Targeted exome analysis of Russian patients with hypertrophic cardiomyopathy.

ABSTRACT:

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 pre

SUBMITTER: Filatova EV 

PROVIDER: S-EPMC8606207 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature