Arrhythmogenic Right Ventricular Dysplasia, Familial, 4

For phenotypic information and evidence of genetic heterogeneity in this disorder, see ARVD1 (107970).

Mapping

In studies of 3 families, Rampazzo et al. (1997) mapped a novel ARVD locus to 2q32.1-q32.3, within the chromosomal region including markers D2S152, D2S103, and D2S389. Affected members of the 3 families showed clinical features typical of ARVD according to the diagnostic criteria of McKenna et al. (1994). One family had been previously described by Kirsch et al. (1993). Two instances of juvenile sudden death had occurred and had been found at autopsy to be the result of ARVD. The families were considered unusual in the finding of localized involvement of the left ventricle with left bundle branch block in some affected members.