Clinical interpretation of genetic variants in arrhythmogenic right ventricular cardiomyopathy

• Published in: Clinical research in cardiology Vol. 104; no. 4; pp. 288 - 303
• Main Authors: Alcalde, Mireia, Campuzano, Oscar, Sarquella-Brugada, Georgia, Arbelo, Elena, Allegue, Catarina, Partemi, Sara, Iglesias, Anna, Oliva, Antonio, Brugada, Josep, Brugada, Ramon
• Format: Journal Article
• Language: English
• Published: Berlin/Heidelberg Springer Berlin Heidelberg 01.04.2015; Springer Nature B.V
• Subjects: Arrhythmogenic Right Ventricular Dysplasia - diagnosis; Arrhythmogenic Right Ventricular Dysplasia - genetics; Cardiology; Desmoglein 2; Genetic Markers - genetics; Genetic Predisposition to Disease - genetics; Genetic Testing - methods; Genetic Variation - genetics; Humans; Medicine; Medicine & Public Health; Plakophilins - genetics; Review; Pathogenicity; Genetics; Sudden cardiac death; Arrhythmogenic right ventricular cardiomyopathy/dysplasia
• ISSN: 1861-0684; 1861-0692
• DOI: 10.1007/s00392-014-0794-z

Arrhythmogenic right ventricular cardiomyopathy is an inherited cardiac entity characterized by right ventricular, or biventricular, fibrofatty replacement of myocardium. Structural alterations may lead to sudden cardiac death, mainly in young males during exercise. Autosomal dominant pattern of inheritance is reported in most parts of pathogenic genetic variations identified. Currently, 13 genes have been associated with the disease but nearly 40 % of clinically diagnosed cases remain without a genetic diagnosis. New genetic technologies allow further genetic analysis, generating a significant amount of genetic data in novel genes, which is often classified as of ambiguous significance. We focus on genetic advances of arrhythmogenic right ventricular cardiomyopathy, helping clinicians to interpret and translate genetic data into clinical practice.