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Genetics may predispose some heavy drinkers to alcoholic cardiomyopathy (ACM), Spanish researchers found.

Variants in nine known dilated cardiomyopathy (DCM)-causing genes were more common among ACM patients than healthy controls (13.5% versus 2.9%, P<0.0001) but similar between ACM and DCM groups (19.4%, P=0.12), according to Pablo Garcia-Pavia, MD, PhD, of Hospital Universitario Puerta de Hierro in Madrid, and colleagues.

Truncating variants of the titin-encoding gene (TTNtv) were the most common finding in ACM (9.9%). Having those variants was associated with an absolute 8.7% lower left ventricular ejection fraction (LVEF) on multivariable analysis among DCM patients who drank heavily but didn't quite meet ACM criteria (P<0.007), Garcia-Pavia's group reported in the May 22 issue of the .

"The data presented here indicate that patients with alcohol-related cardiomyopathy should undergo a three-generation pedigree and should be considered for familial evaluation, such as clinical screening and genetic testing, to identify family members at risk for developing DCM (in line with current practice for idiopathic DCM)," the authors suggested.

Excess alcohol consumption was defined as 21 units/week for men and 14 units/week for women. Criteria for ACM were DCM plus a self-reported history of alcohol intake of more than 80 g/day over a period of at least 5 years.

Clinicians advised all ACM patients to completely abstain from alcohol. After reduced alcohol intake and treatment for heart failure, approximately one-half of all ACM cases showed LVEF recovery irrespective of TTNtv status, with no detectable difference in event-free survival between the two groups, Garcia-Pavia and colleagues noted.

Their study compared patients with alcoholic cardiomyopathy recruited from six Spanish hospitals (n=141), consecutive DCM patients enrolled in the Royal Brompton Hospital Cardiovascular Research Centre Biobank (n=716), and healthy controls who answered an advertisement to join the U.K. Digital Heart Project at Imperial College London (n=445).

Relying on patients to self-report their alcohol consumption was one major limitation of the analysis, another was the lack of a control group that drank excessively without developing ACM.

"It is estimated that mutations in TTNtv genes may account for 20% to 25% of familial DCM cases. Even though other genetic mutations may give rise to DCM, focusing on TTNtv and the other sarcomeric genes was an excellent starting point," commented Mariann Piano, PhD, of Vanderbilt University School of Nursing in Nashville, Tennessee, in an .

"There are no specific histological, immunological, or biomarkers for the diagnosis of ACM. A key factor in ruling in ACM is a long-term history of heavy alcohol consumption in the absence of coronary artery disease. A number of pathophysiologic mechanisms have been linked to the development of ACM; however, one of the most important unresolved questions has been related to how certain genetic mutations may influence susceptibility to ACM," Piano wrote.

She noted that 15.5% of DCM patients in the study drank excessively, suggesting the need to counsel DCM patients about alcohol use.