Jefferson scientist links gene to alcoholic's vulnerability to heart failure

Some alcoholics can drink mostly what they want and their hearts stay perfectly fine. For others, chronic alcoholism can have devastating effects, including a form of heart failure known as cardiomyopathy. Now, researchers at Jefferson Medical College in Philadelphia and Hospital Clinic in Barcelona have pinpointed what they think may help explain such disparities.

They have found that alcoholics who carry a certain form of a particular enzyme are more likely than other alcoholics who don't have the form to develop heart failure, even when both groups have drunk the same amount of alcohol over a lifetime.

"It's the first real demonstration of genetic vulnerability to alcohol-induced tissue damage in the heart," says Emanuel Rubin, M.D., professor and chair of pathology, anatomy and cell biology at Jefferson Medical College of Thomas Jefferson University in Philadelphia.

The findings open up the possibility for uncovering other such genetic predispositions for a number of alcohol-related diseases. "Chronic alcoholism is associated with diseases of many organs, such as the liver and the brain - not just the heart," he notes.

Dr. Rubin and his colleagues at the University of Barcelona report their findings September 3 in the Annals of Internal Medicine.

According to Dr. Rubin, between 15 and 40 percent of cases in the Western world of cardiomyopathy, a degenerative disease of the heart muscle, occur in alcoholics. He and his co-workers had previously shown that its occurrence is related to total lifetime intake of alcohol.

In alcoholics who develop cardiomyopathy, the more alcohol they drink, the weaker the heart is, Dr. Rubin explains. The heart's strength is measured by its "ejection fraction," or proportion of blood being pushed out of the heart. Weaker hearts have lower ejection fractions.

"You can attribute about a third of that weakening effect directly to the quantity of alcohol consumed," he says. "So maybe 60 percent o

Contact: Phyllis Fisher
Thomas Jefferson University

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