ARRHYTHMOGENIC RIGHT-VENTRICULAR DYSPLASIA AND ANTERIOR POLAR CATARACT

Arrythmogenic right ventricular dysplasia (ARVD) is an autosomal domin ant inherited cardiomyopathy with incomplete penetrance and variable e xpressivity, Recently, the gene was mapped to 14q23-24, It is being in creasingly investigated as a major cause of sudden death at a young ag e, Anterior polar cataract (APC) is a rare hereditary form of lens opa city. The locus for an APC gene was located tentatively on 14q24qter. We describe a patient with a severe form of ARVD in whom asymptomatic APC was detected by an ophthalmologic examination, His sister had ARVD and similar cataracts. Parents were second cousins but were healthy. This is the first report of possible autosomal recessive inheritance o f ARVD, This is also the first time that the combination of ARVD and A PC is reported, Three possibilities may explain this concurrence: plei otropy, contiguous gene syndrome, or coincidence, Our findings suggest placement of an APC gene at 14q23-24. (C) Wiley-Liss, Inc.