Personalized Interpretation and Clinical Translation of Genetic Variants Associated With Cardiomyopathies.

ABSTRACT: Cardiomyopathies are a heterogeneous group of inherited cardiac diseases characterized by progressive myocardium abnormalities associated with mechanical and/or electrical dysfunction. Massive genetic sequencing technologies allow a comprehensive genetic analysis to unravel the cause of disease. However, most identified genetic variants remain of unknown clinical significance due to incomplete penetrance and variable expressivity. Therefore, genetic interpretation of variants and translation into clinical practice remain a current challenge. We performed retrospective comprehensive clinical assessment and genetic analysis in six families, four diagnosed with arrhythmogenic cardiomyopathy, and two diagnosed with hypertrophic cardiomyopathy (HCM). Genetic testing identified three rare varian

SUBMITTER: Campuzano O 

PROVIDER: S-EPMC6529573 | biostudies-literature | 2019

REPOSITORIES: biostudies-literature