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

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

  1. University of Padua
  2. Ricerca Sanitaria Finalizzata (Veneto Region)
  3. University of Padua research project (PRAT) [CPDA133979]

向作者/读者索取更多资源

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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