RT Journal Article
SR Electronic
T1 Genetics of arrhythmogenic right ventricular cardiomyopathy
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 280
OP 289
DO 10.1136/jmedgenet-2013-101523
VO 50
IS 5
A1 Campuzano, Oscar
A1 Alcalde, Mireia
A1 Allegue, Catarina
A1 Iglesias, Anna
A1 García-Pavía, Pablo
A1 Partemi, Sara
A1 Oliva, Antonio
A1 Pascali, Vincenzo L
A1 Berne, Paola
A1 Sarquella-Brugada, Georgia
A1 Brugada, Josep
A1 Brugada, Pedro
A1 Brugada, Ramon
YR 2013
UL http://jmg.bmj.com/content/50/5/280.abstract
AB 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 identified in 12 genes, mainly with autosomal dominant inheritance. Here, we focus on recent advances in the genetics of arrhythmogenic right ventricular cardiomyopathy. Despite continuous improvements, current genotype–phenotype studies have not contributed yet to establish a genetic risk stratification of the disease.