This review highlights the clinical and pathological aspects of ARVC, emphasizing the role of genetic testing and next-generation sequencing in identifying the genetic basis of the disease.
Supports targeted genetic testing in ARVC; leaves open identification of additional genes in remaining cases.
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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Poloni et al. (2016) studied this question.
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