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J Cardiovasc Med (Hagerstown). 2016 Jun;17(6):399-407. doi: 10.2459/JCM.0000000000000385.

Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing.

Author information

1
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.

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.

PMID:
26990921
DOI:
10.2459/JCM.0000000000000385
[Indexed for MEDLINE]

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