期刊
JOURNAL OF CARDIOVASCULAR MEDICINE
卷 17, 期 6, 页码 399-407出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.2459/JCM.0000000000000385
关键词
arrhythmia; cardiomyopathy; genetic diagnosis; next generation sequencing; sudden death
资金
- University of Padua
- Ricerca Sanitaria Finalizzata (Veneto Region)
- University of Padua research project (PRAT) [CPDA133979]
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.
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