FRIDAY, Feb. 24, 2006 (HealthDay News) -- A rare, often fatal heart condition in young athletes could have its roots in a group of mutations in one gene, new research suggests.
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.
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 buildup of excess fat and scar tissue weakens the muscle. Untreated ARVD can cause a fatal heart rhythm irregularity.
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 Feb. 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.
ARVD accounts for about 5 percent of the 300,000 sudden cardiac deaths each year in the United States, according to the researchers and the Heart Rhythm Society.
More information
The Heart Rhythm Society has more about sudden cardiac death.
