A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.
Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes of juvenile sudden death. We have previously assigned the disease locus to chromosome 14q23-q24. Here we report on a novel variant of ARVD, which is transmitted associated to 1q42-q43 and is characterized by a concealed form, showing effort-induced polymorphic tachycardias. Since both loci ARVD1 and ARVD2 map in proximity of alpha-actinin genes, the possible implication of these myofibrillar proteins in the pathogenesis of ARVD is discussed. Two additional ARVD families, tested with markers of chromosomes 1q42-q43 and 14q23-q24, failed to show linkage, providing evidence of further genetic heterogeneity.
Rampazzo
A
A
Department of Biology, University of Padua, Italy.
Nava
A
A
Erne
P
P
Eberhard
M
M
Vian
E
E
Slomp
P
P
Tiso
N
N
Thiene
G
G
Danieli
G A
GA
D000185:Actinin / Q000235:genetics; D001145:Arrhythmias, Cardiac / Q000235:genetics*; D009202:Cardiomyopathies / Q000235:genetics*; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D018497:Ventricular Dysfunction, Right / Q000235:genetics*
D000185:Actinin