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

Giulia Poloni, Marzia De Bortoli, Martina Calore, Alessandra Rampazzo*, Alessandra Lorenzon

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

11 Citations (Web of Science)

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.
Original languageEnglish
Pages (from-to)399-407
JournalJournal of Cardiovascular Medicine
Volume17
Issue number6
DOIs
Publication statusPublished - Jun 2016

Keywords

  • arrhythmia
  • cardiomyopathy
  • genetic diagnosis
  • next generation sequencing
  • sudden death

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