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1. Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

Author

Eline Overwater, A.C. Brehin, Bertrand Isidor, Luisa Marsili, Ho Y. Cheung, Yvonne Hilhorst-Hofstee, Catherine Boileau, Nadine Hanna, Els Voorhoeve, Fanny Morice-Picard, J. Peter van Tintelen, Yline Capri, Laurent Gouya, Pauline Arnaud, Eelco Dulfer, Clémence Vanlerberghe, Marieke J.H. Baars, Alessandra Maugeri, Arjan C. Houweling, Marion Gérard, Sylvie Odent, Leonie A. Menke, Lauriane Le Gloan, Dominique Bonneau, Geneviève Baujat, Vrije Universiteit Amsterdam [Amsterdam] (VU), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Recherche Vasculaire Translationnelle (LVTS (UMR_S_1148 / U1148)), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Sorbonne Paris Nord, Imagine - Institut des maladies génétiques (IMAGINE - U1163), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Amsterdam [Amsterdam] (UvA), Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Département de génétique [Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-AP-HP Hôpital universitaire Robert-Debré [Paris], University Medical Center Groningen [Groningen] (UMCG), Service de Génétique [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), Leiden University Medical Center (LUMC), Centre hospitalier universitaire de Nantes (CHU Nantes), Institut de Génétique et Développement de Rennes (IGDR), Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), CHU Bordeaux [Bordeaux], University Medical Center [Utrecht], Human Genetics, Graduate School, ACS - Heart failure & arrhythmias, Amsterdam Reproduction & Development (AR&D), General Paediatrics, Amsterdam Neuroscience - Complex Trait Genetics, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP)-Université Sorbonne Paris Nord, Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Human genetics, ACS - Atherosclerosis & ischemic syndromes, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Universiteit Leiden, and Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )

Subjects
0301 basic medicine, Male, [SDV]Life Sciences [q-bio], MARFAN, 030105 genetics & heredity, Loeys–Dietz syndrome, Arachnodactyly, Genotype-phenotype distinction, connective tissue disorder, Medicine, aortic dissection, Child, Connective Tissue Diseases, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Aortic dissection, THORACIC AORTIC-ANEURYSM, Homozygote, Middle Aged, aortic dilatation, Penetrance, 3. Good health, Pedigree, Phenotype, Child, Preschool, Cohort, Female, Joint hypermobility, Adult, medicine.medical_specialty, Heterozygote, GENES, Adolescent, Genotype, 03 medical and health sciences, Young Adult, Transforming Growth Factor beta3, TGFB3, Internal medicine, Genetics, Humans, Genetic Predisposition to Disease, Expressivity (genetics), [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, transforming growth factor beta 3, medicine.disease, Loeys-Dietz syndrome, 030104 developmental biology, Mutation, business
Abstract

International audience; Disease-causing variants in TGFB3 cause an autosomal dominant connective tissue disorder which is hard to phenotypically delineate because of the small number of identified cases. The purpose of this retrospective cross-sectional multicentre study is to elucidate the genotype and phenotype in an international cohort of TGFB3 patients. Eleven (8 novel) TGFB3 disease-causing variants were identified in 32 patients (17 families). Aortic root dilatation and mitral valve disease represented the most common cardiovascular findings, reported in 29% and 32% of patients, respectively. Dissection involving distal aortic segments occurred in two patients at age 50 and 52 years. A high frequency of systemic features (65% high-arched palate, 63% arachnodactyly, 57% pectus deformity, 52% joint hypermobility) was observed. In familial cases, incomplete penetrance and variable clinical expressivity were noted. Our cohort included the first described homozygous patient, who presented with a more severe phenotype compared to her heterozygous relatives. In conclusion, TGFB3 variants were associated with a high percentage of systemic features and aortic disease (dilatation/dissection) in 35% of patients. No deaths occurred from cardiovascular events or pregnancy-related complications. Nevertheless, homozygosity may be driving a more severe phenotype.

Published
2020
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2. Author response for 'Phenotypic spectrum of TGFB3 disease‐causing variants in a Dutch‐French cohort and first report of a homozygous patient'

Author

Ho Y. Cheung, Yvonne Hilhorst-Hofstee, Eline Overwater, Eelco Dulfer, Geneviève Baujat, Sylvie Odent, Alessandra Maugeri, Dominique Bonneau, Fanny Morice-Picard, Catherine Boileau, A.C. Brehin, Arjan C. Houweling, M. J. H. Baars, Laurent Gouya, Marion Gérard, Bertrand Isidor, Clémence Vanlerberghe, Leonie A. Menke, Yline Capri, Nadine Hanna, Pauline Arnaud, J. Peter van Tintelen, Lauriane Le Gloan, Els Voorhoeve, and Luisa Marsili

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Cohort, medicine, Disease, business, Phenotype
Published
2019
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3. 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
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4. Outcome of adults with Eisenmenger syndrome treated with pulmonary arterial hypertension-specific drugs in a French multicenter study

Author

Sebastien, Hascoet, primary, Emmanuelle, Fournier, additional, Xavier, Jaïs, additional, Lauriane, Le Gloan, additional, Claire, Dauphin, additional, Ali, Houijeh, additional, Francois, Godart, additional, Xavier, Iriart, additional, Adelaïde, Richard, additional, Jelena, Radojevic, additional, Pascal, Amedro, additional, Gilles, Bosser, additional, Nathalie, Souletie, additional, Yvette, Bernard, additional, Pamela, Moceri, additional, Hélène, Bouvaist, additional, Pierre, Mauran, additional, Elise, Barre, additional, Adeline, Basquin, additional, Clement, Karsenty, additional, Damien, Bonnet, additional, Laurence, Iserin, additional, Olivier, Sitbon, additional, Jérôme, Petit, additional, Elie, FadeL, additional, Marc, Humbert, additional, and Magalie, Ladouceur, additional

Published
2017
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5. Stenting in paediatric and adult congenital heart diseases: A French multicentre study in the current era

Author

F. Godart, Zakaria Jalal, Lauriane Le Gloan, Philippe Acar, Jean-Benoit Thambo, Lucia Mauri, Bruno Lefort, Aurélie Chalard, Jean-François Piéchaud, Ali Houeijeh, Sébastien Hascoët, Alban Baruteau, Ivan Bouzguenda, Patrice Guerin, and Alain Fraisse

Subjects
Male, medicine.medical_treatment, Bioresorbable stent, Congenital heart diseases, Catheterization procedure, Ductus arteriosus, Stent, Child, Cardiopathies congénitales, Paediatric cardiology, General Medicine, Middle Aged, Cardiologie pédiatrique, Survival Rate, surgical procedures, operative, medicine.anatomical_structure, Treatment Outcome, Child, Preschool, Stent biorésorbable, Cardiology, Female, Stents, France, Cardiology and Cardiovascular Medicine, Adult, Heart Defects, Congenital, medicine.medical_specialty, Adolescent, Revalvulation pulmonaire percutanée, Young Adult, Internal medicine, medicine.artery, Angioplasty, medicine, Humans, cardiovascular diseases, Cardiac Surgical Procedures, Survival rate, Aged, Retrospective Studies, Percutaneous pulmonary valve implantation, business.industry, Infant, Newborn, Infant, Retrospective cohort study, Odds ratio, equipment and supplies, Surgery, Pulmonary artery, Morbidity, business, Stent congenital, Follow-Up Studies
Abstract

SummaryBackgroundMany stents are used “off-label” during the management of congenital heart diseases (CHD).AimsTo describe indications for, results of, and adverse events associated with stenting in CHD in current practice.MethodsParticipation in this study was proposed to all catheterization laboratories that specialize in CHD in France (M3C network). All paediatric and adult CHD cases with stent implantation in 2013 were included retrospectively.ResultsOverall, 207 stents were implanted in 151 patients across 11 centres. Median age was 13.7 years (range, 5 days to 70.1 years). Main procedure indications were branch pulmonary artery angioplasty (n=46, 29.1%), aortic (re)coarctation stenting (n=43, 27.2%), percutaneous pulmonary valve implantation (n=32, 20.2%) and ductus arteriosus stenting (n=14, 8.9%). The main stents implanted were the CP Stent™ (n=61, 29.5%), the Max™ LD stent (n=43, 20.8%), the Valeo® stent (n=28, 13.5%) and valved stents (n=30, 14.5%). Procedures were considered successful in 96.8% of cases (95% confidence interval [CI] 92.8–99.0%). Adverse events were observed in 23 procedures (14.7%, 95% CI 9.5–21.0%). Ductus arteriosus stenting (odds ratio 12.4, 95% CI 2.0–77.5; P

Published
2015

6. PCV3-28 - Outcome of adults with Eisenmenger syndrome treated with pulmonary arterial hypertension-specific drugs in a French multicenter study

Author

Sebastien, Hascoet, Emmanuelle, Fournier, Xavier, Jaïs, Lauriane, Le Gloan, Claire, Dauphin, Ali, Houijeh, Francois, Godart, Xavier, Iriart, Adelaïde, Richard, Jelena, Radojevic, Pascal, Amedro, Gilles, Bosser, Nathalie, Souletie, Yvette, Bernard, Pamela, Moceri, Hélène, Bouvaist, Pierre, Mauran, Elise, Barre, Adeline, Basquin, Clement, Karsenty, Damien, Bonnet, Laurence, Iserin, Olivier, Sitbon, Jérôme, Petit, Elie, FadeL, Marc, Humbert, and Magalie, Ladouceur

Published
2017
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7. Modalities of surveillance for the paediatric heart transplant patients: A national survey

Author

Yves Dulac, Béatrice Bonello, Lucile Houyel, Philippe Mauriat, Jean-Benoit Thambo, Pierre-Emmanuel Séguéla, Eric Epailly, Lauriane Le Gloan, Sylvie Di Filippo, Franck Iserin, and Karine Nubret

Subjects
Pediatrics, medicine.medical_specialty, Modalities, business.industry, medicine, Transplant patient, General Medicine, Cardiology and Cardiovascular Medicine, business, Intensive care medicine
Published
2013
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