[Genetics and dilated cardiomyopathy].
Dilated cardiomyopathy is characterised by dilatation associated with ventricular dysfunction and represents the leading cause of cardiac transplantation. The aetiology of dilated cardiomyopathy is either multifactorial (about 70% of cases) with genetic and environmental components or monogenic (about 30% of cases) by autosomal dominant transmission. One of the features of this cardiomyopathy is its very wide range of genetic abnormalities and of its phenotype expression. In the multifactorial forms, several polymorphisms have been associated with the predisposition or with the severity of the phenotype. However, these associations have only been observed in a small number of cases and require further confirmation. In the monogenic forms, many culprit genes and morbid loci have been identified. These genes code essentially the proteins involved in the architecture of the cardiomyocyte suggesting mechanisms of action which still remain largely hypothetical. To improve the management of patients and their relatives, other morbid genes remain to be identified in addition to understanding the precise molecular and physiological mechanisms which trigger the disease.
Villard
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Laboratoire de génétique et insuffisance cardiaque, Association Claude Bernard/Université Paris VI, groupe hospitalier La Pitié-Salpêtrière, pavillon Rambuteau, 47, bd de l'Hôpital, 75651 Paris. villard@chups.jussieu.fr
D002311:Cardiomyopathy, Dilated / Q000235:genetics* / Q000503:physiopathology*; D020022:Genetic Predisposition to Disease; D016027:Heart Transplantation; D006801:Humans; D010641:Phenotype; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D018487:Ventricular Dysfunction, Left