Key result
Rare pathogenic variants in over 100 genes shape the clinical variability and phenotype of DCM.
Why the study?
Dilated cardiomyopathy is clinically heterogeneous with a complex etiology, warranting a summary of the role of genetic factors in its clinical variability.
This review highlights the complex genetic etiology of dilated cardiomyopathy, emphasizing the role of both rare pathogenic variants across more than 100 genes and common modifying variants in determining the clinical course.
May aid DCM risk stratification; leaves open variant-specific therapeutic guidance pending prospective validation.
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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Кучер et al. (2022) conducted a review in Dilated cardiomyopathy (DCM). Genetic factors contribute to the clinical variability of dilated cardiomyopathy, with rare pathogenic variants in more than 100 genes leading to the disease and modifying the pathological phenotype.
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