BibTex format

author = {Ware, JS and Amor-Salamanca, A and Tayal, U and Govind, R and Serrano, I and Salazar-Mendiguchia, J and Garcia-Pinilla, JM and Pascual-Figal, DA and Nunez, J and Guzzo-Merello, G and Gonzalez-Vioque, E and Bardaji, A and Manito, N and Lopez-Garrido, MA and Padron-Barthe, L and Edwards, E and Whiffin, N and Walsh, R and Buchan, RJ and Midwinter, W and Wilk, A and Prasad, S and Pantazis, A and Baski, J and O'Regan, DP and Alsonso-Pulpon, A and Cook, SA and Lara-Pezzi, E and Barton, PJ and Garcia-Pavia, P},
doi = {10.1016/j.jacc.2018.03.462},
journal = {Journal of the American College of Cardiology},
pages = {2293--2302},
title = {A genetic etiology for alcohol-induced cardiac toxicity},
url = {},
volume = {71},
year = {2018}

RIS format (EndNote, RefMan)

AB - Background: Alcoholic cardiomyopathy (ACM) is defined by a dilated and impaired left ventricle due to chronic excess alcohol consumption. It is largely unknown what factors determine cardiac toxicity on exposure to alcohol.Objectives: We 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 DCM severity.Methods: We characterized 141 ACM cases, 716 dilated cardiomyopathy (DCM) cases and 445 healthy volunteers. We compared the prevalence of rare, protein-altering variants in 9 genes associated with inherited DCM. We 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 controls (13.5% vs 2.9%; P=1.2e-05), but similar between patients with ACM and DCM (19.4%; P=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% CI -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 LVEF in DCM patients who consume alcohol above recommended levels. Familial evaluation and genetic testing should be considered in patients presenting with ACM.
AU - Ware,JS
AU - Amor-Salamanca,A
AU - Tayal,U
AU - Govind,R
AU - Serrano,I
AU - Salazar-Mendiguchia,J
AU - Garcia-Pinilla,JM
AU - Pascual-Figal,DA
AU - Nunez,J
AU - Guzzo-Merello,G
AU - Gonzalez-Vioque,E
AU - Bardaji,A
AU - Manito,N
AU - Lopez-Garrido,MA
AU - Padron-Barthe,L
AU - Edwards,E
AU - Whiffin,N
AU - Walsh,R
AU - Buchan,RJ
AU - Midwinter,W
AU - Wilk,A
AU - Prasad,S
AU - Pantazis,A
AU - Baski,J
AU - O'Regan,DP
AU - Alsonso-Pulpon,A
AU - Cook,SA
AU - Lara-Pezzi,E
AU - Barton,PJ
AU - Garcia-Pavia,P
DO - 10.1016/j.jacc.2018.03.462
EP - 2302
PY - 2018///
SN - 0735-1097
SP - 2293
TI - A genetic etiology for alcohol-induced cardiac toxicity
T2 - Journal of the American College of Cardiology
UR -
UR -
VL - 71
ER -