title: A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43.
abstract: 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.
authors.affiliation: Department of Biology, University of Padua, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Rampazzo
authors.forename: A
authors.initials: A
authors.lastname: Nava
authors.forename: P
authors.initials: P
authors.lastname: Erne
authors.forename: M
authors.initials: M
authors.lastname: Eberhard
authors.forename: E
authors.initials: E
authors.lastname: Vian
authors.forename: P
authors.initials: P
authors.lastname: Slomp
authors.forename: N
authors.initials: N
authors.lastname: Tiso
authors.forename: G
authors.initials: G
authors.lastname: Thiene
authors.forename: G A
authors.initials: GA
authors.lastname: Danieli
mesh_terms: 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*
chemical_list: D000185:Actinin