Genetic diversity of myocardial hypertrophy

• Elena V. Zaklyazminskaya

Abstract

Myocardial hypertrophy is a clinical phenomenon often observed in the population. Its prevalence is approx. 0,2% (1:500). About one half of cases of myocardial hypertrophy are familial and represent a specific type of cardiomyopathy. Hypertrophic cardiomyopathy (HCM) is characterized by the primary (not associated with other diseases) thickening of the left ventricular (LV) wall and/or the interventricular septum (IVS), with the possible involvement of the right ventricle. This disease is genetically heterogeneous. We know more than 20 genes encoding cardiac and sarcomeric structural proteins when mutated can lead to the disease. However, there are a large number of so-called phenocopies (ie forms of myocardial hypertrophy caused by other pathogenic mechanisms) which require a more refined differential diagnosis. This article discusses the modern concepts of genetic variability of HCM, the main types of the genetic disorders associated with myocardial hypertrofy, DNA diagnostics facilities and the use of its results in clinical practice.

Keywords:genetics, hypertrophic cardiomyopathy, genes encoding sarcomeric proteins, MYH7, MyBPC3, myodystrophy, myotonia, inborn metabolic diseases, Noonan syndrome

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