Cor Vasa 2010, 52(7-8):399-402 | DOI: 10.33678/cor.2010.108

The genetics of cardiomyopathies

Pavol Tomašov

Kardiologické oddělení, Kardiovaskulární centrum, Fakultní nemocnice Motol, Praha, Česká republika

Cardiomyopathies make up a heterogeneous group of diseases with structural or functional myocardial impairment in the absence of an ischemic or hemodynamic insult capable of inducing this impairment. As a considerable proportion of cardiomyopathies is genetically mediated, they tend to occur more often in family members. The heritability of cardiomyopathy exhibits large genotype and phenotype variability and often incomplete penetrance. New concepts in the field of genetics of cardiomyopathies have helped to partly clarify the etiopathogenesis of these diseases and have become part of new classification systems of myocardial diseases. The most important clinical application of genetics in patients with cardiomyopathies is screening of their relatives. Future challenges of genetic research include more accurate risk stratification of patients and wider availability of routine DNA-based diagnosis.

Keywords: Cardiomyopathies; Hereditable diseases; Genetic testing

Published: July 1, 2010  Show citation