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© 1994 Oxford University Press

OTHER

The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23–q24

Alessandra Rampazzo, Andrea Nava1, Gian A. Danieli*, Gianfranco Buja1, Luciano Daliento1, Giuseppe Fasoli1, Roldano Scognamiglio1, Domenico Corrado2 and Gaetano Thlene2

Department of Biology, University of Padua via Trieste 75, 35121 Padua, Italy 1Department of Cardiology University of Padua via Trieste 75, 35121 Padua, Italy 2Department of Pathology, University of Padua via Trieste 75, 35121 Padua, Italy

*To whom correspondence should be addressed

Received February 28, 1994; Revised April 6, 1994; Accepted April 6, 1994

Arrhythmogenic right ventricular cardiomyopathy/dys-plasia (ARVD) is a dominantly inherited disorder progressively affecting the myocardium and it is one of the major causes of juvenile sudden death. The chromosomal localization of the disease gene is reported here for the first time. A maximum lod score of 6.04 was obtained at {theta} = 0 for linkage with the polymorphic marker D14S42 (14q23–q24) in two families, one of which has 82 subjects (19 affected) in four generations. The pre-symptomatic identification of ARVD carriers by linkage analysis in the affected families strongly increases the possibility of prevention of life-threatening complications.


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