Abstract
Hypertrophic cardiomyopathy is the most common inheritable disease of the cardiovascular system. It is inherited as an autosomal dominant trait, which means that the risk for the fi rst-grade relatives is 50%.
The penetrance of the disease is incomplete. Hypertrophic cardiomyopathy has a considerable genotypic, allelic and fenotypic heterogeneity - it can be caused by more than 400 mutations in 14 genes and the clinical picture may be very different among the patients.
The specifi c genetic disorder can be identifi ed in only about 60% of the patients. The disease is caused by the mutations in the genes encoding the sarcomere proteins, most often in the genes for beta-myosin and the myosin binding protein C.
The type of the mutation has a certain infl uence on the impacts of the disease: the progression and the severity of the hypertrophy of the left ventricle and partly on the risk of sudden death as well. Hypertrophic cardiomyopathy is related to the inheritable forms of other cardiomyopathies, especially the dilated cardiomyopathy.
Genes containing mutations which can cause different cardiomyopathies have been identifi ed. The principal clinical output of the genetics of hypertrophic cardiomyopathy which is expected to be further developed is genetic consultancy - the DNA diagnosis in patients? relatives.