Gene Identified For Heart Defect That Causes Sudden Death In Young People

DALLAS, Dec. 22 -- A gene for an inherited heart disorder that accounts for a significant number of sudden deaths and heart failure in young people has been located -- or mapped -- by U.S. and Canadian researchers, who report their research in today's Circulation: Journal of the American Heart Association. The gene, found on chromosome 3, is responsible for a heart condition called arrhythmogenic right ventricular dysplasia (ARVD), says the study's lead author, Robert Roberts, M.D., professor of medicine and cell biology at Baylor College of Medicine in Houston.

"It should be possible to isolate and clone -- or reproduce -- the gene and identify the mutation within two years," says Roberts. Cloning the ARVD gene should help scientists better understand this puzzling heart disorder, Roberts says. It should also offer important insights into broader questions regarding sudden-death heart attacks -- in which death occurs within hours -- and heart failure, a severe weakening of the heart's ability to pump blood.

Roberts and his colleagues located the ARVD gene by studying the genetic family tree of a North American family through seven generations. They had information on more than 200 members of the family, including 10 who were living and diagnosed with ARVD. They obtained blood samples from 149 family members of the 10 living individuals and linked the mutant gene that causes ARVD in the family to chromosome 3.

ARVD strikes about 1 in 5,000 people and accounts for about 15 percent of sudden deaths in young people, say researchers. It is an autosomal dominant disease, which means a person needs to inherit a defective gene from only one parent to develop the disorder. Children and young adults with ARVD have a 2.5 percent chance of dying in any year.

The disease is difficult to diagnose. Often, the first symptom of ARVD is death, triggered by erratic heartbeats called arrhythmias. Those who do not suffer sudden death develop symptoms of heart

Contact: Brian Henry
American Heart Association

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