Another Gene Implicated in Arrhythmogenic RV Dysplasia

Arrhythmogenic right-ventricular dysplasia (ARVD), an inherited cardiomyopathy, is characterized clinically by ventricular arrhythmias and RV dysfunction, and pathologically by fibrofatty replacement of the RV myocardium. Of seven genes previously implicated in ARVD, five encode desmosomal proteins responsible for mechanical cell-to-cell coupling. Now, researchers have implicated another mutation in a desmosomal gene, desmoglein-2 (DSG2).

Of 80 probands with ARVD, 26 (33%) had mutations in three previously identified ARVD-causing genes: desmoplakin, plakophilin-2, and transforming growth factor-β3. Of the remaining 54 patients, 8 had a DSG2 mutation. Biopsy, performed in 5 of these patients, confirmed typical ARVD. Electron microscopy evalua…