Recent advances in molecular genetics of arrhythmogenic right ventricular cardiomyopathy (ARVD) are reviewed. In particular, the finding of mutations in the gene coding for cardiac ryanodine receptor (hRYR2), both in patients affected with ARVD2 and in patients affected with catecholaminergic ventricular arrhythmias or with familial ventricular tachyarrhythmia, is discussed. Novel data support the hypothesis that apoptosis may be a key step in molecular pathogenesis of ARVDs. A series of studies on drugs with apparent protective effect against apoptosis in myocardial cells might open new perspectives in the therapeutic approach.
Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy
DANIELI, GIAN ANTONIO;RAMPAZZO, ALESSANDRA
2002
Abstract
Recent advances in molecular genetics of arrhythmogenic right ventricular cardiomyopathy (ARVD) are reviewed. In particular, the finding of mutations in the gene coding for cardiac ryanodine receptor (hRYR2), both in patients affected with ARVD2 and in patients affected with catecholaminergic ventricular arrhythmias or with familial ventricular tachyarrhythmia, is discussed. Novel data support the hypothesis that apoptosis may be a key step in molecular pathogenesis of ARVDs. A series of studies on drugs with apparent protective effect against apoptosis in myocardial cells might open new perspectives in the therapeutic approach.
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