[Clinical application of the genetic aspects of familial hypertrophic cardiomyopathy].
Familial hypertrophic cardiomyopathy is a disease with very heterogeneous genetic characteristics, both at the intergenic level (7 genes have been identified and some of them are still unknown) and intragenic level (more than 100 mutations have been identified). This genetic heterogeneity at least partly explains the clinical heterogeneity, expressed in terms of the degree of left ventricular hypertrophy and the inherent risk related to the disease (sudden death and/or heart failure). However, the understanding of phenotype/genotype relationships of this disease is only in the very early stages. So-called "modifier" genes are probably involved to modify the clinical profile of the disease. Many healthy carriers have been identified, but their outcome is unknown at the present time. The molecular genetics of HCM allows reevaluation of the classical clinical criteria. In the future, it would be desirable to establish specialized units for predictive and antenatal diagnosis, composed of cardiologists specialized in the disease, geneticists and psychologists in order to consider all clinical, ethical, and psychological aspects of this disease. Hopefully, this new approach to cardiology will be able to establish a more accurate risk profile for exposed subjects and guide treatment options.
Komajda
M
M
Service de Cardiologie, Hôpital Pitié-Salpêtrière, Paris.
D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D006801:Humans; D008967:Molecular Biology; D012307:Risk Factors
Génétique des cardiomyopathies hypertrophiques familiales: quelles retombées cliniques?