title: Genetics of arrhythmogenic right ventricular cardiomyopathy.
abstract: 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.
authors.affiliation: Department of Medicine, Cardiovascular Genetics Center, Institut d'Investigació Biomèdica Girona-IDIBGI, C/Pic de Peguera 15, Girona 17003, Spain.
authors.forename: Oscar
authors.initials: O
authors.lastname: Campuzano
authors.forename: Mireia
authors.initials: M
authors.lastname: Alcalde
authors.forename: Catarina
authors.initials: C
authors.lastname: Allegue
authors.forename: Anna
authors.initials: A
authors.lastname: Iglesias
authors.forename: Pablo
authors.initials: P
authors.lastname: García-Pavía
authors.forename: Sara
authors.initials: S
authors.lastname: Partemi
authors.forename: Antonio
authors.initials: A
authors.lastname: Oliva
authors.forename: Vincenzo L
authors.initials: VL
authors.lastname: Pascali
authors.forename: Paola
authors.initials: P
authors.lastname: Berne
authors.forename: Georgia
authors.initials: G
authors.lastname: Sarquella-Brugada
authors.forename: Josep
authors.initials: J
authors.lastname: Brugada
authors.forename: Pedro
authors.initials: P
authors.lastname: Brugada
authors.forename: Ramon
authors.initials: R
authors.lastname: Brugada
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D003896:Desmosomes / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005826:Genetics, Medical / Q000379:methods* / Q000639:trends*; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D009154:Mutation / Q000235:genetics; D010641:Phenotype; D018570:Risk Assessment / Q000379:methods