Background: Hypertrophic cardiomyopathy (HCM), described as the presence of hypertrophy of left ventricular, is the most prevalent heritable cardiovascular disease with predominantly an autosomal dominant type of inheritance. However, pathogenic alleles are not identified in at least 25% of patients with HCM, and the spectrum of pathogenic variants that contribute to the development of HCM in Russia has not been fully described. Therefore, the goal of our study was to identify genetic variants associated with the etiopathogenesis of HCM in Russian patients.
Methods: The study cohort included 98 unrelated adult patients with HCM. We performed targeted exome sequencing, an analysis using various algorithms for prediction of the impact of variants on protein structure and the prediction of pathogenicity using ACMG Guidelines.
Results: The frequency of pathogenic and likely pathogenic variants in all HCM-related genes was 8% in our patients. We also identified 20 variants of uncertain significance in all HCM-related genes.
Conclusions: The prevalence of individual pathogenic variants in HCM-related genes in Russian population appears to be lower than in general European population, which could be explained by ethnic features of Russian population, age characteristics of our sample, or unidentified pathogenic variants in genes previously not linked with HCM.
Keywords: exome; genetics; hypertrophic cardiomyopathy; next generation sequencing; pathogenic variants.
© 2021 Institute of Molecular Genetics of National Research Centre Kurchatov Institute. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.