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5 results on '"Céline Gronier"'

1. 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

2. Cardiovascular events in perimembranous ventricular septal defect with left ventricular volume overload: a French prospective cohort study (FRANCISCO)

Author

Damien Bonnet, Ali Houeijeh, Gilles Bosser, Clément Karsenty, Pamela Moceri, Pauline Helms, Lisa Guirgis, Elise Barre, Quentin Hauet, Sébastien Hascoët, Khaled Hadeed, Virginie Lambert, Xavier Iriart, Nicolas Pangaud, Bérangère Urbina-Hiel, Meriem Mostefa-Kara, Charlotte Denis, Eric Hery, Zakaria Jalal, Nadir Benbrik, Pierre Mauran, Pascale Maragnes, Hugues Lucron, Pascal Amedro, Céline Gronier, Francisco investigators, Magalie Ladouceur, Stéphanie Douchin, François Godart, Bruno Lefort, Karine Warin Fresse, Jean Benoit Thambo, Maurice Guirgis, Diala Khraiche, Adeline Basquin, Daniela Laux, Ronan Bonefoy, Estibaliz Valdeolmillos, Ivan Bouzguenda, Caroline Ovaert, Antoine Legendre, Laurence Iserin, Samir Harchaoui, Laurence Cohen, Jean Marc Lupoglazoff, Bertrand Leobon, Anne-Sophie Leborgne, Carine Vastel, Aurélie Chalard, Nicolas Combes, Alban-Elouen Baruteau, Hélène Ansquer, Guy Vaksmann, Lucile Houyel, Claire Bertail, 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), and Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier)

Subjects
Heart Septal Defects, Ventricular, Cardiac Catheterization, medicine.medical_specialty, Septal Occluder Device, Heart Ventricles, medicine.medical_treatment, [SDV]Life Sciences [q-bio], Volume overload, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Ventricular outflow tract, Prospective Studies, 030212 general & internal medicine, Child, Prospective cohort study, Stroke, Heart Failure, business.industry, General Medicine, medicine.disease, Haemolysis, 3. Good health, Observational Studies as Topic, Treatment Outcome, Child, Preschool, Heart failure, Pediatrics, Perinatology and Child Health, Cardiology, Cardiology and Cardiovascular Medicine, business, Watchful waiting, Cohort study
Abstract

The long-term prospective multi-centre nationwide (French) observational study FRANCISCO will provide new information on perimembranous ventricular septal defect with left ventricular overload but no pulmonary hypertension in children older than 1 year. Outcomes will be compared according to treatment strategy (watchful waiting, surgical closure, or percutaneous closure) and anatomic features of the defect. The results are expected to provide additional guidance about the optimal treatment of this specific population, which is unclear at present. Background The management of paediatric isolated perimembranous ventricular septal defect (pmVSD) with left ventricle (LV) volume overload but no pulmonary arterial hypertension (PAH) remains controversial. Three therapeutic approaches are considered: watchful waiting, surgical closure, and percutaneous closure. We aim to investigate the long-term outcomes of these patients according to anatomic pmVSD characteristics and treatment strategy. Methods The Filiale de Cardiologie Pediatrique et Congenitale (FCPC) designed the FRANCISCO registry, a long-term prospective nationwide multi-centre observational cohort study sponsored by the French Society of Cardiology, which enrolled, over 2 years (2018–2020), patients older than 1 year who had isolated pmVSD with LV volume overload. Prevalent complications related to pmVSD at baseline were exclusion criteria. Clinical, echocardiographic, and functional data will be collected at inclusion then after 1, 5, and 10 years. A core lab will analyse all baseline echocardiographic data to depict anatomical pmVSD features. The primary outcome is the 5-year incidence of cardiovascular events (infective endocarditis, sub-aortic stenosis, aortic regurgitation, right ventricular outflow tract stenosis, tricuspid regurgitation, PAH, arrhythmia, stroke, haemolysis, heart failure, or death from a cardiovascular event). We plan to enrol 200 patients, given the 10% estimated 5-year incidence of cardiovascular events with a 95% confidence interval of ±5%. Associations linking anatomical pmVSD features and treatment strategy to the incidence of complications will be assessed. Conclusions The FRANSCICO study will provide the long-term incidence of complications in patients older than 1 year with pmVSD and LV volume overload. The results are expected to improve guidance for treatment decisions.

Published
2021

3. Position paper concerning the competence, performance and environment required for the practice of ablation in children and in congenital heart disease

Author

Jérôme Lacotte, Fanny Bajolle, Karine Warin-Fresse, Nicolas Combes, Olivier Piot, Magalie Ladouceur, Jérôme Taieb, Guillaume Duthoit, Philippe Acar, Frederic Anselm, Jacques Mansourati, Jean Benoit Thambo, Daniel Gras, Clément Karsenty, Sylvie Di Filippo, Estelle Gandjbakhch, Serge Boveda, Pascal Defaye, Frederic Sacher, Pierre Bordachar, Pascal Amedro, Céline Gronier, Eloi Marijon, Emre Belli, Gabriel Laurent, Linda Koutbi, Alice Maltret, Adeline Basquin, Victor Waldmann, Nicolas Derval, Didier Klug, Daniela Laux, Sébastien Hascoët, Philippe Maury, Caroline Ovaert, Nicolas Sadoul, Laurent Fauchier, Clinical sciences, Service Cardiologie [CHU Toulouse], Pôle Cardiovasculaire et Métabolique [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Hôpital Haut-Lévêque [CHU Bordeaux], CHU Bordeaux [Bordeaux], Centre de Référence Maladies Cardiaques Héréditaires, CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Clinique Pasteur [Toulouse], Hôpital Marie-Lannelongue, IHU-LIRYC, Université Bordeaux Segalen - Bordeaux 2-CHU Bordeaux [Bordeaux], 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), 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 Paris Cité (UPCité), Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), 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)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), CHU Rouen, Normandie Université (NU), Service de cardiologie et maladies vasculaires [Rennes] = Cardiac, Thoracic, and Vascular Surgery [Rennes], CHU Pontchaillou [Rennes], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hôpital Louis Pradel [CHU - HCL], Hospices Civils de Lyon (HCL), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Nouvelles Cliniques Nantaises - NCN [Nantes], Clinique De L' Orangerie - ELSAN [Strasbourg] (CDOS), CHU Lille, Hôpital de la Timone [CHU - APHM] (TIMONE), 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), Hôpital Privé Jacques Cartier [Massy], Institut Cardiovasculaire Paris Sud [Massy] (ICPS), CHU Dijon, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre Hospitalier d'Aix en Provence [Aix-en-Provence] (CHIAP ), Centre hospitalier universitaire de Nantes (CHU Nantes), CHU Grenoble, Centre cardiologique du Nord (CCN), CHU Toulouse [Toulouse], CHU Pessac, Service de cardiologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Congenital Heart Disease Service, Marie Lannelongue Hospital, 92350 Le Plessis-Robinson, France., Department of Cardiology, Georges Pompidou European Hospital and Necker-Enfants Malades Hospital, AP-HP, Adult Congenital Heart Disease Unit, Centre de Référence des Malformations Cardiaques Congénitales Complexes (M3C), 75015 Paris, France, Inserm U970, PARCC, 75015 Paris, France., Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Service de cardiologie [CHU Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Paediatric Cardiology Department, AP-HP, Necker-Enfants malades, M3C National Reference Centre, Paris Descartes University, Sorbonne Paris Cite, Paris, France, Pôle des Cardiopathies Congénitales, Marie Lannelongue Hospital, 92350 Le Plessis-Robinson, Institut de cardiologie [CHU Pitié-Salpêtrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de Cardiologie [CHU Pitié-Salpêtrière], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Sorbonne Université - Faculté de Médecine (SU FM), Sorbonne Université (SU), Service de Cardiologie Pédiatrique, Hospices Civils de Lyon (HCL)-Hôpital Louis Pradel [CHU - HCL], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Cardiopathies et mort subite [ERL 3147], Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Nantes (UN), Cabinet de Cardiologie Foetale Pediatrique et Congenitale Adulte et Groupement d'Exploration Radiologique et Cardiovasculaire, Clinique de l'Orangerie, 67000 Strasbourg, Service de Cardiologie A, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Département de Cardiologie [Hôpital de la Timone - APHM], Hôpital de la Timone [CHU - APHM] (TIMONE)-Assistance Publique - Hôpitaux de Marseille (APHM), Institut Cardiovasculaire Paris Sud, Jacques Cartier Private Hospital, 91300 Massy, Service de Cardiologie [CHU de Dijon], Centre chirurgical Marie Lannelongue, Optimisation des régulations physiologiques (ORPHY (EA 4324)), Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO), Service de Cardiologie [CHRU Nancy], Centre Hospitalier du Pays d'Aix, Department of Cardiology, Brest University Hospital, 29200 Brest, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Cardiac Stimulation and Rhythmology, Clinique Pasteur et Groupe Rythmologie Stimulation Cardiaque/SFC, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Université de Nantes (UN)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Chirurgical Marie Lannelongue (CCML), Unité de recherche de l'institut du thorax (ITX-lab), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR de Médecine et des Techniques Médicales (UFR MEDECINE), Université de Nantes (UN)-Université de Nantes (UN), CHU Bordeaux [Bordeaux]-Université Bordeaux Segalen - Bordeaux 2, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-CHU Rouen, 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], Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université, Sorbonne Université-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-Université de Brest (UBO)-Centre Hospitalier Régional Universitaire de Brest (CHRU Brest), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU)

Subjects
Heart disease, medicine.medical_treatment, [SDV]Life Sciences [q-bio], 030204 cardiovascular system & hematology, Cryosurgery, 0302 clinical medicine, Cardiologists, heart rate, risk factors, 030212 general & internal medicine, Child, ComputingMilieux_MISCELLANEOUS, education.field_of_study, Cardiac electrophysiology, Paediatric cardiology, Age Factors, Arrhythmias, Cardiac/diagnosis, Cardiology Service, Hospital/standards, survivors, General Medicine, 3. Good health, Cardiac Surgical Procedures/adverse effects, Catheter, Treatment Outcome, Catheter Ablation, Electrophysiologic Techniques, Cardiac/standards, young adult, Cardiology Service, Hospital, Clinical Competence, Electrophysiologic Techniques, Cardiac, Cardiology and Cardiovascular Medicine, Heart Defects, Congenital, Adult, medicine.medical_specialty, Consensus, Adolescent, Child, preschool, Population, Catheter Ablation/adverse effects, Catheter ablation, Ablation procedures, Clinical Competence/standards, Competence (law), 03 medical and health sciences, Cardiologists/standards, Intensive care, medicine, Humans, cardiovascular diseases, Cardiac Surgical Procedures, education, Intensive care medicine, Congenital heart disease, Cryosurgery/adverse effects, Heart Defects, Congenital/diagnostic imaging, business.industry, Infant, Newborn, Infant, Arrhythmias, Cardiac, medicine.disease, Position paper, business
Abstract

International audience; The population of patients with congenital heart disease (CHD) is continuously increasing, and a significant proportion of these patients will experience arrhythmias because of the underlying congenital heart defect itself or as a consequence of interventional or surgical treatment. Arrhythmias are a leading cause of mortality, morbidity and impaired quality of life in adults with CHD. Arrhythmias may also occur in children with or without CHD. In light of the unique issues, challenges and considerations involved in managing arrhythmias in this growing, ageing and heterogeneous patient population and in children, it appears both timely and essential to critically appraise and synthesize optimal treatment strategies. The introduction of catheter ablation techniques has greatly improved the treatment of cardiac arrhythmias. However, catheter ablation in adults or children with CHD and in children without CHD is more technically demanding, potentially causing various complications, and thus requires a high level of expertise to maximize success rates and minimize complication rates. As French recommendations regarding required technical competence and equipment are lacking in this situation, the Working Group of Pacing and Electrophysiology of the French Society of Cardiology and the Affiliate Group of Paediatric and Adult Congenital Cardiology have decided to produce a common position paper compiled from expert opinions from cardiac electrophysiology and paediatric cardiology. The paper details the features of an interventional cardiac electrophysiology centre that are required for ablation procedures in adults with CHD and in children, the importance of being able to diagnose, monitor and manage complications associated with ablations in these patients and the supplemental hospital-based resources required, such as anaesthesia, surgical back-up, intensive care, haemodynamic assistance and imaging. Lastly, the need for quality evaluations and French registries of ablations in these populations is discussed. The purpose of this consensus statement is therefore to define optimal conditions for the delivery of invasive care regarding ablation of arrhythmias in adults with CHD and in children, and to provide expert and - when possible - evidence-based recommendations on best practice for catheter-based ablation procedures in these specific populations.

Published
2020

4. 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

5. 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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