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

Rampazzo, Alessandra ; Nava, Andrea ; Erne, Paul ; Eberhard, Marc ; Vian, Elisa ; Slomp, Paola ; Tiso, Natascia ; Thiene, Gastano ; Danieli, Gian Antonio

In: Human Molecular Genetics, 1995, vol. 4, no. 11, p. 2151-2154

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    Title
    • A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43
    Author
    • Rampazzo, Alessandra. Department of Biology, University of Padua Italy
    • Nava, Andrea. Department of Cardiology, University of Padua Italy
    • Erne, Paul. Division of Cardiology, Kantonsspital Luzern
    • Eberhard, Marc. Department of Research, University Hospital Basel, Switzerland
    • Vian, Elisa. Department of Biology, University of Padua Italy
    • Slomp, Paola. Department of Biology, University of Padua Italy
    • Tiso, Natascia. Department of Biology, University of Padua Italy
    • Thiene, Gastano. Department of Pathology, University of Padua Italy
    • Danieli, Gian Antonio. Department of Biology, University of Padua Italy
    Document Type
    • Postprint
    Language
    • English
    Published in
    • Human Molecular Genetics, 1995, vol. 4, no. 11, p. 2151-2154. Oxford University Press
    Other Version
    OAI-PMH Identifier
    • oai:doc.rero.ch:298594
    Summary
    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 a-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