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Genetic Landscape of Dilated Cardiomyopathy

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Abstract

Dilated cardiomyopathy (DCM) is one of the most common and clinically heterogeneous forms of cardiomyopathy characterized by a high risk of unfavorable course and outcome. A complex etiology has been shown for DCM. Genetic factors contribute to both familial and sporadic cases. The review summarizes information on the role of genetic factors in the clinical variability of DCM. Much of the data accumulated to date indicates a high genetic heterogeneity of DCM. There are numerous rare pathogenic variants in more than 100 genes that lead to the disease. The type, number, and localization of these genetic variants can affect the clinical course of DCM. Furthermore, common genetic variants are localized in various loci, including genomic regulatory regions and genes of “monogenic forms” of DCM, acting as factors modifying the pathological phenotype.

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This work was carried out within the framework of the state assignment of the Ministry of Science and Higher Education.

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  1. Research Institute of Medical Genetics, Tomsk National Research Medical Center, Russian Academy of Sciences, 634050, Tomsk, Russia

    A. N. Kucher, A. A. Sleptcov & M. S. Nazarenko

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  1. A. N. Kucher
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  2. A. A. Sleptcov
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Kucher, A.N., Sleptcov, A.A. & Nazarenko, M.S. Genetic Landscape of Dilated Cardiomyopathy. Russ J Genet 58, 369–383 (2022). https://doi.org/10.1134/S1022795422030085

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