Once the condition has been diagnosed, it can be treated by implanting a defibrillator to maintain a normal heartbeat.
The test is still being validated in an international research network, but "at some point in the relatively near future, we expect to apply to the U.S. Food and Drug Administration for its use as a clinical test," Saffitz said. That application will be made "in the next year or so," he said.
ARVC usually is the result of an inherited genetic mutation. But about a third of cases occur in people with no family history but who have a mutated form of the plakoglobin gene, Saffitz said.
Candidates for the test include young people in a family where someone has been diagnosed with the condition, Saffitz said, but also "young people who have signs or symptoms of arrhythmia, who pass out and recover, who often feel lightheaded and go to a primary care doctor because of that."
Family doctors usually refer such people to large medical centers, where the current battery of tests can be done, Saffitz said. "Many will not have ARVC," he said. "It would be useful to have a simple test that can help decide whether they have it or not."
Dr. Frank Marcus, professor emeritus of medicine at the University of Arizona and an authority on ARVC, said, "I have been following this work carefully and am most enthusiastic about the possibility of making an accurate diagnosis in this disease, which has been very difficult to diagnose with a high degree of certainty." Marcus was a leader of the group that first described the condition in 1982.
Obtaining a tissue sample from the heart is "an invasive procedure with a small but definite risk," Marcus noted. "Nevertheless, if the results can be confirmed by others or by these investigators in a larger series of patients in the early stages of the di
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