INHERITED CARDIOMYOPATHIES: MODERN METHODS OF GENETIC TESTING

DOI: https://doi.org/10.29296/24999490-2019-01-03

E.I. Surkova(1), O.S. Chumakova(2, 3), A.G. Nikitin(3), A.N. Toropovskiy(1) 1-«TestGene» LLC, 44th Inzhenerny proezd, 9, Ulyanovsk, 432072, Russian Federation; 2-Central State Medical Academy of Department of Presidential Affairs, Marshala Timoshenko str., 19, bld. 1A, Moscow, 121359, Russian Federation; 3-Federal Research clinical Center for specialized types of health care and medical technologies of Federal Medical and Biology Agency, Orekhovy boulevard, 28, Moscow, 115682, Russian Federation E-mail: [email protected]

Cardiomyopathies are diseases that affect the heart muscle. They are characterized by myocardial dysfunction in the absence or low severity of common cardiovascular diseases, such as coronary atherosclerosis, hypertension, valvular heart diseases. Cardiomyopathies are an extremely heterogeneous group of diseases, both hereditary and acquired, that causes difficulties in establishing an accurate diagnosis. To date, it is already clear that the precise definition of the etiology of cardiomyopathy makes it possible to evaluate the patient's prognosis and apply individual therapy. Therapy can vary widely, for example, for a hereditary or acquired form of morphologically similar myocardial change. At present, a large number of genetic changes leading to the development of pathological modification in the myocardium is known. The most effective and widely used method of genetic testing of inherited cardiomyopathies in the last 10 years is next-generation sequencing (NGS). The widespread use of NGS has led to a better understanding of the causes and heterogeneity of the cardiomyopathy. This review presents data on the most common genetic causes and role of discovered mutations for the pathogenesis of several types of inherited cardiomyopathies: hypertrophic, dilated, arrhythmogenic, restrictive and left ventricular non-compaction. An analysis of literature on the prevalence of certain genetic changes in the Russian population was made. Also, we compare various approaches (whole genome, whole exome, and target sequencing) to genetic testing of this subgroup of diseases. The importance of genetic testing of patients with cardiomyopathy and their relatives is underlined.
Keywords: 
cardiomyopathy, NGS, genetic testing
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