Identification of a strong genetic background for progressive cardiac conduction defect by epidemiological approach

Autor: Karim Gacem, Florence Kyndt, Vincent Probst, Estelle Baron, Jean-Jacques Schott, Swanny Fouchard, Jean Marc Dupuis, Stéphanie Chatel, Jean-Pierre Cebron, Aurelie Longueville, Hervé Le Marec, Matilde Karakachoff, Philippe Jaafar, Claude Gully, Jean-Baptiste Gourraud, Eric Rendu
Přispěvatelé: 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), Service de Cardiologie [La Roche-sur-Yon], Centre Hospitalier Départemental site de la Roche-sur-Yon (CHD de la Roche-sur-Yon), Service Cardiologie et Maladies Vasculaires [CH de Cholet], Centre Hospitalier de Cholet, Service Cardiologie et Maladies Vasculaires [CHU Angers], Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Consiglio Nazionale delle Ricerche - CNR [Pisa, Italia], Istituto di Fisiologia Clinica - IFC [Pisa, Italia], Service Cardiologie et Maladies Vasculaires [NCN Nantes], Nouvelles Cliniques Nantaises - NCN [Nantes], P.H.R.C. 2004 R20/07 and 2011 from the CHU de Nantes, France. DGOS-PHRC., CHATEL, Stephanie, unité de recherche de l'institut du thorax UMR1087 UMR6291 (ITX), CHU de Nantes, l'Institut du Thorax, CIC
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Zdroj: Heart
Heart, 2012, 98 (17), pp.1305-1310. ⟨10.1136/heartjnl-2012-301872⟩
Heart, BMJ Publishing Group, 2012, 98 (17), pp.1305-1310. ⟨10.1136/heartjnl-2012-301872⟩
ISSN: 1355-6037
1468-201X
DOI: 10.1136/heartjnl-2012-301872⟩
Popis: International audience; INTRODUCTION:Progressive cardiac conduction defect (PCCD) is a frequent disease attributed to degeneration and fibrosis of the His bundle. Over the past years, gene defects have been identified demonstrating that PCCD could be a genetic disease. The aim of this study was to show a familial aggregation for PCCD using a genetic epidemiological approach to improve in fine genetic knowledge of the transmission of the disease.METHODS AND RESULTS:Using the French social security number, the authors have been able to determine the city of birth of the 6667 patients implanted with a pacemaker (PM) for PCCD between 1995 and 2005 in the western part of France. The authors then mapped the frequency of PM implantations for PCCD. A large heterogeneity of the frequency of the disease has been observed, with a frequency of 0.21% in the major city (Nantes) ranging up to 2.28% in specific parishes. Familial studies performed in the parishes with the highest frequency of the disease allowed the authors to identify five large families with PCCD. Clinical investigations demonstrated phenotype heterogeneity between families. Three patterns have been differentiated.CONCLUSIONS:This study demonstrates a disparate geographical repartition of the frequency of PM implantation in the area of the authors at least in part related to a hereditary factor. The identification of five large families affected by PCCD using epidemiological approach underlines the existence of a major genetic background in PCCD.
Databáze: OpenAIRE
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