title: Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing.
abstract: Sudden death, ventricular arrhythmia and heart failure are common features in arrhythmogenic right-ventricular cardiomyopathy (ARVC), an inheritable heart muscle disease, characterized by clinical and genetic heterogeneity. So far, 13 disease genes have been identified, responsible for around 60% of all ARVC cases. In this review, we summarize the main clinical and pathological aspects of ARVC, focusing on the importance of the genetic testing and the application of the new sequencing techniques referred to next generation sequencing technology.
authors.affiliation: aDepartment of Biology, University of Padua, Padua, Italy bDepartment of Cardiology, School for Cardiovascular Diseases, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, the Netherlands.
authors.forename: Giulia
authors.initials: G
authors.lastname: Poloni
authors.forename: Marzia
authors.initials: M
authors.lastname: De Bortoli
authors.forename: Martina
authors.initials: M
authors.lastname: Calore
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rampazzo
authors.forename: Alessandra
authors.initials: A
authors.lastname: Lorenzon
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D016757:Death, Sudden, Cardiac / Q000209:etiology; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods*; D006801:Humans; D009154:Mutation