A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43 |
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| Authors: | Rampazzo, Alessandra Nava, Andrea Erne, Paul Eberhard, Marc Vian, Elisa Slomp, Paola Tiso, Natascia Thiene, Gastano Danieli, Gian Antonio |
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| Affiliation: | Department of Biology, University of Padua Italy 1Department of Cardiology, University of Padua Italy 2Division of Cardiology, Kantonsspital Luzern 3Department of Research, University Hospital Basel, Switzerland 4Department of Pathology, University of Padua Italy |
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| Abstract: | Autosomal dominant arrhythmogenic right ventricular cardiomyopathy(ARVD, MIM 107970[OMIM]) is one of the major causes of juvenile suddendeath. We have previously assigned the disease locus to chromosome14q23q24. Here we report on a novel variant of ARVD,which is transmitted associated to 1q42q43 and is characterizedby a concealed form, showing effort-induced polymorphic tachycardias.Since both loci ARVD1 and ARVD2 map in proximity of a-actiningenes, the possible implication of these myofibrillar proteinsin the pathogenesis of ARVD is discussed. Two additional ARVDfamilies, tested with markers of chromosomes 1q42q43and 14q23q24, failed to show linkage, providing evidenceof further genetic heterogeneity. |
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