[Contribution of genetics to cardiomyopathy].
Cardiomyopathies are diseases of cardiac muscle of unknown origin and responsible for a high morbidity and mortality by sudden death or progressive heart failure. The two main forms are; hypertrophic cardiomyopathies characterized by an increased thickness of ventricular walls which are familial in more than 50% of cases; dilated cardiomyopathies with a progressive cardiac dilatation which are familial in approximately 30% of cases. Different genes or chromosomal loci are associated with familial forms of cardiomyopathies. Susceptibility genes have also been recognised in sporadic cases of dilated cardiomyopathy. Finally, modifier genes which influence progression or clinical presentation of the disease have been identified. Identification of genetic factors associated with cardiomyopathies has promising perspectives: A better understanding of molecular mechanisms underlying the disease; early identification and management of patients at risk allowing; development of pharmacogenomics in heart failure.
Komajda
Michel
M
Hôpital Pitié-Salpêtrière, Service de Cardiologie, 47-83, bld de l'hôpital-75651 Paris.
D009202:Cardiomyopathies / Q000235:genetics*; D006801:Humans