Article
Genetics of arrhythmogenic right ventricular cardiomyopathy.
Journal of medical genetics - 1 May 2013
Campuzano Oscar, Alcalde Mireia, Allegue Catarina, Iglesias Anna, García-Pavía Pablo, Partemi Sara, Oliva Antonio, Pascali Vincenzo L, Berne Paola, Sarquella-Brugada Georgia, Brugada Josep, Brugada Pedro, Brugada Ramon
Abstract excerpt
Arrhythmogenic right ventricular cardiomyopathy is a rare clinical entity characterised by fibro-fatty replacement of myocardium, mainly involving right ventricular free wall, leading to malignant electrical instability and sudden cardiac death. The disease is inherited in up to 50% of cases, with incomplete penetrance and variable phenotypic expression. To date, more than 300 pathogenic mutations have been...
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