Open AccessGenetic Background of Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Time to Start Asian Registry!
Author(s) -
Horie Minoru,
Ishida Katsuya,
Nishio Yukiko,
Nagaoka Iori,
Matsui Keiji
Publication year - 2008
Publication title -
journal of arrhythmia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.463
H-Index - 21
eISSN - 1883-2148
pISSN - 1880-4276
DOI - 10.1016/s1880-4276(08)80028-2
Subject(s) - arrhythmogenic right ventricular dysplasia , medicine , penetrance , cardiology , plakoglobin , cardiomyopathy , brugada syndrome , ventricle , ventricular tachycardia , implantable cardioverter defibrillator , phenotype , genetics , heart failure , gene , wnt signaling pathway , biology , catenin
Arrhythmogenic right venticular dysplasia/cardiomyopathy (ARVD/C) is an inherited cardiomyopathy with a very low penetrance affecting the right ventricle (RV) and presenting palpitation and syncope due to ventricular tachycardia (VT) originating from RV. The VT can degenerate into ventricular fibrillation and sudden cardiac death. The genetic background of ARVD/C has recently been found to be heterogeneous, mainly resulting from cell adhesion abnormalities due to mutations in five different genes encoding members of the desmosome complex. In Asian countries, however, the genetic aspect of the disease has not been fully studied, although the clinical features of Asian ARVD/C patients are different from those in Western countries in the penetrance of phenotypes, relation to Brugada syndrome and link to RV outflow tract ventricular tachycardia. It is of urgent need to have a registry of Asian ARVD/C patients and to conduct a more detailed genetic survey on the candidate genes, including desomosomal ones.