mohammed Nejjari, Rémy Pillière, Khaled Hadeed, Fabrice Bauer, Yoan Lavie-Badie, Julien Guihaire, Christian Spaulding, Grzegorz Smolka, Claire Dauphin, Didier Champagnac, Sébastien Armero, Guillaume Bonnet, Marc-Antoine Isorni, Sébastien Hascoët, Najib Hammoudi, Benoit Gerardin, Lionel Mangin, and Francois Bagate
Subjects: Male, Cardiac Catheterization, medicine.medical_specialty, Percutaneous, Computed Tomography Angiography, medicine.medical_treatment, Aortic Valve Insufficiency, Echocardiography, Three-Dimensional, 030204 cardiovascular system & hematology, Radiography, Interventional, Multimodal Imaging, 03 medical and health sciences, 0302 clinical medicine, Valve replacement, Predictive Value of Tests, Cardiac magnetic resonance imaging, Image Interpretation, Computer-Assisted, medicine, Humans, Fluoroscopy, Prospective Studies, 030212 general & internal medicine, Paravalvular leak, Multi centre, Ultrasonography, Interventional, Aged, Retrospective Studies, Aged, 80 and over, Heart Valve Prosthesis Implantation, medicine.diagnostic_test, business.industry, Mitral Valve Insufficiency, General Medicine, Middle Aged, Magnetic Resonance Imaging, Echocardiography, Doppler, Color, Europe, Treatment Outcome, Aortic Valve, Printing, Three-Dimensional, Angiography, Mitral Valve, Female, Radiology, Cardiology and Cardiovascular Medicine, business, Echocardiography, Transesophageal, 3d echocardiography
Abstract: Summary Background Percutaneous paravalvular leak (PVL) closure has emerged as a palliative alternative to surgical management in selected high-risk patients. Percutaneous procedures are challenging, especially for mitral PVL. Accurate imaging of the morphologies of the defects is mandatory, together with precise guidance in the catheterization laboratory to enhance success rates. Aims To describe imaging modalities used in clinical practice to guide percutaneous PVL closure and assess the potential of new imaging tools. Methods Data from the ‘Fermeture de Fuite paraprothetique’ (FFPP) register were used. The FFPP register is an international multi-institutional collaborative register started in 2017 with a retrospective and a prospective part. A descriptive analysis of multimodality imaging used to guide PVL closure in clinical practice was performed. Results Data from 173 procedures performed in 19 centres from three countries (France, Belgium and Poland) were collected, which included eight cases of PVL following transcatheter valve replacement. Transoesophageal echocardiography was used in 167 cases (96.5%) and 3D echocardiography in 87.4% of cases. In one case, 3D-echocardiography was fused with fluoroscopy images in real time using echonavigator software. Details about multimodality imaging were available from a sample of 31 patients. Cardiac computed tomography (CT) was performed before 10 of the procedures. In one case, fusion between preprocedural cardiac CT angiography data and fluoroscopy data was used. In two cases, a 3D model of the valve with PVL was printed. Conclusion Echocardiography, particularly the 3D mode, is the cornerstone of PVL imaging. Other imaging modalities, such as cardiac CT and cardiac magnetic resonance imaging, may be of complementary interest. New techniques such as imaging fusion and printing may further facilitate the percutaneous approach of PVLs.
Published: 2018

27. Long-Term Outcomes After Percutaneous Closure of Ostium Secundum Atrial Septal Defect in the Young

Author: Lucia Mauri, Claire Dauphin, Jérôme Petit, François Godart, Dominique Piot, Alban-Elouen Baruteau, Jean-René Lusson, Xavier Pillois, Matthias Lachaud, Yael Levy, Alain Fraisse, Caroline Ovaert, Sébastien Hascoët, Marie-Lou Dinet, Zakaria Jalal, Céline Gronier, J.B. Thambo, and Bruno Lefort
Subjects: medicine.medical_specialty, Heart septal defect, Percutaneous, business.industry, Septum secundum, 030204 cardiovascular system & hematology, medicine.disease, Confidence interval, Surgery, 03 medical and health sciences, 0302 clinical medicine, medicine, Long term outcomes, 030212 general & internal medicine, Closure (psychology), Cardiology and Cardiovascular Medicine, business, Cohort study, Ostium secundum atrial septal defect
Abstract: Objectives This study sought to assess procedural characteristics, early clinical outcome, and long-term complications after transcatheter closure of atrial septal defect (ASD) in children. Background Transcatheter closure has become the preferred strategy in most cases of isolated secundum ASD. However, reported experience in the pediatric population is limited. Methods A 1998 to 2016 retrospective multicenter study was performed in 9 French tertiary institutions. All children who had an attempt of percutaneous ASD closure with an Amplatzer Septal Occluder were included. Results In 1,326 children (39% males; median age, 9 years [0.7 to 18]; weight, 29 kg [3.6 to 92]), transcatheter ASD closure was performed. Median ASD size was 15 mm (3 to 41); 254 (19.1%) patients had a large ASD (≥20 mm/m2). Procedural success rate was 95.3% (95% confidence interval: 93.9% to 96.3%). No death was observed but periprocedural complications occurred in 24 patients (1.8%). After a median follow-up of 3.5 years (range 6 months to 18 years; 173 patients [13%] followed >10 years), delayed major complications were minimal (n = 12; 1.04%) including no death and/or cardiac erosion. Periprocedural and delayed complications rates were significantly higher in children ≤15 kg (5.2% vs. 1.5%; p = 0.007 and 3.1% vs. 0.7%; p Conclusions Transcatheter ASD closure using Amplatzer Septal Occluder is safe in children with a minimal rate of periprocedural complications and a favorable long-term outcome, especially with no death or cardiac erosion despite a substantial proportion of large defects. Children ≤15 kg and those with large ASDs had a greater risk of complications.
Published: 2018

28. Transcatheter occlusion of the patent ductus arteriosus in premature infants weighing less than 1200 g

Author: Stéphanie Douchin, Claire Dauphin, Patrice Morville, and Hélène Bouvaist
Subjects: Cardiac Catheterization, medicine.medical_specialty, Septal Occluder Device, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Ductus arteriosus, medicine, Humans, Neonatology, Ductus Arteriosus, Patent, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Obstetrics and Gynecology, General Medicine, Left pulmonary artery, Infant, Low Birth Weight, Surgery, Treatment Outcome, medicine.anatomical_structure, Pediatrics, Perinatology and Child Health, Transcatheter occlusion, Angiography, Gestation, business, Ligation, Infant, Premature, Venous cannulation
Abstract: ObjectivesOver the last few decades different strategies have been proposed to treat persistent ductal patency in premature infants. The advent of the Amplatzer Duct Occluder II Additional Size (ADOIIAS) provided the potential to close the patent ductus arteriosus (PDA). Opinions differ on the significance and treatment of PDA in premature neonates. Because surgical ligation and medical therapy both have their drawbacks, interventional catheterisation can be considered as an alternative means of closing the ductus arteriosus. Our aim was to analyse the feasibility, safety and efficacy of this device in premature infants weighing MethodsEighteen premature infants underwent transcatheter closure. The procedure was performed in the catheterisation laboratory by venous cannulation without angiography. The position of the occluder was directed by X-ray and ultrasound. We looked at procedural details, device size selection, complications and short-term and mid-term outcomes.ResultsEighteen infants born at gestational ages ranging between 23.6 and 29+6 weeks (mean±SD 25+6±3 weeks) underwent transcatheter PDA closure. Their mean age and weight at the time of the procedure was 20 days (range 8–44 days) and 980 g (range 680–1200 g), respectively. The mean PDA and device waist diameters were 3.2±0.6 mm (range 2.2–4 mm) and 4.5±0.6 mm, respectively, and the mean PDA and device lengths were 4.3±1.2 mm (range 2–10 mm) and 2.5±0.9 mm, respectively. Complete closure was achieved in all but one patient. There was no device migration. One patient developed a left pulmonary artery obstruction. Three infants died. Two deaths were related to complications of prematurity and one to the procedure.ConclusionsTranscatheter closure of a PDA is feasible in very low weight infants with ADOIIAS and is an alternative to surgery. Success requires perfect selection and placement of the occluder.
Published: 2017

29. A dynamic prognostic model to predict survival and determine treatment goals in pulmonary arterial hypertension (PAH): the EFORT study

Author: Pierre Clerson, Ari Chaouat, Claire Dromer, Martine Reynaud Gaubert, Pascal Degroote, Claire Dauphin, Xavier Jaïs, David Montani, Fabrice Bauer, Vincent Cottin, Arnaud Bourdin, Sébastien Renard, Christophe Pison, Gérald Simonneau, Laurent Savale, Olivier Sitbon, Marc Humbert, Emmanuel Bergot, and Grégoire Prévot
Subjects: medicine.medical_specialty, Prognostic variable, business.industry, Proportional hazards model, medicine.medical_treatment, Hazard ratio, Cardiac index, Logistic regression, Transplantation, Internal medicine, Cohort, medicine, Cardiology, Lung transplantation, business
Abstract: Guidelines recommend to periodically evaluate PAH severity with a panel of variables. Prognostic variables and cut-off values are currently based on expert opinion. Aims: The prospective multicentre EFORT study aimed to (i) determine transplant-free survival in a cohort of incident idiopathic, heritable or drug-induced PAH patients and (ii) identify prognostic variables and cut-off values using a dynamic model. Methods: NYHA functional class (FC), 6-min walk distance (6MWD), BNP or NT-proBNP level, and hemodynamic variables were collected at diagnosis, 3-4 months after each treatment initiation and once a year. Patients were censored at the time of transplantation or after a 60-month follow-up. Cox proportional hazard model with time-dependent covariates was used to characterise relevant variables, and logistic regression and multivariate adaptive regression splines analysis were performed to identify cut-off values. Results: 146 incident patients (67% females; 53±18 year-old) were included between 01/2012 and 12/2013. Transplant-free survival rates were 97%, 90%, 83% and 71% at 1, 2, 3 and 5 years, respectively. Time-dependent values for FC, 6MWD, cardiac index (CI) and BNP/NT-proBNP levels predicted transplant-free survival. With NYHA FC I-II, cut-off values were 400 m for 6MWD, 2.4L/min/m² for CI, 150 ng/L for BNP, 700 ng/L for NT-proBNP. Achieving at least 2 of these targets at any time during follow-up decreased the risk of death or lung transplantation with Hazard Ratios of 0.23 for 2, 0.10 for 3 and 0.04 for 4 targets achieved. Conclusion: The prospective EFORT study has robustly identified PAH prognostic variables and their cut-off values.
Published: 2019

30. Pulmonary hypertension associated with neurofibromatosis type 1: data from the French Pulmonary Hypertension Registry

Author: Fabrice Bauer, Laurent Bertoletti, Nicolas Favrolt, Laurent Savale, Florent Soubrier, Maria-Rosa Ghigna, Emmanuel Bergot, Etienne-Marie Jutant, Pamela Moceri, Xavier Jaïs, Gérald Simonneau, Pascal Degroote, Xavier Mignard, Pascal Magro, David Montani, Delphine Bourlier, Grégoire Prévot, Cécile Tromeur, Barbara Girerd, Olivier Sitbon, Marc Humbert, Julie Traclet, Pierre-Yves Brillet, Cécile Chabanne, Thibaud Soumagne, and Claire Dauphin
Subjects: medicine.medical_specialty, business.industry, medicine.medical_treatment, Cardiac index, medicine.disease, Pulmonary hypertension, Pulmonary function testing, medicine.anatomical_structure, DLCO, Internal medicine, medicine.artery, Pulmonary artery, Cardiology, Vascular resistance, Medicine, Lung transplantation, Neurofibromatosis, business
Abstract: Introduction: Pulmonary hypertension associated with neurofibromatosis type 1 (PH-NF1) is a rare but severe complication of NF1. The largest study about PH-NF1 described 8 patients and there are few data about outcomes on PH treatment. Methods: We report clinical, functional, radiologic, and hemodynamic characteristics and outcomes of patients with pre-capillary PH-NF1 identified within the French PH Registry. Computed tomography (CT) at PH diagnosis were analysed by a pneumologist and a radiologist. Results: We identified 39 NF1-PH cases, characterized by a female predominance (77%) and a median age at PH diagnosis of 63 [min-max 35-82] y-o. At diagnosis, 90% were in NYHA functional class III or IV. Median 6-min walk distance was 209 [50-460] m. Pulmonary function tests showed normal or mild abnormalities except low DLCO (29 [20-58] %). PH was severe with a mean pulmonary artery pressure of 45 [29-71] mmHg, a cardiac index of 2.3 [1.2-3.6] L/min/m2 and pulmonary vascular resistance of 9.8 [4.6-20.1] WU. CT showed pulmonary cysts (72%), ground glass opacities (67%) and emphysema (49%). 38 patients received PAH-specific therapy. Transplant-free survival rates at 1, 3 and 5 years were 92%, 64% and 44%, respectively. Four patients underwent lung transplantation. Conclusions: PH-NF1 was characterized by female predominance, advanced age, severe hemodynamic impairment and poor prognosis.
Published: 2019

31. 'Rehab for all!' Is it too early in pulmonary arterial hypertension?

Author: Laurent Bertoletti, Arnaud Bourdin, Claire Dauphin, Irina Enache, Ségolène Turquier, Christophe Pison, David Montani, Marie-France Seronde, Hélène Bouvaist, Souad Bezzeghoud, Cécile Tromeur, Service de Médecine Vasculaire et Thérapeutique, Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Service de Cardiologie, CHU Grenoble, Groupe d'Etude de la Thrombose de Bretagne Occidentale (GETBO), Université de Brest (UBO)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), CHU Clermont-Ferrand, Mitochondrie, stress oxydant et protection musculaire (MSP), Université de Strasbourg (UNISTRA), CHU Strasbourg, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Marqueurs pronostiques et facteurs de régulations des pathologies cardiaques et vasculaires - UFC ( EA 3920) (PCVP / CARDIO), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon)-Université de Franche-Comté (UFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Hypertension arterielle pulmonaire physiopathologie et innovation thérapeutique, Centre chirurgical Marie Lannelongue-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Pneumologie, Hôpital du Kremlin Bicêtre, AP-HP, Paris, France., AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon, Hospices Civils de Lyon (HCL), Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Université Grenoble Alpes (UGA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Joseph Fourier - Grenoble 1 (UJF), Université de Brest (UBO)-Université de Brest (UBO), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), and Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA)
Subjects: Pulmonary and Respiratory Medicine, medicine.medical_specialty, Pulmonary Arterial Hypertension, Rehabilitation, business.industry, Steering committee, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Hypertension, Pulmonary, MEDLINE, Evidence-based medicine, 3. Good health, 03 medical and health sciences, 0302 clinical medicine, 030228 respiratory system, Medicine, Humans, Familial primary pulmonary hypertension, Familial Primary Pulmonary Hypertension, 030212 general & internal medicine, business, Intensive care medicine, Exercise, ComputingMilieux_MISCELLANEOUS
Abstract: Rehabilitation appears to be beneficial in PAH patients, but more research is needed before increasing the level of evidence for recommendations.http://bit.ly/33zutuZ
Published: 2019

32. Cancer incidence in patients with pre-capillary pulmonary hypertension

Author: Christophe Pison, Elodie Bravos, Sandrine Accassat, Hélène Bouvaist, Victor Margelidon-Cozzolino, Elodie De Magalhaes, Claire Dauphin, Romain Trésorier, Laurent Bertoletti, Souad Bezzeghoud, Kais Ahmad, Julie Traclet, Jean-François Mornex, Vincent Cottin, Rétrovirus et Pathologie Comparée (RPC), Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Ecole Nationale Vétérinaire de Lyon (ENVL), Service de médecine interne, hôpital Gabriel-Montpied, CHU Clermont-Ferrand, CHU Grenoble, Infections Virales et Pathologie Comparée - UMR 754 (IVPC), Université de Lyon-Université de Lyon, CHU Gabriel Montpied (CHU), Centre Hospitalier Universitaire de Saint-Etienne (CHU de Saint-Etienne), Service de Médecine Vasculaire et Thérapeutique, Centre Hospitalier Universitaire [Grenoble] (CHU), Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Université Joseph Fourier - Grenoble 1 (UJF)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes (UGA), Service d'angiologie et d'hémostase (MR), Hôpital Universitaire de Genève, Institut National de la Recherche Agronomique (INRA)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Université Claude Bernard Lyon 1 (UCBL), Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019])
Subjects: Male, Pulmonary and Respiratory Medicine, Leptin, medicine.medical_specialty, Hypertension, Pulmonary, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, [SDV.MHEP.PSR]Life Sciences [q-bio]/Human health and pathology/Pulmonology and respiratory tract, 03 medical and health sciences, 0302 clinical medicine, Text mining, Neoplasms, Internal medicine, Body adiposity, medicine, Humans, In patient, Prospective Studies, Aged, Transplantation, business.industry, Incidence, Middle Aged, medicine.disease, Pulmonary hypertension, Cancer incidence, 030220 oncology & carcinogenesis, Permanent asthma, Female, Surgery, Cardiology and Cardiovascular Medicine, business
Abstract: International audience; OBJECTIVE:Obesity is a likely risk factor for asthma. However, underlying mechanisms by which obesity affects asthma activity remain poorly understood. This study aimed to investigate the role of leptin, an adipocyte-derived proinflammatory protein, as a mediator in the association between body adiposity (assessed using BMI, waist circumference, and body fat percentage) and persistent asthma.METHODS:A causal approach to mediation analysis was used to disentangle total and direct effects and the indirect effect mediated by leptin, using data from the French prospective French Epidemiological Study on the Genetics and Environment of Asthma (EGEA) (baseline: 2003-2007; follow-up: 2011-2013; mean follow-up time: 7 years). A total of 331 participants with current asthma at baseline were included.RESULTS:Per 1-SD increment in BMI, waist circumference, and body fat percentage, the adjusted odds ratios of the total effect were 1.59 (95% CI: 0.95-2.97), 2.06 (1.06-4.00), and 3.25 (1.01-9.41), respectively; the odds ratios of the indirect effect mediated by leptin were 1.68 (1.09-2.46), 1.55 (0.99-2.57), and 1.99 (0.94-4.83), respectively.CONCLUSIONS:Leptin partly (> 60%) mediated the association between high body adiposity and persistent asthma over time. Using a newly developed analytic approach, this longitudinal study brought new insight into one mechanism by which obesity may affect asthma activity.
Published: 2019

33. Validation of intracardiac shunt using thoracic bioimpedance and inert gas rebreathing in adults before and after percutaneous closure of atrial septal defect in a cardiology research unit: study protocol

Author: Bruno Pereira, Jean-René Lusson, Frédéric Costes, Aurélie Chalard, Romain Trésorier, Hélène Perrault, Laura Filaire, Ruddy Richard, Claire Dauphin, Thoracic and Endocrine Surgery, Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER-UNICANCER, Cardiology and Vascular Department, CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Faculty of Health Sciences, University of Ottawa [Ottawa], Respiratory and Epidemiology Clinical Research Unit, Montreal Chest Institute, McGill University Health Center [Montreal] (MUHC)-McGill University Health Center [Montreal] (MUHC), MCGill University Health Centre, Biostatistiques, Danone Research, Unité de Nutrition Humaine (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), médecine du sport et explorations fonctionnelles, Centre Jean Perrin, Centre Hospitalier Universitaire Gabriel Montpied, University of Ottawa [Ottawa] (uOttawa), Unité de Nutrition Humaine - Clermont Auvergne (UNH), Institut National de la Recherche Agronomique (INRA)-Université Clermont Auvergne (UCA), and Richard, Ruddy
Subjects: atrial septal defect (ASD), cardiac output, inert gas rebreathing, shunt quantification, thoracic bioimpedance, medicine.medical_specialty, Cardiac output, Percutaneous, Médecine humaine et pathologie, Cardiologie et système cardiovasculaire, Doppler echocardiography, Cardiovascular Medicine, Cardiography, Impedance, Noble Gases, Intracardiac injection, Heart Septal Defects, Atrial, 03 medical and health sciences, 0302 clinical medicine, Oxygen Consumption, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, Protocol, Medicine, Humans, 030212 general & internal medicine, Independent research, medicine.diagnostic_test, business.industry, General Medicine, Echocardiography, Doppler, 3. Good health, Clinical trial, Cardiology and cardiovascular system, Treatment Outcome, Breath Tests, Cardiology, Human health and pathology, Inert gas rebreathing, business, 030217 neurology & neurosurgery, Shunt (electrical), [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract: IntroductionIntrathoracic shunt quantification is a major factor for appropriate clinical management of heart and pulmonary diseases. Intracardiac shunts quantified by pulmonary to systemic output ratio (Qp/Qs) are generally assessed by Doppler echocardiography, MRI or catheterisation. Recently, some authors have suggested the concomitant use of thoracic bioimpedance (TB) and inert gas rebreathing (IGR) techniques for shunt quantification. The purpose of this study is to validate the use of this approach under conditions where shunt fraction is directly quantified such as in patients with isolated atrial septal defect (ASD).Methods and analysisThis trial is a prospective, observational single-centre, non-blinded study of adults seen for percutaneous closure of ASD. Qp/Qs ratio will be directly measured by Doppler echocardiography and direct Fick. IGR and TB will be used simultaneously to measure the cardiac output before and after closure: the ratio of outputs measured by IGR and TB reflecting the shunt fraction. The primary outcome will be the comparison of shunt values measured by TB-IGR and Doppler echocardiography.Ethics and disseminationThe study has been approved by an independent Research Ethics Committee (2017-A03149-44 Fr) and registered as an official clinical trial. The results will be published in a peer-reviewed journal.Trial registration numberNCT03437148; Pre-results.
Published: 2019

34. Survival Improved in Patients Aged ≤ 70 Years With Systemic Sclerosis-Associated Pulmonary Arterial Hypertension During the Period 2006 to 2017 in France

Author: Pascal de Groote, Jonathan Giovannelli, Athénaïs Boucly, Jason Weatherald, Gérald Simonneau, Grégory Pugnet, Luc Mouthon, David Montani, Vincent Cottin, Delphine Bourlier, Grégoire Prévot, Olivier Sitbon, Marc Humbert, Ari Chaouat, Eric Hachulla, David Launay, and Claire Dauphin
Subjects: Pulmonary and Respiratory Medicine, Endothelin Receptor Antagonists, Male, medicine.medical_specialty, Combination therapy, Hypertension, Pulmonary, Critical Care and Intensive Care Medicine, Risk Assessment, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, Humans, 030212 general & internal medicine, Pulmonary wedge pressure, Correlation of Data, Associated Pulmonary Arterial Hypertension, Aged, Retrospective Studies, Scleroderma, Systemic, business.industry, Proportional hazards model, Endothelin receptor antagonist, Confounding, Hazard ratio, Age Factors, Middle Aged, Phosphodiesterase 5 Inhibitors, Survival Analysis, medicine.anatomical_structure, 030228 respiratory system, Vascular resistance, Drug Therapy, Combination, Female, France, Cardiology and Cardiovascular Medicine, business
Abstract: Background To date, nothing is known about the evolution of survival in systemic sclerosis-associated pulmonary arterial hypertension (PAH) over the last decade. Methods This study used a multivariate Cox regression model adjusted for clinically relevant baseline confounders to assess the association between the occurrence of death and date of PAH diagnosis comparing two periods of the same duration (2006-2011 vs 2012-2017). Interactions between the two diagnosis periods and baseline variables were tested. Results A total of 306 incident patients were included, 167 (54.6%) with a PAH diagnosis occurring in 2006 to 2011 and 139 (45.4%) in 2012 to 2017. No significant difference in survival was observed between patients diagnosed with PAH in 2012 to 2017 compared with those diagnosed in 2006 to 2011 (hazard ratio [HR], 0.76 [0.46-1.26]; P = .29). A significant interaction was observed between PAH diagnosis periods and age (P = .05). When stratifying according to age (based on the median age of 70 years), a significant increase was observed in survival in patients aged ≤ 70 years between the 2006 to 2011 period and the 2012 to 2017 period (HR, 0.40 [0.17-0.99]; P = .046) but not in older patients (HR, 1.29 [0.67-2.51]; P = .44). A significantly higher proportion of initial (ie, within the first 4 months) endothelin receptor antagonist/phosphodiesterase type 5 inhibitor combination therapy was observed in younger patients diagnosed from 2012 to 2017 vs those diagnosed from 2006 to 2011 (42.9% vs 19.5%; P = .002) but not in older patients. Conclusions Over the period 2006 to 2017, survival in systemic sclerosis-associated PAH improved over time in patients aged ≤ 70 years but not in older patients. Further investigations are needed to confirm this relation, as general improvement in medical care and management may also be a possible explanation.
Published: 2019

35. Impact of a centre and home-based cardiac rehabilitation program on the quality of life of teenagers and young adults with congenital heart disease: The QUALI-REHAB study rationale, design and methods

Author: Laurent Poirette, Frederique Sidney, Claire Dauphin, Fanny Bajolle, Loïc Macé, Magalie Ladouceur, Nicolas Combes, Laurence Cohen, Oxana-Anca Neagu, Arthur Gavotto, Philippe Brosset, Antoine Legendre, Pascal Amedro, Camille Soullier, Stefan Matecki, Yves Dulac, Hélène Bouvaist, Gilles Bosser, Jean-Benoit Thambo, Sébastien Hascoët, Caroline Ovaert, Sophie Guillaumont, Xavier Iriart, Damien Bonnet, Sonia Corone, Manon Ladeveze, Sarah Cohen, Gregoire De La Villeon, Charlene Bredy, D'Arcy Vandenberghe, Kathleen Lavastre, Marie-Christine Picot, Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5), Institut Régional de Médecine Physique et de Réadaptation Louis Pierquin [Nancy] (IRR Louis Pierquin), Centre Hospitalier Universitaire [Grenoble] (CHU), Service de Pédiatrie médicale [CHU Limoges], CHU Limoges, Centre de Recherche Magellan, Université Jean Moulin - Lyon 3 (UJML), Université de Lyon-Université de Lyon-Institut d'Administration des Entreprises (IAE) - Lyon, Université Grenoble Alpes - UFR Pharmacie (UGA UFRP), Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Centre médical de Bligny, Centre hospitalier de Bligny, 91640 Briis-sous-Forges, Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, CHU Clermont-Ferrand, Service pédiatrie-cardiologie, CHU Toulouse [Toulouse]-Hôpital des Enfants, CHU Toulouse [Toulouse], Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Centre de Physiopathologie Toulouse Purpan (CPTP), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Paris-Centre de Recherche Cardiovasculaire (PARCC - UMR-S U970), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Marseille, Centre réhabilitation Cardiaque de Beaumont de Lomagne, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Leon Berard Hospital, Centre Hospitalier Universitaire de Nîmes (CHU Nîmes), Service cardiologie pédiatrique [Bordeaux], CHU Bordeaux [Bordeaux], Clinique Pasteur [Toulouse], Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Recherche Magellan, Service Cardiologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), and MORNET, Dominique
Subjects: Adult, Heart Defects, Congenital, Male, medicine.medical_specialty, Heart disease, Adolescent, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Population, 030204 cardiovascular system & hematology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Deconditioning, Quality of life, medicine, Humans, 030212 general & internal medicine, Prospective Studies, Young adult, education, ComputingMilieux_MISCELLANEOUS, education.field_of_study, [SDV.GEN]Life Sciences [q-bio]/Genetics, Rehabilitation, Cardiac Rehabilitation, Exercise Tolerance, business.industry, VO2 max, medicine.disease, Home Care Services, 3. Good health, [SDV] Life Sciences [q-bio], Treatment Outcome, Physical therapy, Quality of Life, Health education, Female, Cardiology and Cardiovascular Medicine, business, Follow-Up Studies
Abstract: Background Advances in congenital heart disease (CHD) have transferred the mortality from childhood to adulthood. Exercise capacity in young patients with CHD remains lower than in the general population, resulting in deconditioning and impaired quality of life. Evidence based-medicine in cardiac rehabilitation in this age group with CHD remains limited. We present the QUALI-REHAB study rationale, design and methods. Methods The QUALI-REHAB trial is a nationwide, multicentre, randomised, controlled study, aiming to assess the impact of a combined centre and home-based cardiac rehabilitation program on the quality of life of adolescents and young adults (13 to 25 years old) with CHD. Patients with a maximum oxygen uptake (VO2max) Conclusion After focusing on the survival in CHD, current research is opening on secondary prevention and patient-related outcomes. The QUALI-REHAB trial intends to assess if a combined centre and home-based rehabilitation program, could improve the quality of life and the exercise capacity in youth with CHD. Trial registration: Clinicaltrials.gov ( NCT03690518 ).
Published: 2018

36. Recurrent pericarditis: current challenges and future prospects

Author: Claire Dauphin, Romain Trésorier, Aurélie Chalard, Jean-René Lusson, Martin Soubrier, and Etienne Merlin
Subjects: medicine.medical_specialty, business.industry, medicine, General Medicine, Current (fluid), Recurrent pericarditis, Intensive care medicine, business
Published: 2016

37. Mitral and aortic paravalvular leaks closure: Insights from the prospective international multicenter FFPP cohort study

Author: Mohammed Nejjari, Rémy Pillière, Nicolas Combes, Sébastien Armero, L. Mangin, Grzegorz Smolka, Guillaume Leurent, Xavier Iriart, Fabrice Bauer, Yoan Lavie-Badie, Christian Spaulding, Hélène Bouvaist, B. Gerardin, Nadjib Hammoudi, Eric Brochet, V. Ciobotaru, Adel Aminian, Claire Dauphin, Sébastien Hascoët, and D. Champagnac
Subjects: Hemolytic anemia, medicine.medical_specialty, Blood transfusion, Ejection fraction, Percutaneous, business.industry, medicine.medical_treatment, medicine.disease, Heart failure, Internal medicine, cardiovascular system, Cardiology, Medicine, Cardiology and Cardiovascular Medicine, business, Complication, Stroke, Cohort study
Abstract: Background Percutaneous paravalvular leak closure (PVLc) has emerged as an alternative to surgery. It remains a technically challenging procedure. We aim to compare outcomes after mitral and aortic PVLc. Methods We analyzed data from PVLc procedures performed over the 2 first years of inclusion in the FFPP (Fermeture de Fuite Periprothetique) study, a prospective observational industry-independent cohort study which started in January 2017. Results We analyzed 147 PVLc (99 mitral–48 aortic), performed in 127 patients (1 procedure in 109 patients, 2 in 16 and 3 in 2) included in 22 centers among 3 countries (France, Poland and Belgium). Age (69 ± 10 versus 69 ± 11 yo), left ventricular ejection fraction (56 versus 51%), Euroscore2 (9 versus 7.6) and rate of mechanical valve (56.7% versus 41.7%, P = 0.1) were not significantly different among mitral and aortic groups. All patients had heart failure and/or hemolytic anemia. Hemolysis was more common in mitral PVL (62 versus 43%, P = 0.04). A mean of 1.4 (min 1, max 3) and 1.8 (min 1 max 5) devices were respectively required for technically successful aortic and mitral PVLc. No complication was reported in procedures with failure of device implantation. Aortic PVLc were faster than mitral PVLc (1h18 versus 2h20), with a trend towards a higher rate of technical success (96% versus 87%, P = 0.1) and fewer rate of major adverse events (worsening hemolysis, stroke, life threatening events and deaths; 2% versus 14%, P = 0.02). At 1 month follow-up, events were reported in 2% of patients (blood transfusion for hemolysis) versus 26.2% (deaths 3.3%; hemolysis 14.8%; heart failure 3.3%; heart failure and hemolysis 4.9%) after successful aortic and mitral PVLc respectively, P = 0.6. Conclusion Mitral PVLc is a more complex procedure than aortic PVLc, with a lower success rate and a higher risk of peri-procedural and one-month severe adverse events. Longer follow-up data are expected and will be available from this on-going study.
Published: 2020

38. Long-Term Outcomes After Percutaneous Closure of Ostium Secundum Atrial Septal Defect in the Young: A Nationwide Cohort Study

Author: Zakaria, Jalal, Sébastien, Hascoët, Céline, Gronier, François, Godart, Lucia, Mauri, Claire, Dauphin, Bruno, Lefort, Matthias, Lachaud, Dominique, Piot, Marie-Lou, Dinet, Yael, Levy, Alain, Fraisse, Caroline, Ovaert, Xavier, Pillois, Jean-René, Lusson, Jérôme, Petit, Alban-Elouen, Baruteau, and Jean-Benoit, Thambo
Subjects: Male, Cardiac Catheterization, Time Factors, Adolescent, Septal Occluder Device, Body Weight, Age Factors, Infant, Heart Septal Defects, Atrial, Treatment Outcome, Risk Factors, Child, Preschool, Humans, Female, France, Child, Retrospective Studies
Abstract: This study sought to assess procedural characteristics, early clinical outcome, and long-term complications after transcatheter closure of atrial septal defect (ASD) in children.Transcatheter closure has become the preferred strategy in most cases of isolated secundum ASD. However, reported experience in the pediatric population is limited.A 1998 to 2016 retrospective multicenter study was performed in 9 French tertiary institutions. All children who had an attempt of percutaneous ASD closure with an Amplatzer Septal Occluder were included.In 1,326 children (39% males; median age, 9 years [0.7 to 18]; weight, 29 kg [3.6 to 92]), transcatheter ASD closure was performed. Median ASD size was 15 mm (3 to 41); 254 (19.1%) patients had a large ASD (≥20 mm/mTranscatheter ASD closure using Amplatzer Septal Occluder is safe in children with a minimal rate of periprocedural complications and a favorable long-term outcome, especially with no death or cardiac erosion despite a substantial proportion of large defects. Children ≤15 kg and those with large ASDs had a greater risk of complications.
Published: 2017

39. HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy

Author: Claire Dauphin, Gilles Millat, Alexandre Janin, Antoine Roux, and Olivier de Tauriac
Subjects: Bradycardia, Potassium Channels, Adolescent, Sinus bradycardia, Molecular Sequence Data, Cardiomyopathy, Muscle Proteins, Bioinformatics, medicine.disease_cause, Young Adult, Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels, Genetics, medicine, Humans, Genetic Testing, Child, Genetics (clinical), Mutation, Massive parallel sequencing, Base Sequence, business.industry, General Medicine, medicine.disease, Phenotype, Molecular analysis, Hcn4 gene, Female, medicine.symptom, Cardiomyopathies, business
Abstract: A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic cardiovascular exploration and molecular investigations. The molecular analysis, performed by NGS sequencing, led to identify only one likely-disease causing variation: p.Gly482Arg on HCN4 gene. Our results confirm the genetic evidence for the involvement of the HCN4 mutations in the combined bradycardia-NCCM phenotype and illustrates that, in front of this combined clinical phenotype, HCN4 mutations has to be suspected.
Published: 2015

40. Usefulness of intracardiac echocardiography for the diagnosis of infective endocarditis following percutaneous pulmonary valve replacement

Author: Aurélie Chalard, Sara Bouajila, and Claire Dauphin
Subjects: Adult, Male, medicine.medical_specialty, Intracardiac echocardiography, Percutaneous, 22q11 Deletion Syndrome, Prosthesis-Related Infections, medicine.medical_treatment, 030204 cardiovascular system & hematology, Transoesophageal echocardiography, Prosthesis, Cardiac Catheters, 03 medical and health sciences, 0302 clinical medicine, Postoperative Complications, Internal medicine, Pulmonary Valve Replacement, medicine, Humans, 030212 general & internal medicine, Heart Valve Prosthesis Implantation, Endocarditis, business.industry, General Medicine, medicine.disease, Double Outlet Right Ventricle, Infective endocarditis, Fluoroscopy, Heart Valve Prosthesis, Pediatrics, Perinatology and Child Health, Cardiology, Cardiology and Cardiovascular Medicine, Complication, business, Echocardiography, Transesophageal
Abstract: Infective endocarditis is a serious complication occurring after percutaneous pulmonary valve replacement with a Melody valve; it is of uncertain incidence, and presents a challenging diagnosis. Vegetations may be difficult to visualise with transthoracic and transoesophageal echocardiography. We report the role of intracardiac echocardiography in this condition by confirming the prosthesis involvement.
Published: 2017

41. Truncating mutations on myofibrillar myopathies causing genes as prevalent molecular explanations on patients with dilated cardiomyopathy

Author: Valérie Chanavat, Karine Nguyen, Philippe Chevalier, Alexandre Janin, Patrice Bouvagnet, Gilbert Habib, Romain Eschalier, Nathalie Streichenberger, Claire Dauphin, Gilles Millat, Institut NeuroMyoGène (INMG), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de cardiologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR48, Institut des sciences biologiques (INSB-CNRS)-Institut des sciences biologiques (INSB-CNRS)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), ONERA - The French Aerospace Lab [Palaiseau], ONERA-Université Paris Saclay (COmUE), Université de Lyon-Université de Lyon-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), and INSB-INSB-Centre National de la Recherche Scientifique (CNRS)
Subjects: 0301 basic medicine, Proband, Adult, Cardiomyopathy, Dilated, Male, Filamins, Gene Expression, 030204 cardiovascular system & hematology, Bioinformatics, Sudden death, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Genetics, Medicine, Humans, Connectin, FLNC, cardiovascular diseases, Gene, Genetics (clinical), Genetic testing, Adaptor Proteins, Signal Transducing, medicine.diagnostic_test, business.industry, Infant, Newborn, High-Throughput Nucleotide Sequencing, Dilated cardiomyopathy, Middle Aged, medicine.disease, musculoskeletal system, Survival Analysis, Pathophysiology, 3. Good health, Pedigree, 030104 developmental biology, Heart failure, Mutation, cardiovascular system, Female, France, business, Apoptosis Regulatory Proteins, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Myopathies, Structural, Congenital
Abstract: International audience; Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure with high morbidity and mortality. More than 40 genes have been reported to cause DCM. To provide new insights into the pathophysiology of dilated cardiomyopathy, a next-generation sequencing (NGS) workflow based on a panel of 48 cardiomyopathies-causing genes was used to analyze a cohort of 222 DCM patients. Truncating variants were detected on 63 unrelated DCM cases (28.4%). Most of them were identified, as expected, on TTN (29 DCM probands), but truncating variants were also identified on myofibrillar myopathies causing genes in 17 DCM patients (7.7% of the DCM cohort): 10 variations on FLNC and 7 variations on BAG3. This study confirms that truncating variants on myofibrillar myopathies causing genes are frequently associated with dilated cardiomyopathies and also suggest that FLNC mutations could be considered as a common cause of dilated cardiomyopathy. Molecular approaches that would allow to detect systematically truncating variants in FLNC and BAG3 into genetic testing should significantly increase test sensitivity, thereby allowing earlier diagnosis and therapeutic intervention for many patients with dilated cardiomyopathy.
Published: 2017

42. Outcome of adults with Eisenmenger syndrome treated with drugs specific to pulmonary arterial hypertension: A French multicentre study

Author: Pierre Mauran, Ali Houeijeh, Elise Barre, Clément Karsenty, Hélène Bouvaist, Pamela Moceri, Xavier Iriart, Elie Fadel, Adélaïde Richard, Nathalie Souletie, Emmanuelle Fournier, Lauriane Le Gloan, Magalie Ladouceur, Xavier Jaïs, Yvette Bernard, François Godart, Jelena Radojevic, Jérôme Petit, Laurence Iserin, Damien Bonnet, Gilles Bosser, Sébastien Hascoët, Pascal Amedro, Claire Dauphin, Adeline Basquin, Olivier Sitbon, Marc Humbert, Université Paris-Sud - Paris 11 - Faculté de médecine (UP11 UFR Médecine), Université Paris-Sud - Paris 11 (UP11), Centre de Référence des cardiopathies congénitales (M3C), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Descartes - Paris 5 (UPD5)-PRES Sorbonne Paris Cité-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université Paris-Saclay, Hôpital Bicêtre, Centre hospitalier universitaire de Nantes (CHU Nantes), Service de médecine interne, hôpital Gabriel-Montpied, CHU Clermont-Ferrand, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Bordeaux [Bordeaux], Physiologie & médecine expérimentale du Cœur et des Muscles [U 1046] (PhyMedExp), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Cardiologie [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Toulouse [Toulouse], Centre Hospitalier Régional Universitaire [Besançon] (CHRU Besançon), Hôpital Pasteur [Nice] (CHU), CHU Grenoble, Centre Hospitalier Universitaire de Reims (CHU Reims), CHU Rouen, Normandie Université (NU), Service de cardiologie et maladies vasculaires, Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Hôpital Pontchaillou-CHU Pontchaillou [Rennes], CHU Pontchaillou [Rennes], CHU Necker - Enfants Malades [AP-HP], Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Centre chirurgical Marie Lannelongue, Hypertension arterielle pulmonaire physiopathologie et innovation thérapeutique, Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre chirurgical Marie Lannelongue, Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ U970)), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], and Centre chirurgical Marie Lannelongue-Institut National de la Santé et de la Recherche Médicale (INSERM)
Subjects: Male, Pediatrics, Time Factors, Kaplan-Meier Estimate, 030204 cardiovascular system & hematology, Pulmonary arterial hypertension, Gastroenterology, Congenital heart diseases, 0302 clinical medicine, Risk Factors, Cause of Death, 030212 general & internal medicine, Longitudinal Studies, Child, Cause of death, Outcome, Cardiopathies congénitales, Age Factors, Hypertension artérielle pulmonaire, General Medicine, Middle Aged, [SDV.SP]Life Sciences [q-bio]/Pharmaceutical sciences, Syndrome d’Eisenmenger, 3. Good health, Treatment Outcome, Disease Progression, Female, France, Drug therapy, Cardiology and Cardiovascular Medicine, Cohort study, Médicament, Adult, medicine.medical_specialty, Adolescent, Hypertension, Pulmonary, Pulmonary Artery, Lower risk, Disease-Free Survival, 03 medical and health sciences, Young Adult, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, medicine, Pronostic, Humans, Arterial Pressure, Antihypertensive Agents, Proportional Hazards Models, Retrospective Studies, Chi-Square Distribution, business.industry, Eisenmenger syndrome, Retrospective cohort study, Eisenmenger Complex, medicine.disease, Pulmonary hypertension, Confidence interval, Transplantation, Multivariate Analysis, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business
Abstract: International audience; Background: The relationship between pulmonary arterial hypertension-specific drug therapy (PAH-SDT) and mortality in Eisenmenger syndrome (ES) is controversial.Aims: To investigate outcomes in patients with ES, and their relationship with PAH-SDT.Methods: Retrospective, observational, nationwide, multicentre cohort study.Results: We included 340 patients with ES: genetic syndrome (n = 119; 35.3%); pretricuspid defect (n = 75; 22.1%). Overall, 276 (81.2%) patients received PAH-SDT: monotherapy (endothelin receptor antagonist [ERA] or phosphodiesterase 5 inhibitor [PDE5I]) 46.7%; dual therapy (ERA + PDE5I) 40.9%; triple therapy (ERA + PDE5I + prostanoid) 9.1%. Median PAH-SDT duration was 5.5 years [3.0–9.1 years]. Events (death, lung or heart-lung transplantation) occurred in 95 (27.9%) patients at a median age of 40.5 years [29.4–47.6]. The cumulative occurrence of events was 16.7% [95% confidence interval 12.8–21.6%] and 46.4% [95% confidence interval 38.2–55.4%] at age 40 and 60 years, respectively. With age at evaluation or time since PAH diagnosis as time scales, cumulative occurrence of events was lower in patients taking one or two PAH-SDTs (P = 0.0001 and P = 0.004, respectively), with the largest differences in the post-tricuspid defect subgroup (P < 0.001 and P < 0.02, respectively) versus patients without PAH-SDT. By multivariable Cox analysis, with time since PAH diagnosis as time scale, New York Heart Association/World Health Organization functional class III/IV, lower peripheral arterial oxygen saturation and pretricuspid defect were associated with a higher risk of events (P = 0.002, P = 0.01 and P = 0.04, respectively), and one or two PAH-SDTs with a lower risk of events (P = 0.009).Conclusions: Outcomes are poor in ES, but seem better with PAH-SDT. ES with pretricuspid defects has worse outcomes despite the delayed disease onset.; Contexte: L’intérêt du traitement médical spécifique (TMS) de l’hypertension artérielle pulmonaire (HTAP) dans le syndrome d’Eisenmenger (SE) est controversé.Objectifs: Étudier le pronostic à long terme des patients ayant un SE et la relation avec le TMS.Méthodes: Une cohorte observationnelle longitudinale multicentrique rétrospective historique française de 340 SE a été constituée.Résultats: Le shunt était prétricuspide dans 75 cas (22,1 %). Au total, 276 (81,2 %) patients étaient sous TMS (monothérapie 46,7 % ; bi-thérapie 40,9 % ; tri-thérapie 9,1 %). La durée médiane de TMS était de 5,5 ans [3,0–9,1]. Un événement clinique majeur (ECM : décès, transplantation cardiopulmonaire ou bipulmonaire) a été observé dans 95 (27,9 %) cas à un âge médian de 40,5 [29,4–47,6] ans. La survenue cumulée d’un ECM était de 16,7 % [IC 95 % 12,8–21,6 %] et 46,4 % [IC 95 % 38,2–55,4 %] à l’âge de 40 et 60 ans. Avec l’âge ou le délai depuis le premier examen comme échelle temporelle, la survenue cumulée des ECM était moindre chez les patients sous un ou deux TMS (p = 0,0001 et p = 0,004), en particulier chez les patients avec un shunt post-tricuspide (p < 0,001 et p < 0,02) comparée aux patients sans TMS. Une analyse multivariée de Cox avec le délai depuis le diagnostic de l’HTAP comme échelle temporelle a montré qu’une classe fonctionnelle III ou IV de la NYHA/WHO, une saturation périphérique en oxygène basse (en variable continue), un shunt pré-tricuspide et l’absence de TMS étaient associés à un risque augmenté d’ECM (p = 0,002 ; p = 0,01 ; p = 0,04 and p = 0,009, respectivement).Conclusions: Le TMS dans le SE semble associé à un meilleur pronostic. Néanmoins, même avec un traitement médical palliatif, le pronostic du SE reste altéré. Les patients avec un shunt prétricuspide ont un profil clinique et un pronostic plus sombre malgré une survenue plus tardive de l’HTAP.
Published: 2017

43. Upfront triple combination therapy in pulmonary arterial hypertension: a pilot study

Author: Sophie Bulifon, Elise Artaud Macari, Claire Dauphin, Laurent Savale, Olivier Sitbon, Xavier Jaïs, Marc Humbert, Emmanuel Bergot, François Picard, Hélène Bouvaist, Gérald Simonneau, David Montani, and Vincent Cottin
Subjects: Adult, Male, Pulmonary and Respiratory Medicine, medicine.medical_specialty, Adolescent, Sildenafil, Hypertension, Pulmonary, Hemodynamics, Pilot Projects, Piperazines, Sildenafil Citrate, Young Adult, chemistry.chemical_compound, Pharmacotherapy, Internal medicine, medicine, Humans, Registries, Sulfones, Antihypertensive Agents, Aged, Retrospective Studies, Sulfonamides, Lung, business.industry, Bosentan, Retrospective cohort study, Middle Aged, Prognosis, Epoprostenol, Surgery, Regimen, Treatment Outcome, medicine.anatomical_structure, chemistry, Purines, Cohort, Drug Therapy, Combination, Female, business, Follow-Up Studies, medicine.drug
Abstract: Patients with severe pulmonary arterial hypertension (PAH) in New York Heart Association (NYHA) functional class (FC) III/IV have a poor prognosis, despite survival benefits being demonstrated with intravenous epoprostenol. In this pilot study, the efficacy and safety of a triple combination therapy regimen in patients with severe PAH was investigated. Data from newly diagnosed NYHA FC III/IV PAH patients (n=19) initiated on upfront triple combination therapy (intravenous epoprostenol, bosentan and sildenafil) were collected retrospectively from a prospective registry. Significant improvements in 6-min walk distance and haemodynamics were observed after 4 months' triple combination therapy in 18 patients (p
Published: 2014

44. Mid-term results of self-testing of the international normalized ratio in adults with a mechanical heart valve

Author: Nicola D’Ostrevy, Bruno Pereira, Etienne Geoffroy, Enrica Dorigo, Nicolas Dauphin, Kasra Azarnoush, Lionel Camilleri, B. Legault, and Claire Dauphin
Subjects: Male, Pediatrics, medicine.medical_specialty, Vitamin K, Mid term results, Hemorrhage, Vitamin k, Medical care, Mechanical heart-valve, Quality of life, Thromboembolism, Humans, Medicine, International Normalized Ratio, Aged, business.industry, Follow up studies, Anticoagulants, Hematology, Middle Aged, Self Care, Laboratory test, Heart Valve Prosthesis, Female, business, Follow-Up Studies
Abstract: Background Commonly the frequency of international normalized ratio (INR) monitoring with a conventional laboratory test in stable patients is once a month. When using a dedicated personal device for INR assessment, the frequency may be increased to two or more times a month. Objective To show that INR assessed by self-measurement at home is reliable and feasible in the mid-term and improves medical care. Patients and methods All patients in the study on INR self-measurement (clinical trial.gov: NCT00925197 ), conducted between 2004 and 2007, were re-contacted for mid-term follow-up. One hundred and seventy eight out of 192 patients who participated in the study answered a questionnaire. The average follow-up time was 4.2 years (± 1) for the self-measurement group and 4.9 years (± 1) for the laboratory-analyzed control group. Results Only 26 patients (group A) continued to use INR self-measurement to monitor treatment with vitamin K antagonists (VKA). The main reasons to stop INR self-measurement were its high cost and difficulty in obtaining strips. There were significantly fewer bleeding complications (p = 0.04) and complications related to VKA (p = 0.01) in self-measured patients compared to the control group. Feelings of security and quality of life were also significantly better (p = 0.002) for self-measured patients. Conclusion Many patients with a mechanical heart valve, who self-measured INR, continue to use this method for their follow-up because of its positive effects on their health and quality of life.
Published: 2014

45. Valeur de l’échocardiographie dans l’évaluation, le suivi, et le pronostic de patients atteints d’hypertension artérielle pulmonaire : résultats de l’étude multicentrique prospective EFORT-Echo

Author: C. Saunier, Nicolas Michel, Claire Dauphin, Julie Haentjens, C. Sportouch, Sébastien Renard, P. De Groote, O. Sitbon, H. Samet, C. Chabanne, Gilbert Habib, C. Selton Suty, M. Orabona, Noémie Resseguier, and C. Miola
Subjects: Pulmonary and Respiratory Medicine
Abstract: Introduction L’echocardiographie presente un role central dans l’evaluation de la fonction ventriculaire droite (VD) des patients atteints d’Hypertension Arterielle Pulmonaire (HTAP). La plupart des parametres echographiques pronostiques identifies sont issus d’etudes retrospectives realisees avant l’air des therapies modernes. L’objectif de cette etude etait de determiner les parametres echocardiographiques evolutifs et pronostiques d’une population incidente de patients atteints d’HTAP sous traitement specifique et d’etudier leur reproductibilite. Methodes Les patients inclus etaient issus de l’etude prospective francaise multicentrique EFORT (Evaluation des Facteurs pronostiques et des Objectifs therapeutiques dans l’hypeRTension arterielle pulmonaire). Les donnees echocardiographiques initiales et de suivi provenaient d’une relecture centralisee au sein d’un Core Lab en aveugle des donnees cliniques. Le critere de jugement principal etait la mortalite toute cause.Resultats 52 patients atteints d’HTAP (idiopathique (n = 36), heritable (n = 9), toxiques (n = 5) et autres (n = 2)) etaient inclus. Sous traitement specifique (65 % therapie combinee, 35 % monotherapie), on notait une amelioration significative du Tricuspid Annular Plane Systolic Excursion (TAPSE), (p = 0,001), de l’onde S tricuspide (p = 0,035), du Strain lateral du VD (p = 0, 012) et du Strain global du VD (p = 0,043). Durant un suivi moyen de 3,5 ans , 10 patients decedaient. La survie estimee etait de 96 %, 84 % et 74 % a respectivement 1, 3 et 5 ans. Les seuls facteurs pronostiques echocardiographiques etaient en analyse univariee l’augmentation ≥ 2 mm du TAPSE et ≥ 2 cm/s de l’onde S tricuspide au cours du suivi (respectivement Hazard Ratio (HR) = 0,13 [0,01 ; 0,56] ; p = 0,004, et HR = 0,19 [0,02 ; 0,82] ; p = 0,024). Parmi tous les parametres echocardiographiques etudies, les plus reproductibles etaient l’onde S tricuspide, le Strain global du VD, la surface de l’oreillette droite, le Strain lateral du VD et le TAPSE avec un coefficient de correlation intra classe respectivement a 0,9, 0,87, 0,82, 0,81 et 0,78. Les facteurs pronostiques cliniques significatifs etaient l’âge, la classe NYHA, le test de marche de 6 minutes (TM6) sous traitement ainsi que la PaO 2 et le DLCO a l’inclusion et sous traitement. Conclusion Chez les patients atteints d’HTAP, la variation du TAPSE et la variation de l’onde S tricuspide au cours du suivi seraient les parametres echocardiographiques pronostiques les plus pertinents et les plus reproductibles.
Published: 2019

46. Resistant or recurrent acute pericarditis: A new therapeutic opportunity?

Author: Martin Soubrier, Romain Eschalier, Claire Dauphin, Jean René Lusson, and Claire Massardier
Subjects: medicine.medical_specialty, Anakinra, business.industry, Recurrent acute, medicine.disease, Gastroenterology, Pericarditis, Interleukin 1 receptor antagonist, Internal medicine, medicine, Recurrent pericarditis, Cardiology and Cardiovascular Medicine, business, medicine.drug
Published: 2014

47. A prospective study of the 6 min walk test as a surrogate marker for haemodynamics in two independent cohorts of treatment-naive systemic sclerosis-associated pulmonary arterial hypertension

Author: Sébastien Sanges, Pascal de Groote, L. Rottat, David Launay, Clément Boissin, Gérald Simonneau, Emmanuel Bergot, Grégoire Prévot, Christophe Gut-Gobert, Claire Dauphin, Loïc Guillevin, Matthieu Canuet, François Conesa, Pascal Magro, Céline Chabanne, Pierre Clerson, David Montani, Olivier Sitbon, Vincent Cottin, Rennie L. Rhee, Marc Humbert, Sylvie Leroy, Fabrice Bauer, Jean-François Cordier, Martine Reynaud-Gaubert, Gilbert Habib, Olivier Sanchez, Christophe Pison, Eric Hachulla, Steven M. Kawut, Luc Mouthon, Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), Université Claude Bernard Lyon 1 ( UCBL ), Université de Lyon, Service de Pneumologie, Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon ( HCL ) -Hospices Civils de Lyon ( HCL ), Service de cardiologie [Rouen], CHU Rouen-Université de Rouen Normandie ( UNIROUEN ), Normandie Université ( NU ) -Normandie Université ( NU ), CHU Caen, Laboratoire Traitement du Signal et de l'Image ( LTSI ), Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Service de cardiologie et maladies vasculaires, Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -Hôpital Pontchaillou-CHU Pontchaillou [Rennes], Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes ( URMITE ), Institut de Recherche pour le Développement ( IRD ) -Aix Marseille Université ( AMU ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -IFR48, INSB-INSB-Centre National de la Recherche Scientifique ( CNRS ), Hôpital Nord [CHU - APHM], Service de Pneumologie ( NICE - Pneumo ), CHU Nice, Service de pneumologie (Strasbourg), CHU Strasbourg-Nouvel Hôpital Civil, Hôpital Européen Georges Pompidou [APHP] ( HEGP ), Département de Médecine Interne et Pneumologie [Brest] ( DMIP - Brest ), Centre Hospitalier Régional Universitaire de Brest ( CHRU Brest ), Service de médecine interne, hôpital Gabriel-Montpied, CHU Clermont-Ferrand, Laboratoire de bioénergétique fondamentale et appliquée ( LBFA ), Université Joseph Fourier - Grenoble 1 ( UJF ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Grenoble Alpes ( UGA ), European Institute for Systems Biology and Medicine ( EISBM ), Clinique de pneumologie, CHU Grenoble, Service de cardiologie, Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille ( APHM ) - Hôpital de la Timone [CHU - APHM] ( TIMONE ), Orgamétrie biostatistiques, Hospices Civils de Lyon ( HCL ), Service de Pneumologie et Réanimation Respiratoire ( DHU TORINO ), Assistance publique - Hôpitaux de Paris (AP-HP)-Hôpital Bicêtre-Centre de Référence de l'Hypertension Pulmonaire Sévère, Hypertension arterielle pulmonaire physiopathologie et innovation thérapeutique, Centre chirurgical Marie Lannelongue-Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Paris-Sud - Paris 11 ( UP11 ), Lille Inflammation Research International Center ( LIRIC ), Institut Pasteur de Lille, Réseau International des Instituts Pasteur ( RIIP ) -Réseau International des Instituts Pasteur ( RIIP ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université de Lille-Centre Hospitalier Régional Universitaire [Lille] ( CHRU Lille ), CREAK Grenoble, Service de médecine interne [Lille], Service de médecine interne et centre de référence des maladies rares [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Cochin [AP-HP], Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Université Claude Bernard Lyon 1 (UCBL), Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Service de cardiologie [CHU Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de pneumologie [CHU Caen], Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN)-Tumorothèque de Caen Basse-Normandie (TCBN), Laboratoire Traitement du Signal et de l'Image (LTSI), Université de Rennes (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], Unité de Recherche sur les Maladies Infectieuses et Tropicales Emergentes (URMITE), Institut de Recherche pour le Développement (IRD)-Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR48, Institut des sciences biologiques (INSB-CNRS)-Institut des sciences biologiques (INSB-CNRS)-Centre National de la Recherche Scientifique (CNRS), Service de Pneumologie (NICE - Pneumo), Centre Hospitalier Universitaire de Nice (CHU Nice), Hôpital Européen Georges Pompidou [APHP] (HEGP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Département de Médecine Interne et Pneumologie [Brest] (DMIP - Brest), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Laboratory of Fundamental and Applied Bioenergetics = Laboratoire de bioénergétique fondamentale et appliquée (LBFA), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), European Institute for Systems Biology and Medicine (EISBM), Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Hospices Civils de Lyon (HCL), Service de Pneumologie et Réanimation Respiratoire (DHU TORINO), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre-Centre de Référence de l'Hypertension Pulmonaire Sévère, Centre Chirurgical Marie Lannelongue (CCML)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris-Sud - Paris 11 (UP11), Lille Inflammation Research International Center - U 995 (LIRIC), Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de référence des angiœdèmes à kinines (CREAK), CHU Grenoble-Université Grenoble Alpes [2016-2019] (UGA [2016-2019]), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Institut National de la Santé et de la Recherche Médicale (INSERM), INSB-INSB-Centre National de la Recherche Scientifique (CNRS), Centre chirurgical Marie Lannelongue-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Institut Pasteur de Lille, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Centre de référence des angioedèmes à kinines (CREAK), and Université Joseph Fourier - Grenoble 1 (UJF)-CHU Grenoble
Subjects: Adult, Male, Cardiac Catheterization, medicine.medical_specialty, Cardiac output, Pathology, Multivariate analysis, Hypertension, Pulmonary, Immunology, Hemodynamics, Walk Test, Systemic Sclerosis, 030204 cardiovascular system & hematology, General Biochemistry, Genetics and Molecular Biology, Autoimmune Diseases, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, [SDV.MHEP.MI]Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Internal medicine, Humans, Immunology and Allergy, Medicine, Prospective Studies, Cardiac Output, Prospective cohort study, Arterial Hypertension, Antihypertensive Agents, Associated Pulmonary Arterial Hypertension, Aged, 030203 arthritis & rheumatology, Scleroderma, Systemic, business.industry, Surrogate endpoint, Reproducibility of Results, Middle Aged, 3. Good health, Clinical trial, [ SDV.MHEP.MI ] Life Sciences [q-bio]/Human health and pathology/Infectious diseases, Outcomes research, Cohort, Cardiology, Female, France, business, Follow-Up Studies
Abstract: International audience; Objectives Despite the wide use of the 6 min walk distance (6MWD), no study has ever assessed its validity as a surrogate marker for haemodynamics and predictor of outcome in isolated pulmonary arterial hypertension associated with systemic sclerosis (SSc-PAH). We designed this work to address this issue. Methods Treatment-naive patients with SSc-PAH were prospectively included from two sources: the French PAH Network (a prospective epidemiological cohort) (n=83) and randomised clinical trials submitted for drug approval (Food and Drug Administration) (n=332). Correlations between absolute values of the 6MWD and haemodynamics at baseline, as well as between variations of 6MWD and haemodynamics during follow-up, were studied in both populations. Results In the French cohort, baseline cardiac output (CO) (R-2=0.19, p=0.001) and New York Heart Association class (R-2=0.10, pConclusions In SSc-PAH, CO independently correlates with 6MWD at baseline, but accounts for a small amount of the variance of 6MWD in both study samples. This suggests that other non-haemodynamic factors could have an impact on the walk distance. Moreover, variations of 6MWD do not reflect changes in haemodynamics among treated patients. Our results suggest that 6MWD is not an accurate surrogate marker for haemodynamic severity, nor an appropriate outcome measure to assess changes in haemodynamics during follow-up in treated SSc-PAH.
Published: 2016

48. Pregnancy outcomes in patients with pulmonary arterial hypertension associated with congenital heart disease

Author: Louise Benoit, Sébastien Hascoët, Charlene Bredy, Jacky Nizard, Claire Dauphin, Adeline Basquin, Magalie Ladouceur, Marielle Gouton, Jelena Radojevic, Laurence Iserin, and Pamela Moceri
Subjects: Adult, Heart Defects, Congenital, medicine.medical_specialty, Referral, Heart disease, Databases, Factual, Hypertension, Pulmonary, Pregnancy, High-Risk, Pregnancy Complications, Cardiovascular, Gestational Age, 030204 cardiovascular system & hematology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Pregnancy, Risk Factors, Internal medicine, Medicine, Humans, In patient, 030212 general & internal medicine, Oxygen saturation (medicine), Retrospective Studies, business.industry, Obstetrics, Cesarean Section, Pregnancy Outcome, medicine.disease, Abortion, Spontaneous, Maternal Mortality, Heart failure, Cohort, Infant, Small for Gestational Age, Cardiology, Gestation, Premature Birth, Female, Cardiology and Cardiovascular Medicine, business, Live Birth, Infant, Premature
Abstract: There is growing evidence that maternal mortality in pregnant women with pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is lower than that in available data. In order to evaluate this hypothesis, we collected data of pregnancies in women with PAH-CHD.Women with PAH-CHD followed in seven French referral centres were retrospectively included from 1997 to 2015. All pregnancies were recorded. We collected data on maternal, obstetrical and neonatal outcomes.28 pregnancies in 20 women (26±6 years old) with PAH-CHD were managed during this period. There were 18 complete pregnancies (≥20 weeks' gestation (WG)), 8 abortions and 2 miscarriages. Six (33%, 95% CI (11.9 to 54.3)) patients experienced severe cardiac events. The concerned women had lower resting oxygen saturation (79.6±4.1% vs 89.3±3.8%, p0.01). The most common cardiac complications during the complete pregnancies were heart failure (n=4) and severe hypoxaemia (n=5). Heart failure was overall severe, requiring inotropic treatment in three patients, mechanical circulatory support in one and led to one maternal death (mortality=5.0% 95% CI (0.1 to 24.9)). Obstetrical complications occurred in 25% of pregnancies. Small for gestational age was diagnosed in 39% (7/18) of fetuses. 12/18 (67%) pregnancies were delivered by caesarean section, of which 10 in emergency for obstetrical reason. Prematurity was frequent (78%), but no neonatal death occurred.Outcome of pregnancy in women with PAH-CHD is better than previously reported, with only 5% maternal mortality in our cohort. However, because of the severity of heart failure and the high rate of neonatal complications, patients should still be advised against pregnancy.
Published: 2016

49. Septal alcoholization in hypertrophic cardiomyopathy: about 11 cases

Author: Georges Rosario Christian Millogo, Jean-René Lusson, Claire Dauphin, Yibar Kambiré, Université Joseph Ki-Zerbo [Ouagadougou] (UJZK), Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Service de Cardiologie Maladies Vasculaires [CHU Clermont-Ferrand], Institut Pascal (IP), SIGMA Clermont (SIGMA Clermont)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Centre National de la Recherche Scientifique (CNRS), and SIGMA Clermont (SIGMA Clermont)-Centre National de la Recherche Scientifique (CNRS)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020])
Subjects: Male, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, Angina, Electrocardiography, 0302 clinical medicine, Hypertrophic obstructive cardiomyopathy, Heart Septum, Case Series, 030212 general & internal medicine, Stage (cooking), 10. No inequality, Aged, 80 and over, Medical record, Hypertrophic cardiomyopathy, General Medicine, Middle Aged, 3. Good health, Defibrillators, Implantable, Treatment Outcome, Cardiology, Catheter Ablation, Female, Hypertrophic obstructive cardiomyopathy, therapy, septal alcohol ablation, medicine.symptom, Adult, medicine.medical_specialty, Alcohol septal ablation, Ventricular outflow tract obstruction, septal alcohol ablation, Ventricular Outflow Obstruction, 03 medical and health sciences, Young Adult, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, medicine, Repolarization, Humans, cardiovascular diseases, Hospitals, Teaching, Aged, Retrospective Studies, therapy, Ethanol, business.industry, Cardiomyopathy, Hypertrophic, medicine.disease, Dyspnea, business, Follow-Up Studies
Abstract: Outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy are not enough studied in all centers. The purpose of this study was to determine the outcomes of septal alcoholization in hypertrophic obstructive cardiomyopathy in our hospital. A retrospective and prospective descriptive study focused on all patients aged at least 18 years treated by alcohol septal ablation between July 2005 and June 2010 in the cardiology unit of Clermont-Ferrand teaching Hospital. The inclusion criteria were, hypertrophic obstructive cardiomyopathy with left ventricular outflow tract obstruction ≥ 50 mmHg, symptomatic despite optimal medical therapy. The clinical, paraclinical data and the results of alcohol ablation were collected from medical records of patients and a telephone conversation with the patients or their physicians. These data were analyzed by EPI info 6.04. Eleven patients with average age of 56.27 ± 15, 83 were included of which 81.8% of men. The main indications of alcohol septal were dyspnea stage NYHA II-IV (45.5%), lipothymia (18.2%) and invalidating angina (18.2%). Main electrocardiographic abnormalities were left ventricular hypertrophy and disorders of repolarization with 72.7% each. Minor conductive disorders were found in 45.5% of the cases. The left ventricular outflow tract obstruction was 98.18 ± 25.93 mmHg before alcohol septal ablation and 18.91 ± 31.97 mmHg after a follow-up of 25.64 ± 21.97 months. The success rate was 81.8%. Conductive disorders (45.5%) required the establishment of a definitive pacemaker in 36.4% of the patients. A cardiac defibrillator was implanted at 27.3%. Septal alcoholization was succesful.Keywords: Hypertrophic obstructive cardiomyopathy, therapy, septal alcohol ablation
Published: 2016

50. A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

Author: Corinne Ducreux, Constance Beyler, Damien Bonnet, Marilyne Lévy, Claire Dauphin, Bérénice Doray, Alice Maltret, Michel Teboul, Philippe Acar, François Heitz, Marie-Pierre Cordier-Alex, Christel Thauvin, Jean-René Lusson, Damien Sanlaville, Rajae El Malti, Joelle Roume, Jacqueline Vigneron, Miguel Gonçalves-Rocha, Patricia Blanchet, Magali Veyrier, Patrice Bouvagnet, Céline Gronier, Hui Liu, François Marçon, Laboratoire Cardiogénétique, Centre de Biologie et pathologie Est, Laboratoire de Simulation du Comportement des Combustibles (LSC), Service d'Etudes de Simulation du Comportement du combustibles (SESC), Département d'Etudes des Combustibles (DEC), CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-CEA-Direction des Energies (ex-Direction de l'Energie Nucléaire) (CEA-DES (ex-DEN)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Département d'Etudes des Combustibles (DEC), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Génétique des Anomalies du Développement (GAD), Université de Bourgogne (UB)-IFR100 - Structure fédérative de recherche Santé-STIC, Service de génétique, CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon)-Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de Médecine Interne [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (1965 - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), Service de Génétique, Hôpital Poissy-saint Germain, Service de Cardiologie Infantile [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), CHU Clermont-Ferrand, Hôpital Robert Debré Paris, Hôpital Robert Debré, Institut Lavoisier de Versailles (ILV), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS), Hospices Civils de Lyon (HCL), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie (ICube), École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Université de Strasbourg (UNISTRA)-Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Institut National de Recherche en Informatique et en Automatique (Inria)-Les Hôpitaux Universitaires de Strasbourg (HUS)-Centre National de la Recherche Scientifique (CNRS)-Matériaux et Nanosciences Grand-Est (MNGE), Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut de Chimie du CNRS (INC)-Centre National de la Recherche Scientifique (CNRS)-Réseau nanophotonique et optique, Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon, Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Côte d'Azur (UCA)-Centre National de la Recherche Scientifique (CNRS), Institut National des Sciences Appliquées - Strasbourg (INSA Strasbourg), Institut National des Sciences Appliquées (INSA)-Institut National des Sciences Appliquées (INSA)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg (ENGEES)-Réseau nanophotonique et optique, Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Mécanique et d'Acoustique [Marseille] ( LMA ), Aix Marseille Université ( AMU ) -Ecole Centrale de Marseille ( ECM ) -Centre National de la Recherche Scientifique ( CNRS ), Laboratoire de Simulation du Comportement des Combustibles ( LSC ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Génétique des Anomalies du Développement ( GAD ), Université de Bourgogne ( UB ) -IFR100 - Structure fédérative de recherche Santé-STIC, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ) -Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Assistance publique - Hôpitaux de Paris (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Service de médecine interne, hôpital Gabriel-Montpied, Institut de Biologie Valrose ( IBV ), Université Nice Sophia Antipolis ( UNS ), Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Institut de recherche, santé, environnement et travail ( Irset ), Université d'Angers ( UA ) -Université de Rennes 1 ( UR1 ), Université de Rennes ( UNIV-RENNES ) -Université de Rennes ( UNIV-RENNES ) -École des Hautes Études en Santé Publique [EHESP] ( EHESP ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ) -Université des Antilles ( UA ), Centre Hospitalier Régional Universitaire de Nancy ( CHRU Nancy ), CHU Gabriel Montpied ( CHU ), Institut Lavoisier de Versailles ( ILV ), Université de Versailles Saint-Quentin-en-Yvelines ( UVSQ ) -Centre National de la Recherche Scientifique ( CNRS ), Hospices Civils de Lyon ( HCL ), Laboratoire des sciences de l'ingénieur, de l'informatique et de l'imagerie ( ICube ), Institut National des Sciences Appliquées - Strasbourg ( INSA Strasbourg ), Institut National des Sciences Appliquées ( INSA ) -Institut National des Sciences Appliquées ( INSA ) -Université de Strasbourg ( UNISTRA ) -Centre National de la Recherche Scientifique ( CNRS ) -École Nationale du Génie de l'Eau et de l'Environnement de Strasbourg ( ENGEES ) -Réseau nanophotonique et optique, Université de Strasbourg ( UNISTRA ) -Université de Haute-Alsace (UHA) Mulhouse - Colmar ( Université de Haute-Alsace (UHA) ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Strasbourg ( UNISTRA ) -Université de Haute-Alsace (UHA) Mulhouse - Colmar ( Université de Haute-Alsace (UHA) ) -Centre National de la Recherche Scientifique ( CNRS ) -Matériaux et nanosciences d'Alsace, Université de Strasbourg ( UNISTRA ) -Université de Haute-Alsace (UHA) Mulhouse - Colmar ( Université de Haute-Alsace (UHA) ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ) -Université de Strasbourg ( UNISTRA ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ), Université Claude Bernard Lyon 1 ( UCBL ), Centre de recherche en neurosciences de Lyon ( CRNL ), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] ( UJM ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Centre National de la Recherche Scientifique ( CNRS ), Service d'Etudes de Simulation du Comportement du combustibles ( SESC ), Département d'Etudes des Combustibles ( DEC ), CEA-Direction de l'Energie Nucléaire ( CEA-DEN ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -CEA-Direction de l'Energie Nucléaire ( CEA-DEN ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Département d'Etudes des Combustibles ( DEC ), Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ) -Commissariat à l'énergie atomique et aux énergies alternatives ( CEA ), Centre National de la Recherche Scientifique ( CNRS ) -Institut National de la Santé et de la Recherche Médicale ( INSERM ) -Université Nice Sophia Antipolis ( UNS ), and Université Côte d'Azur ( UCA ) -Université Côte d'Azur ( UCA )
Subjects: 0301 basic medicine, Proband, Male, Cardiomyopathy, 22q11.2, Disease, 030204 cardiovascular system & hematology, Bioinformatics, 0302 clinical medicine, de-novo, Epidemiology, 3 large registries, Genetics (clinical), zic3 mutations, Genetics, High-Throughput Nucleotide Sequencing, 3. Good health, Pedigree, Homeobox Protein Nkx-2.5, malformations, Female, epidemiology, Heart Defects, Congenital, medicine.medical_specialty, Genetic counseling, Article, 03 medical and health sciences, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Molecular genetics, medicine, Humans, Multiplex ligation-dependent probe amplification, Genetic Testing, Homeodomain Proteins, disease, business.industry, variability, Genetic Variation, medicine.disease, GATA4 Transcription Factor, 030104 developmental biology, Mutation, Etiology, cardiovascular defects, business, Multiplex Polymerase Chain Reaction, cardiomyopathy, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Transcription Factors
Abstract: International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 x), NKX2-5 (6 x), ZIC3 (3 x), MLPA (2 x) and ELN (4 x). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era.
Published: 2016

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