Spectrum of Rare and Common Genetic Variants in Arrhythmogenic Cardiomyopathy Patients.

ABSTRACT: Arrhythmogenic cardiomyopathy (ACM) is a rare inherited disorder, whose genetic cause is elusive in about 50-70% of cases. ACM presents a variable disease course which could be influenced by genetics. We performed next-generation sequencing on a panel of 174 genes associated with inherited cardiovascular diseases on 82 ACM probands (i) to describe and classify the pathogenicity of rare variants according to the American College of Medical Genetics and Genomics both for ACM-associated genes and for genes linked to other cardiovascular genetic conditions; (ii) to assess, for the first time, the impact of common variants on the ACM clinical disease severity by genotype-phenotype correlation and survival analysis. We identified 15 (likely) pathogenic variants and 66 variants of uncertain signi

SUBMITTER: Lippi M 

PROVIDER: S-EPMC9405889 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature