Abstract
Mutations in the desmosomal protein desmocollin-2 (DSC2) have been associated with Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC). The c.1660C>T (p.Q554X) mutation in DSC2 is prevalent in ∼10% of the Hutterite population, an isolated population who are descendants from less than 100 founders. Homozygosity of this mutation is associated with an arrhythmogenic cardiomyopathy involving both the right and left ventricles. However, the natural history, phenotypic features and prognosis of heterozygote carriers is incompletely understood.
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