PT  - JOURNAL ARTICLE
AU  - Campuzano, Oscar
AU  - Alcalde, Mireia
AU  - Allegue, Catarina
AU  - Iglesias, Anna
AU  - García-Pavía, Pablo
AU  - Partemi, Sara
AU  - Oliva, Antonio
AU  - Pascali, Vincenzo L
AU  - Berne, Paola
AU  - Sarquella-Brugada, Georgia
AU  - Brugada, Josep
AU  - Brugada, Pedro
AU  - Brugada, Ramon
TI  - Genetics of arrhythmogenic right ventricular cardiomyopathy
AID  - 10.1136/jmedgenet-2013-101523
DP  - 2013 May 01
TA  - Journal of Medical Genetics
PG  - 280--289
VI  - 50
IP  - 5
4099  - http://jmg.bmj.com/content/50/5/280.short
4100  - http://jmg.bmj.com/content/50/5/280.full
SO  - J Med Genet2013 May 01; 50
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.