Promises to make diagnosis simpler for disease than can strike younger adults
WEDNESDAY, March 11 (HealthDay News) -- Researchers are reporting a promising new test for quick diagnosis of a rare but potentially deadly heart condition that is a leading cause of sudden death in young people.
The disease is arrhythmogenic right ventricular cardiomyopathy (ARVC), in which a genetic flaw causes the muscle cells of one of the heart's main pumping centers to be replaced by fatty deposits. The end result can be a sudden loss of regular heartbeat that is often fatal.
ARVC affects about one in 5,000 people worldwide, said study senior author Dr. Jeffrey E. Saffitz, chairman of pathology at Beth Israel Deaconess Medical Center in Boston. "Most cardiologists with active practices have seen cases of it," he said.
ARVC is more common in Mediterranean populations. It is the leading cause of sudden cardiac death among Italians under the age of 35, according to background information in the study, published in the March 12 issue of the New England Journal of Medicine.
Diagnosis of ARVC now requires a battery of tests, including an electrocardiogram, an echocardiogram and a magnetic resonance imaging procedure, Saffitz said. But with all those tests, "you have to have pretty advanced disease for it to show up," he said. "People who have the disease that is not advanced and not overtly manifest are still at risk of sudden death."
The new test looks for abnormally low levels of a protein called plakoglobin, an essential component of the structures that bind heart cells together so they beat in rhythm. Laboratory studies by Saffitz and his colleagues identified low levels of plakoglobin as a possible marker for ARVC, and the new study was designed to verify that possibility.
It did -- comparing heart tissue biopsies from 11 people with ARVC and 10 people with no heart disease. "All ARVC samples but
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