ARVD4, A NEW LOCUS FOR ARRHYTHMOGENIC RIGHT-VENTRICULAR CARDIOMYOPATHY, MAPS TO CHROMOSOME-2 LONG ARM

Autosomal dominant arrhythmogenic right ventricular dysplasia (ARVD; M IM 107970) is a genetically heterogeneous cardiomyopathy, which often causes sudden death in juveniles and athletes. Two disease loci were p reviously mapped respectively to 14q23-q24 (ARVD1) and to 1q42-q43 (AR VD2). A third possible locus was assigned to 14q12-q22. We report here on a linkage study performed on three independent families with recur rence of ARVD characterized by localized involvement of the left ventr icle. In these families the disease appears to be transmitted with thr ee polymorphic DNA markers of the chromosome 2 long arm, showing a max imum lod score of 3.46 at theta = 0 for the marker D2S152. The multipo int Linkage analysis suggests that the novel ARVD locus, provisionally named ARVD4, maps to 2q32.1-q32.3, within the chromosomal region incl uding markers D2S152, D2S103, and D2S389. (C) 1997 Academic Press.