Prevalence and Clinical Significance of DNA Variants Predisposing to Cardiomyopathy

A genetic association study indicates that 0.7% of participants harbor a pathogenic variant related to inherited cardiomyopathy and are at increased risk of cardiovascular disease (CVD) and all-cause mortality. The study included 9667 US participants (mean age 54.0 years; 43.8% women; 27.5% African and 72.5% European ancestry) and 49 744 UK Biobank participants (mean age 57.1 years; 54.5% women; 2.0% African, 0.3% East Asian, 1.9% South Asian, and 93.4% European ancestry). Pathogenicity of 13 genes was classified and 0.61% and 0.73% in the US and UK cohorts, respectively, harbored an actionable pathogenic or likely pathogenic variant associated with dilated or hypertrophic cardiomyopathy. Carriers of these variants were not reliably identifiable by imaging, and the presence of these variants was associated with increased risk of heart failure (hazard ratio [HR], 1.7), atrial fibrillation (HR, 2.9), and all-cause mortality (HR, 1.5) in the US cohort. Similar risk patterns were observed in the UK cohort. The findings suggest that it would be challenging to identify the variant carriers clinically without genetic testing but are at increased risk for CVD and all-cause mortality. Source: https://jamanetwork.com/