According to scientists at Johns Hopkins University, about a dozen genetic mutations in a gene called plakophilin-2 (PKP2) are linked to arrhythmogenic right ventricular dysplasia (ARVD). ARVD is a dangerous condition that runs in families, and is among the leading causes of sudden death in young athletes.

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The finding may soon lead to a blood test to screen for the problem, the researchers said.

ARVD is marked by a poorly functioning right cardiac ventricle that beats irregularly. Over time, a build-up of excess fat and scar tissue weakens the muscle. Untreated ARVD can cause a fatal heart rhythm irregularity.

Mutations in almost half of patients
The Hopkins team conducted genetic analyses of 58 people with ARVD, and found some combination of PKP2 mutations in 43 percent of patients.

"We believe we have pinpointed the genetic mutations responsible for the syndrome in many people, and we expect to have a blood test to identify those at risk of developing ARVD clinically available within the next couple of months," study senior author and cardiac geneticist Dr Daniel P. Judge said in a prepared statement.

The findings were published online February 20 in Circulation.

Judge said it makes sense to screen close family members of people who've been diagnosed with ARVD. However, he noted that the presence of the mutations does not predict the risk of fatal arrhythmia or the need for preventive therapy, such as an implanted defibrillator. – (HealthDayNews)

Visit our Heart Centre for more information.

February 2006
 

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