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Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disease in which affected individuals are at high risk for sudden death. The diagnosis of ARVC can be quite difficult to make. Cardiac magnetic resonance imaging, once thought likely to become the gold standard, has not proven to be as specific as was hoped. Cardiac biopsies have limited sensitivity, because areas of abnormal tissue are interlaced with normal-appearing tissue. However, a new test based on the cardiac biopsy might prove to be both more sensitive and more specific than prior tests.
Plakoglobin, a protein that links adhesion molecules at the intercalated disk to the cytoskeleton, is diminished in ARVC compared with both normal hearts and hearts damaged by other…