[Clinical and molecular genetics of hypertrophic cardiomyopathy].
Recent developments in molecular genetics have allowed to identify mutations in seven genes coding the beta myosin heavy chain, troponin T, alpha tropomyosin, myosin binding protein C, essential and regulatory myosin light chains and troponin I causing hypertrophic cardiomyopathy. These mutations affect critical, evolutionary conserved nucleotides of these genes and influence vital functions of the encoded proteins. As all seven genes encodes sarcomeric proteins in the heart muscle, hypertrophic cardiomyopathy is regarded these days as a disease of the sarcomer. Recent data indicate that some mutations are associated with "malignant" clinical picture, with rapidly developing, severe symptoms of the disease and increased risk of sudden cardiac death while other mutations bear a more favourable prognosis. Apart of the disease causing mutation other factors, including disease modifier genes, are likely to make an impact on the clinical appearance of hypertrophic cardiomyopathy. The knowledge provided by molecular genetics influences the clinical management of the disease even today and based on the investigation of mutation carrying patients new diagnostic criteria was proposed for hypertrophic cardiomyopathy. The challenge for the future is the establishment of routine genetic diagnostics and the development of possible gene therapy.
Sepp
R
R
II. Belgyógyászati Klinika, Szent-Györgyi Albert Orvostudományi Egyetem, Szeged.
Csanády
M
M
D002312:Cardiomyopathy, Hypertrophic / Q000145:classification / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008967:Molecular Biology; D009154:Mutation; D014944:World Health Organization