A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

Hum Mol Genet. 1995 Nov;4(11):2151-4. doi: 10.1093/hmg/4.11.2151.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actinin / genetics
  • Arrhythmias, Cardiac / genetics*
  • Cardiomyopathies / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Female
  • Humans
  • Male
  • Pedigree
  • Ventricular Dysfunction, Right / genetics*

Substances

  • Actinin

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