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1. Hypertension healthcare professional beliefs and behaviour regarding patient medication adherence

Author

Pankaj Gupta, Alexandre Persu, Reinhold Kreutz, Aleksander Prejbisz, Jorie Versmissen, Andrzej Januszewicz, Jan Václavík, Michel Burnier, Vitoria Cunha, Thomas Weber, Michel Azizi, Internal Medicine, Pharmacy, Lausanne University Hospital, National Institute of Cardiology [Varsovie, Pologne], Klinikum Wels Grieskirchen, CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (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)-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), CArdiovasculaire Rénal Transplantation nEurovasculaire [Paris] (DMU CARTE), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Hospital Garcia de Orta (EPE), Erasmus University Medical Center [Rotterdam] (Erasmus MC), Leicester Royal Infirmary, University Hospitals Leicester, University Hospital Ostrava, Ostravská univerzita / University of Ostrava, Cliniques Universitaires Saint-Luc [Bruxelles], Université Catholique de Louvain = Catholic University of Louvain (UCL), Humboldt University Of Berlin, Working Group on Cardiovascular Therapy and Adherence of the European Society of Hypertension, HULOT, Jean-Sébastien, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, and UCL - (SLuc) Service de cardiologie

Subjects
Male, medicine.medical_specialty, hypertension, media_common.quotation_subject, [SDV]Life Sciences [q-bio], education, Medication adherence, Medication Adherence, pharmacotherapy, Pharmacotherapy, Excellence, Physicians, Surveys and Questionnaires, Internal Medicine, medicine, Humans, Blood pressure monitoring, survey, media_common, Health professionals, business.industry, chemical detection, Hypertension management, General Medicine, healthcare professionals, University hospital, [SDV] Life Sciences [q-bio], Cross-Sectional Studies, Adherence, Family medicine, Assessment methods, Hypertension, beliefs, Female, Cardiology and Cardiovascular Medicine, business
Abstract

Purpose Little is known on the beliefs, perceptions and practices of hypertension specialists in addressing non-adherence to therapy. Therefore, a survey was undertaken amongst healthcare professionals (HCPs) managing hypertension in the European Society of Hypertension (ESH) Centres of Excellence. Materials and methods Cross-sectional data were obtained between December 2020 and April 2021 using an online anonymous structured questionnaire including 26 questions/136 items, that was sent to all ESH Excellence centres. Results Overall 67 from 187 centres (37.3%) responded and 200 HCPs from 30 countries answered the questionnaire. Participants (60% men) were mainly physicians (91%) and nurses (8%) from University hospitals (77%). Among physicians, 83% had >10 years professional experience. Average time dedicated to discuss medications was 1-5 min in 48% and 6-10 min in 29% of cases. Interviews with patients about adherence were the most frequently used assessment method. Chemical detection of medications in urine was available in 36% of centres. One third of physicians involved their patients regularly in treatment decisions. The most frequent methods to improve adherence included simplification of medication therapy, more frequent visits, and home blood pressure monitoring. Conclusions: The level of implementation of tools to detect and improve adherence in hypertension management in ESH excellence centres is low. Structured educational activities and access to the newest objective measures to detect non-adherence might improve these deficits. Conclusions The level of implementation of tools to detect and improve adherence in hypertension management by HCPs in ESH excellence centres is low. Structured educational activities focussing on adherence management and access to the newest objective measures to detect non-adherence might improve these deficits.

Published
2021
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2. Targeted Metabolomics as a Tool in Discriminating Endocrine From Primary Hypertension

Author

Parminder Singh Reel, Anne Blanchard, Casper K Larsen, Paolo Mulatero, Guillaume Assié, Michael Conall Dennedy, Smarti Reel, Zoran Erlic, Cornelia Prehn, Martin Reincke, Anne-Paule Gimenez-Roqueplo, Alessio Pecori, Katharina Langton, Jaap Deinum, Jerzy Adamski, Christina Pamporaki, Felix Beuschlein, Maria-Christina Zennaro, Filippo Ceccato, Livia Lenzini, Laurence Amar, Martina Tetti, Matthias Kroiss, Carla Scaroni, Aleksander Prejbisz, Emily Jefferson, University of Zurich, Beuschlein, Felix, Universitätsspital Zürich (USZ), University of Dundee, Paris-Centre de Recherche Cardiovasculaire (PARCC (UMR_S 970/ 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)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Università degli studi di Torino = University of Turin (UNITO), University Hospital Carl Gustav Carus [Dresden, Germany], Technische Universität Dresden = Dresden University of Technology (TU Dresden), Helmholtz Zentrum München = German Research Center for Environmental Health, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), National University of Singapore (NUS), National Institute of Cardiology [Varsovie, Pologne], Azienda Ospedale Università di Padova = Hospital-University of Padua (AOUP), Universitätsklinikum Würzburg, University of Würzburg = Universität Würzburg, Ludwig-Maximilians-Universität München (LMU), National University of Ireland [Galway] (NUI Galway), Radboud University Medical Center [Nijmegen], Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (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)-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), and HULOT, Jean-Sébastien

Subjects
Oncology, Male, 1303 Biochemistry, Endocrinology, Diabetes and Metabolism, [SDV]Life Sciences [q-bio], Clinical Biochemistry, Vascular damage Radboud Institute for Health Sciences [Radboudumc 16], 10265 Clinic for Endocrinology and Diabetology, Adrenal Gland Neoplasms, 030204 cardiovascular system & hematology, 1308 Clinical Biochemistry, Biochemistry, Cushing syndrome, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Primary aldosteronism, targeted metabolomics, arterial hypertension, pheochromocytoma, primary aldosteronism, screening, Area under the curve, Ornithine, Middle Aged, Hyperaldosteronism, ddc, 3. Good health, 1310 Endocrinology, [SDV] Life Sciences [q-bio], Europe, 2712 Endocrinology, Diabetes and Metabolism, Hypertension, Cushing Syndrome, Arterial Hypertension, Pheochromocytoma, Primary Aldosteronism, Screening, Targeted Metabolomics, Female, Essential Hypertension, AcademicSubjects/MED00250, Adult, medicine.medical_specialty, Context (language use), 030209 endocrinology & metabolism, 610 Medicine & health, 2704 Biochemistry (medical), Endocrine System Diseases, Diagnosis, Differential, Diagnostic Techniques, Endocrine, Paraganglioma, 03 medical and health sciences, Internal medicine, medicine, Endocrine system, Humans, Metabolomics, Clinical Research Articles, Aged, Retrospective Studies, Receiver operating characteristic, business.industry, Biochemistry (medical), medicine.disease, chemistry, business
Abstract

ContextIdentification of patients with endocrine forms of hypertension (EHT) (primary hyperaldosteronism [PA], pheochromocytoma/paraganglioma [PPGL], and Cushing syndrome [CS]) provides the basis to implement individualized therapeutic strategies. Targeted metabolomics (TM) have revealed promising results in profiling cardiovascular diseases and endocrine conditions associated with hypertension.ObjectiveUse TM to identify distinct metabolic patterns between primary hypertension (PHT) and EHT and test its discriminating ability.MethodsRetrospective analyses of PHT and EHT patients from a European multicenter study (ENSAT-HT). TM was performed on stored blood samples using liquid chromatography mass spectrometry. To identify discriminating metabolites a “classical approach” (CA) (performing a series of univariate and multivariate analyses) and a “machine learning approach” (MLA) (using random forest) were used.The study included 282 adult patients (52% female; mean age 49 years) with proven PHT (n = 59) and EHT (n = 223 with 40 CS, 107 PA, and 76 PPGL), respectively.ResultsFrom 155 metabolites eligible for statistical analyses, 31 were identified discriminating between PHT and EHT using the CA and 27 using the MLA, of which 16 metabolites (C9, C16, C16:1, C18:1, C18:2, arginine, aspartate, glutamate, ornithine, spermidine, lysoPCaC16:0, lysoPCaC20:4, lysoPCaC24:0, PCaeC42:0, SM C18:1, SM C20:2) were found by both approaches. The receiver operating characteristic curve built on the top 15 metabolites from the CA provided an area under the curve (AUC) of 0.86, which was similar to the performance of the 15 metabolites from MLA (AUC 0.83).ConclusionTM identifies distinct metabolic pattern between PHT and EHT providing promising discriminating performance.

Published
2021
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3. Beyond Atherosclerosis and Fibromuscular Dysplasia

Author

Laurence Amar, Jacek Kądziela, Constantina Chrysochou, Magda Januszewicz, Peter W. de Leeuw, Mieczysław Litwin, Alexandre Persu, Grégoire Wuerzner, Michel Azizi, Andrzej Januszewicz, Aleksander Prejbisz, Piotr Dobrowolski, Caitriona Canning, Patricia Van der Niepen, Daan J.L. van Twist, Clinical sciences, Clinical Pharmacology and Clinical Pharmacy, Nephrology, Université Catholique de Louvain = Catholic University of Louvain (UCL), St James's University Hospital, Leeds Teaching Hospitals NHS Trust, National Institute of Cardiology [Varsovie, Pologne], CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (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)-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), 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), CArdiovasculaire Rénal Transplantation nEurovasculaire [Paris] (DMU CARTE), 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), Salford Royal NHS Foundation Trust [Salford, UK], Children’s Memorial Health Institute [Warsaw, Poland] (CMHI), Zuyderland Hospital [Heerlen, The Netherlands], Vrije Universiteit Brussel (VUB), Université de Lausanne = University of Lausanne (UNIL), Maastricht University [Maastricht], Maastricht University Medical Centre (MUMC), Medical University of Warsaw - Poland, HULOT, Jean-Sébastien, UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, and UCL - (SLuc) Service de cardiologie

Subjects
CONTEMPORARY MANAGEMENT, [SDV]Life Sciences [q-bio], Secondary hypertension, Fibromuscular dysplasia, Renal artery stenosis, Renovascular hypertension, RETROSPECTIVE ANALYSIS, renovascular, Fibromuscular Dysplasia, arteriovenous fistula, Aortic dissection, ARTERIOVENOUS-FISTULA, [SDV] Life Sciences [q-bio], Alagille Syndrome, Hypertension, Renovascular, dissection, CARDIOVASCULAR-DISEASE, Nephrology, Cardiology, CLINICAL SPECTRUM, medicine.medical_specialty, Neurofibromatosis 1, hypertension, Reviews, Arteriovenous fistula, Renal Artery Obstruction, ANEURYSM, Aneurysm, Dissecting, medicine.artery, Internal medicine, Internal Medicine, medicine, Humans, ANEURYSMS, Arteritis, Renal artery, ALAGILLE-SYNDROME, neurofibromatosis, RENAL-ARTERY STENOSIS, business.industry, Atherosclerosis, medicine.disease, Takayasu Arteritis, THROMBOSIS, Aortic Dissection, aneurysm, business
Abstract

International audience; Renovascular hypertension is one of the most common forms of secondary hypertension. Over 95% of cases of renovascular hypertension are due either to atherosclerosis of the main renal artery trunks or to fibromuscular dysplasia. These two causes of renal artery stenosis have been extensively discussed in recent reviews and consensus. The aim of the current article is to provide comprehensive and up-to-date information on the remaining causes. While these causes are rare or extremely rare, etiologic and differential diagnosis matters both for prognosis and management. Therefore, the clinician cannot ignore them. For didactic reasons, we have grouped these different entities into stenotic lesions (neurofibromatosis type 1 and other rare syndromes, dissection, arteritis, and segmental arterial mediolysis) often associated with aortic coarctation and other arterial abnormalities, and nonstenotic lesions, where hypertension is secondary to compression of adjacent arteries and changes in arterial pulsatility (aneurysm) or to the formation of a shunt, leading to kidney ischemia (arteriovenous fistula). Finally, thrombotic disorders of the renal artery may also be responsible for renovascular hypertension. Although thrombotic/embolic lesions do not represent primary vessel wall disease, they are characterized by frequent macrovascular involvement. In this review, we illustrate the most characteristic aspects of these different entities responsible for renovascular hypertension and discuss their prevalence, pathophysiology, clinical presentation, management, and prognosis.

Published
2021
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4. Management of antithrombotic therapy in patients undergoing transcatheter aortic valve implantation: a consensus document of the ESC Working Group on Thrombosis and the European Association of Percutaneous Cardiovascular Interventions (EAPCI), in collaboration with the ESC Council on Valvular Heart Disease

Author

Diana A. Gorog, Erik Lerkevang Grove, Dariusz Dudek, Andrea Rubboli, Julinda Mehilli, Jurriën M. ten Berg, Gemma Vilahur, Julia Grapsa, Lucia Torracca, Bianca Rocca, Adam Witkowski, Anna Sonia Petronio, Eric Van Belle, Patrizio Lancellotti, Jean-Philippe Collet, Dirk Sibbing, Martine Gilard, Bernard Chevalier, Cardiologie, RS: Carim - B04 Clinical thrombosis and Haemostasis, St. Antonius Hospital [Nieuwegein], Ludwig-Maximilians-Universität München [LMU], German Center for Cardiovascular Research [DZHK], Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] [Unicatt], Institut Coeur Poumon [CHU Lille], Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires [RNMCD - U1011], Hôpital Privé Jacques Cartier [Massy], CHU Pitié-Salpêtrière [AP-HP], Groupe Action, Hôpital de la Cavale Blanche, Université de Brest [UBO], Imperial College London, University of Hertfordshire [Hatfield] [UH], Aarhus University Hospital, Centre Hospitalier Universitaire de Liège [CHU-Liège], University of Pisa - Università di Pisa, Hospital de la Santa Creu i Sant Pau, Cardiovascular Research Institute Maastricht (CARIM), Maastricht University [Maastricht], Ludwig-Maximilians-Universität München (LMU), German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), CHU Lille, Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Récepteurs Nucléaires, Maladies Métaboliques et Cardiovasculaires - U1011 (RNMCD), 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), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de cardiologie [CHU Pitié-Salpêtrière], 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Jagiellonian University - Medical College (JUMC), Uniwersytet Jagielloński w Krakowie = Jagiellonian University (UJ), Maria Cecilia Hospital [Cotignola], Université de Brest (UBO), University of Hertfordshire [Hatfield] (UH), Guy's and St Thomas' NHS Foundation Trust [London, UK], Centre Hospitalier Universitaire de Liège (CHU-Liège), and National Institute of Cardiology [Varsovie, Pologne]

Subjects
medicine.medical_specialty, Percutaneous, Consensus, Settore BIO/14 - FARMACOLOGIA, [SDV]Life Sciences [q-bio], Heart Valve Diseases, 030204 cardiovascular system & hematology, Lower risk, law.invention, Transcatheter Aortic Valve Replacement, 03 medical and health sciences, 0302 clinical medicine, Antithrombotic treatment, Transcatheter aortic valve implantation, Aged, Aortic Valve, Fibrinolytic Agents, Humans, Treatment Outcome, Aortic Valve Stenosis, Heart Valve Prosthesis Implantation, Thrombosis, Randomized controlled trial, law, Internal medicine, Antithrombotic, medicine, 030212 general & internal medicine, Adverse effect, Aortic Valve/surgery, ANTIPLATELET THERAPY, business.industry, Fibrinolytic Agents/therapeutic use, valvular heart disease, Thrombosis/drug therapy, medicine.disease, Stenosis, Aortic Valve Stenosis/drug therapy, Transcatheter Aortic Valve Replacement/adverse effects, Cardiology, Cardiology and Cardiovascular Medicine, business
Abstract

Transcatheter aortic valve implantation (TAVI) is effective in older patients with symptomatic severe aortic stenosis, while the indication has recently broadened to younger patients at lower risk. Although thromboembolic and bleeding complications after TAVI have decreased over time, such adverse events are still common. The recommendations of the latest 2017 ESC/EACTS Guidelines for the management of valvular heart disease on antithrombotic therapy in patients undergoing TAVI are mostly based on expert opinion. Based on recent studies and randomized controlled trials, this viewpoint document provides updated therapeutic insights in antithrombotic treatment during and after TAVI.

Published
2021
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5. Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23

Author

Magdalena Harakalova, Benjamin Meder, Philippe Charron, Manuel Gómez-Bueno, Jorg J. A. Calis, François Cambien, David-Alexandre Trégouët, Maurizia Grasso, Steven McGinn, Uwe Völker, Thomas Meitinger, Stefan Weiss, L. Duboscq-Bidot, Richard Dorent, Vera Regitz-Zagrosek, Folkert W. Asselbergs, Hélène Blanché, Olivier Dubourg, Patrick Lacolley, Pierre Boutouyrie, Delphine Bacq-Daian, Vincent Fontaine, Volker Ruppert, Marine Germain, K Lehnert, Jean-Noël Trochu, Stuart A. Cook, Angélique Curjol, Brendan J. Keating, Ibticem Raji, Anne Boland, J. Erdmann, Michael Morley, Jean-François Aupetit, Paloma Remior, Luigi Tavazzi, Gérard Roizès, Michal Mokry, Konstantin Strauch, Richard Isnard, Jean-Philippe Empana, Robert Olaso, Kenneth B. Marguiles, Zofia T. Bilińska, Stephan B. Felix, Marcus Dörr, Thomas P. Cappola, Stefan Blankenberg, Jan Haas, Céline Besse, Jean-François Deleuze, Christine E. Seidman, Christian Hengstenberg, Jessica van Setten, Hakon Hakonarson, Sanjay K Prasad, Daiane Hemerich, Pascal de Groote, Thomas Wichter, Alain van Mil, Michel Komajda, Renee Maas, Carole Proust, Declan P. O'Regan, Xavier Jouven, Ganapathi Varma Saripella, Georgios Kararigas, Eloisa Arbustini, Jin Li, Klaus Stark, Laurent Fauchier, Flavie Ader, Melanie Waldenberger, Martina Müller-Nurasyid, Eric Villard, Sophie Garnier, Cardiology, Imperial College Healthcare NHS Trust- BRC Funding, British Heart Foundation, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Service de Cardiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], 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 Tenon [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Unité Fonctionnelle de Cardiogénétique et Myogénétique Moléculaire et Cellulaire, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Centre hospitalier Saint-Joseph [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Bordeaux population health (BPH), Université de Bordeaux (UB)-Institut de Santé Publique, d'Épidémiologie et de Développement (ISPED)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], Assistance publique-Hôpitaux de Paris, Fondation Leducq, Société Française de Cardiologie, Deutsche Forschungsgemeinschaft, Helmholtz Zentrum München, Université de Bordeaux, Medical Research Council, ANR-10-LABX-0013,GENMED,Medical Genomics(2010), 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], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), University Medical Center [Utrecht], Universität Greifswald - University of Greifswald, German Center for Cardiovascular Research (DZHK), Berlin Institute of Health (BIH), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], University of Pennsylvania, Istituti di Ricovero e Cura a Carattere Scientifico (IRCCS), National Heart Centre Singapore (NHCS), Children’s Hospital of Philadelphia (CHOP ), University of Regensburg, Royal Brompton Hospital, Imperial College London, Istituti Clinici Scientifici Maugeri [Pavia] (IRCCS Pavia - ICS Maugeri), Helmholtz Zentrum München = German Research Center for Environmental Health, Ludwig-Maximilians-Universität München (LMU), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), University Medical Center of the Johannes Gutenberg-University Mainz, Perelman School of Medicine, Harvard Medical School [Boston] (HMS), University of Iceland [Reykjavik], Heidelberg University, Stanford University Medical School, 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), 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), Universität zu Lübeck = University of Lübeck [Lübeck], Universitätklinikum Gießen und Marburg GmbH, Maria Cecilia Hospital [Cotignola], Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Hôpital cardiologique, Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), CHU Trousseau [Tours], Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), 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), Centre hospitalier Saint Joseph - Saint Luc [Lyon], National Institute of Cardiology [Varsovie, Pologne], University of Medicine Greifswald, Centre de Référence Maladies Cardiaques Héréditaires, Centre National de Recherche en Génomique Humaine (CNRGH), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Laboratory of Excellence GENMED [Paris] (Medical Genomics), Hospital Universitario Puerta de Hierro-Majadahonda [Madrid, Spain], Swedish University of Agricultural Sciences (SLU), Centre d'Etude du Polymorphisme Humain (CEPH), Institut Universitaire d'Hématologie (IUH), Université Paris Diderot - Paris 7 (UPD7)-Université Paris Diderot - Paris 7 (UPD7)-Fondation Jean Dausset-Université Paris Cité (UPCité), Faculté de Pharmacie de Paris - Université Paris Descartes (UPD5 Pharmacie), Université Paris Descartes - Paris 5 (UPD5), Groupe Hospitalier Paris Saint Joseph, Fondation Jean Dausset - Centre d’Etudes du Polymorphisme Humain [Paris] (CEPH), and University College of London [London] (UCL)

Subjects
Cardiac & Cardiovascular Systems, Cardiomyopathy, Dilated/genetics, [SDV]Life Sciences [q-bio], Signal Transducing/genetics, Dilated cardiomyopathy, Genome-wide association study, Adaptor Proteins, Signal Transducing/genetics, 030204 cardiovascular system & hematology, TAURINE, 0302 clinical medicine, GWAS, Medicine, POSITION STATEMENT, 1102 Cardiorespiratory Medicine and Haematology, Genetics, 0303 health sciences, education.field_of_study, Genetic Predisposition to Disease/genetics, Adaptor Proteins, 4C-sequencing, Polymorphism, Single Nucleotide/genetics, Genetic risk score, Cardiology and Cardiovascular Medicine, Life Sciences & Biomedicine, Single Nucleotide/genetics, Cardiomyopathy, Dilated, Cardiomyopathy, Population, Locus (genetics), Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Chromosomes, 03 medical and health sciences, Systolic/genetics, Heart Failure, Systolic/genetics, SNP, Animals, Humans, Genetic Predisposition to Disease, Allele, Polymorphism, education, Imputation, Adaptor Proteins, Signal Transducing, 030304 developmental biology, Heart Failure, Science & Technology, business.industry, WORKING GROUP, 1103 Clinical Sciences, medicine.disease, Genetic architecture, Cardiovascular System & Hematology, Dilated/genetics, Cardiovascular System & Cardiology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, business, Apoptosis Regulatory Proteins, Heart Failure, Systolic, Genome-Wide Association Study
Abstract

Aims Our objective was to better understand the genetic bases of dilated cardiomyopathy (DCM), a leading cause of systolic heart failure. Methods and results We conducted the largest genome-wide association study performed so far in DCM, with 2719 cases and 4440 controls in the discovery population. We identified and replicated two new DCM-associated loci on chromosome 3p25.1 [lead single-nucleotide polymorphism (SNP) rs62232870, P = 8.7 × 10−11 and 7.7 × 10−4 in the discovery and replication steps, respectively] and chromosome 22q11.23 (lead SNP rs7284877, P = 3.3 × 10−8 and 1.4 × 10−3 in the discovery and replication steps, respectively), while confirming two previously identified DCM loci on chromosomes 10 and 1, BAG3 and HSPB7. A genetic risk score constructed from the number of risk alleles at these four DCM loci revealed a 3-fold increased risk of DCM for individuals with 8 risk alleles compared to individuals with 5 risk alleles (median of the referral population). In silico annotation and functional 4C-sequencing analyses on iPSC-derived cardiomyocytes identify SLC6A6 as the most likely DCM gene at the 3p25.1 locus. This gene encodes a taurine transporter whose involvement in myocardial dysfunction and DCM is supported by numerous observations in humans and animals. At the 22q11.23 locus, in silico and data mining annotations, and to a lesser extent functional analysis, strongly suggest SMARCB1 as the candidate culprit gene. Conclusion This study provides a better understanding of the genetic architecture of DCM and sheds light on novel biological pathways underlying heart failure.

Published
2021
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6. Genetics, diagnosis, management and future directions of research of phaeochromocytoma and paraganglioma

Author

Lenders, Jacques W.M., Kerstens, Michiel, Amar, Laurence, Prejbisz, Aleksander, Robledo, Mercedes, Taieb, David, Pacak, Karel, Crona, Joakim, Zelinka, Tomáš, Mannelli, Massimo, Deutschbein, Timo, Timmers, Henri J.L.M., Castinetti, Frederic, Dralle, Henning, Widimský, Jřri, Gimenez-Roqueplo, Anne-Paule, Eisenhofer, Graeme, 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), National Institute of Cardiology [Varsovie, Pologne], Hereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Center (CNIO), Service de médecine nucléaire [Marseille], Université de la Méditerranée - Aix-Marseille 2-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Européen de Recherche en Imagerie médicale (CERIMED), Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)-École Centrale de Marseille (ECM)-Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Fédération nationale des Centres de lutte contre le Cancer (FNCLCC)-Centre National de la Recherche Scientifique (CNRS), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Uppsala University, 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), Service d'endocrinologie, diabète, maladies métaboliques [Hôpital de la Conception - APHM], Aix Marseille Université (AMU), Service d'anatomo-pathologie [CHU HEGP], Assistance publique - Hôpitaux de Paris (AP-HP) (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)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO), Technische Universität Dresden = Dresden University of Technology (TU Dresden), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
ComputingMilieux_MISCELLANEOUS, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience

Published
2020
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7. Hypertension, the renin–angiotensin system, and the risk of lower respiratory tract infections and lung injury: implications for COVID-19

Author

Alexandre Persu, Aleksander Prejbisz, Engi Abd El-Hady Algharably, Reinhold Kreutz, Michel Azizi, Piotr Dobrowolski, Ji-Guang Wang, Michel Burnier, Thomas Günther Riemer, Tomasz J. Guzik, Andrzej Januszewicz, Bodescot, Myriam, Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Université Paris Descartes - Paris 5 (UPD5), Hypertension Department [Paris], 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), CArdiovasculaire Rénal Transplantation nEurovasculaire [Paris] (DMU CARTE), CIC - HEGP (CIC 1418), Assistance publique - Hôpitaux de Paris (AP-HP) (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)-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), National Institute of Cardiology [Varsovie, Pologne], Institute of Cardiovascular and Medical Sciences [Glasgow], University of Glasgow, Uniwersytet Jagielloński w Krakowie = Jagiellonian University (UJ), Cliniques Universitaires Saint-Luc [Bruxelles], Université Catholique de Louvain = Catholic University of Louvain (UCL), Ruijin Hospital [Shanghai, Chine], Shanghai Jiao Tong University School of Medicine, Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), This work is funded by the DFG (German Research Foundation): project number 394046635-SFB 1365-RENOPROTECTION., Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-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), UCL - SSS/IREC/CARD - Pôle de recherche cardiovasculaire, and UCL - (SLuc) Service de pathologie cardiovasculaire

Subjects
medicine.medical_specialty, Coronavirus disease 2019 (COVID-19), Physiology, Context (language use), Review, 030204 cardiovascular system & hematology, Lung injury, Cardiovascular, 03 medical and health sciences, Angiotensin, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Physiology (medical), Internal medicine, Renin–angiotensin system, Medicine, 030212 general & internal medicine, Risk factor, Lung, [SDV.MP.VIR] Life Sciences [q-bio]/Microbiology and Parasitology/Virology, [SDV.MHEP.ME] Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Kidney, [SDV.MHEP.ME]Life Sciences [q-bio]/Human health and pathology/Emerging diseases, Respiratory tract infections, business.industry, COVID-19, 3. Good health, [SDV.MHEP.CSC] Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, medicine.anatomical_structure, Hypertension, [SDV.MP.VIR]Life Sciences [q-bio]/Microbiology and Parasitology/Virology, Cardiology and Cardiovascular Medicine, business
Abstract

Systemic arterial hypertension (referred to as hypertension herein) is a major risk factor of mortality worldwide, and its importance is further emphasized in the context of the novel severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection referred to as COVID-19. Patients with severe COVID-19 infections commonly are older and have a history of hypertension. Almost 75% of patients who have died in the pandemic in Italy had hypertension. This raised multiple questions regarding a more severe course of COVID-19 in relation to hypertension itself as well as its treatment with renin–angiotensin system (RAS) blockers, e.g. angiotensin-converting enzyme inhibitors (ACEIs) and angiotensin receptor blockers (ARBs). We provide a critical review on the relationship of hypertension, RAS, and risk of lung injury. We demonstrate lack of sound evidence that hypertension per se is an independent risk factor for COVID-19. Interestingly, ACEIs and ARBs may be associated with lower incidence and/or improved outcome in patients with lower respiratory tract infections. We also review in detail the molecular mechanisms linking the RAS to lung damage and the potential clinical impact of treatment with RAS blockers in patients with COVID-19 and a high cardiovascular and renal risk. This is related to the role of angiotensin-converting enzyme 2 (ACE2) for SARS-CoV-2 entry into cells, and expression of ACE2 in the lung, cardiovascular system, kidney, and other tissues. In summary, a critical review of available evidence does not support a deleterious effect of RAS blockers in COVID-19 infections. Therefore, there is currently no reason to discontinue RAS blockers in stable patients facing the COVID-19 pandemic., Graphical Abstract Graphical Abstract

Published
2020
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8. Current use of cardiac magnetic resonance in tertiary referral centres for the diagnosis of cardiomyopathy: the ESC EORP Cardiomyopathy/Myocarditis Registry

Author

Juan Ramon Gimeno Blanes, Juan Pablo Kaski, Elena Biagini, Katarzyna Mizia-Stec, Philippe Charron, Petar M. Seferovic, Michal Tendera, Fernando Domínguez, Cécile Laroche, Stephan B. Felix, Alida L.P. Caforio, Luigi Tavazzi, Perry M. Elliott, Maria Angela Losi, Eorp Cardiomyopathy Registry Investigators, Giuseppe Limongelli, Roberto Barriales-Villa, Natalia Ojrzyńska, Maciej T. Wybraniec, Aldo P. Maggioni, Silesian Medical University, Katowice, Poland, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospital Clínico Universitario Virgen de la Arrixaca [Murcia, Spain], University College of London [London] (UCL), Research Center [Associazione Nazionale Medici Cardiologi Ospedalieri] (ANMCO Research Center), Associazione Nazionale Medici Cardiologi Ospedalieri [Firenze] (ANMCO), University Hospital of Ferrara and Maria Cecilia Hospital, Universität Greifswald - University of Greifswald, National Institute of Cardiology [Varsovie, Pologne], Federico II University Hospital, Universiteit van Amsterdam (UvA), Mizia-Stec, Katarzyna, Charron, Philippe, Gimeno Blanes, Juan Ramon, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michał, Felix, Stephan B, Dominguez, Fernando, Ojrzynska, Natalia, Losi, Maria-Angela, Limongelli, Giuseppe, Barriales-Villa, Roberto, Seferovic, Petar M, Biagini, Elena, Wybraniec, Maciej, Laroche, Cecile, and Caforio, Alida L P

Subjects
medicine.medical_specialty, Myocarditis, Referral, Cardiomyopathy, registry, 030204 cardiovascular system & hematology, cardiac magnetic resonance, Right ventricular cardiomyopathy, cardiomyopathy, transthoracic echocardiography, 030218 nuclear medicine & medical imaging, 03 medical and health sciences, 0302 clinical medicine, [SDV.MHEP.CSC]Life Sciences [q-bio]/Human health and pathology/Cardiology and cardiovascular system, Internal medicine, Medicine, Echocardiography transthoracic, AcademicSubjects/MED00200, Radiology, Nuclear Medicine and imaging, In patient, cardiovascular diseases, Adult patients, business.industry, General Medicine, medicine.disease, 3. Good health, cardiovascular system, Cardiology, Original Article, Cardiology and Cardiovascular Medicine, business, Cardiac magnetic resonance
Abstract

Aims Cardiac magnetic resonance (CMR) is recommended in the diagnosis of cardiomyopathies, but it is time-consuming, expensive, and limited in availability in some European regions. The aim of this study was to determine the use of CMR in cardiomyopathy patients enrolled into the European Society of Cardiology (ESC) cardiomyopathy registry [part of the EURObservational Research Programme (EORP)]. Methods and results Three thousand, two hundred, and eight consecutive adult patients (34.6% female; median age: 53.0 ± 15 years) with cardiomyopathy were studied: 1260 with dilated (DCM), 1739 with hypertrophic (HCM), 66 with restrictive (RCM), and 143 with arrhythmogenic right ventricular cardiomyopathy (ARVC). CMR scans were performed at baseline in only 29.4% of patients. CMR utilization was variable according to cardiomyopathy subtypes: from 51.1% in ARVC to 36.4% in RCM, 33.8% in HCM, and 20.6% in DCM (P, Graphical Abstract

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