TY - JOUR
T1 - Arrhythmogenic right-ventricular cardiomyopathy: molecular genetics into clinical practice in the era of next generation sequencing
AU - Poloni, Giulia
AU - De Bortoli, Marzia
AU - Calore, Martina
AU - Rampazzo, Alessandra
AU - Lorenzon, Alessandra
PY - 2016/6
Y1 - 2016/6
N2 - 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.
AB - 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.
KW - arrhythmia
KW - cardiomyopathy
KW - genetic diagnosis
KW - next generation sequencing
KW - sudden death
U2 - 10.2459/JCM.0000000000000385
DO - 10.2459/JCM.0000000000000385
M3 - Article
C2 - 26990921
SN - 1558-2027
VL - 17
SP - 399
EP - 407
JO - Journal of Cardiovascular Medicine
JF - Journal of Cardiovascular Medicine
IS - 6
ER -