title: Genetics of arrhythmogenic right ventricular cardiomyopathy.
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.
authors.affiliation: Human Molecular Genetics Unit, Department of Biology, University of Padua, Italy. danieli@bio.unipd.it
authors.forename: Gian Antonio
authors.initials: GA
authors.lastname: Danieli
authors.forename: Alessandra
authors.initials: A
authors.lastname: Rampazzo
mesh_terms: D019571:Arrhythmogenic Right Ventricular Dysplasia / Q000235:genetics*; D005192:Family Health; D005815:Genetic Code / Q000235:genetics; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D009154:Mutation / Q000235:genetics; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel