Genetic Variants and Alcoholic Cardiomyopathy

A Spanish study identified that cardiomyopathy-associated genes titin truncating variants (TTNtv) represent a prevalent genetic predisposition for alcoholic cardiomyopathy (ACM), and are also associated with a worse left ventricular ejection fraction in dilated cardiomyopathy (DCM) patients who consume alcohol above recommended levels. The study included 141 ACM cases, 716 DCM cases, and 445 healthy volunteers. Variants in well-characterized DCM-causing genes were more prevalent in patients with ACM than control subjects (13.5% vs. 2.9%), but similar between patients with ACM and DCM (19.4%) and with a predominant burden of TTNtv (9.9%). There was an interaction between TTN genotype and excess alcohol consumption in a cohort of DCM patients not meeting ACM criteria. On multivariate analysis, DCM patients with a TTNtv who consumed excess alcohol had an 8.7% absolute reduction in ejection fraction compared with those without TTNtv and excess alcohol consumption. It is estimated that mutations in TTNtv genes may account for 20% to 25% of familial DCM cases. Source: http://www.onlinejacc.org/