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dc.contributor.authorS. Ware, James
dc.contributor.authorAmor Salamanca, Almudena
dc.contributor.authorUpasana, Tayal
dc.contributor.authorGarcía Pavía, Pablo 
dc.contributor.authorEste artículo tiene 30 autores
dc.date.accessioned2018-11-21T12:19:18Z
dc.date.available2018-11-21T12:19:18Z
dc.date.issued2018
dc.identifier.issn0735-1097spa
dc.identifier.urihttp://hdl.handle.net/10641/1534
dc.description.abstractBACKGROUND Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown which factors determine cardiac toxicity on exposure to alcohol. OBJECTIVES This study sought to evaluate the role of variation in cardiomyopathy-associated genes in the pathophysiology of ACM, and to examine the effects of alcohol intake and genotype on dilated cardiomyopathy (DCM) severity. METHODS The authors characterized 141 ACM cases, 716 DCM cases, and 445 healthy volunteers. The authors compared the prevalence of rare, protein-altering variants in 9 genes associated with inherited DCM. They evaluated the effect of genotype and alcohol consumption on phenotype in DCM. RESULTS Variants in well-characterized DCM-causing genes were more prevalent in patients with ACM than control subjects (13.5% vs. 2.9%; p ¼ 1.2 10 5), but similar between patients with ACM and DCM (19.4%; p ¼ 0.12) and with a predominant burden of titin truncating variants (TTNtv) (9.9%). Separately, we identified 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 (95% confidence interval: 2.3% to 15.1%; p < 0.007) compared with those without TTNtv and excess alcohol consumption. The presence of TTNtv did not predict phenotype, outcome, or functional recovery on treatment in ACM patients. CONCLUSIONS TTNtv represent a prevalent genetic predisposition for ACM, and are also associated with a worse left ventricular ejection fraction in DCM patients who consume alcohol above recommended levels. Familial evaluation and genetic testing should be considered in patients presenting with ACM.spa
dc.language.isoengspa
dc.publisherJournal of the American College of Cardiologyspa
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/es/*
dc.subjectAlcoholspa
dc.subjectDilated cardiomyopathyspa
dc.subjectGeneticsspa
dc.titleGenetic Etiology for Alcohol-Induced Cardiac Toxicity.spa
dc.typearticlespa
dc.description.versionpost-printspa
dc.rights.accessRightsopenAccessspa
dc.description.extent567 KBspa
dc.identifier.doi10.1016/j.jacc.2018.03.462spa


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