Dilated cardiomyopathy (DCM): a genetic landscape and clinical implications

Dilated cardiomyopathy (DCM) is an etiologically heterogeneous myocardial disease with a prevalence of up to 1:250 and is associated with mutations in more than 100 genes. However, pathogenic variants are identified in only 30–40% of cases. This review systematizes current data on the genetic landscape of DCM. According to international criteria, only 12 genes (including LMNA, TTN, MYH7, SCN5A, RBM20, DSP, FLNC) have a high level of evidence, whereas the majority of commercial gene panels include genes with minimal supporting data. In addition to monogenic forms, single nucleotide polymorphisms (SNPs) in genes such as IL-32, CD247, MMP2, MBL2, and components of the renin-angiotensin-aldosterone system (RAAS) play a significant role by modulating disease risk through the regulation of inflammation and extracellular matrix remodeling. The clinical significance of genetic testing lies in its ability to stratify the risk of sudden cardiac death (especially in the presence of mutations in LMNA, RBM20, FLNC) and to develop personalized therapeutic approaches. Thus, genetic testing is becoming an indispensable tool in modern cardiology. The search for literary sources was carried out in scientific databases PubMed (https://pubmed.ncbi.nlm. nih.gov/), eLIBRARY.RU (https://elibrary.ru/), Embase (embase.com), Web of science (https://www.webofscience.com), Google Scholar (scholar.google.com) for the period 2005–2025.

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