Open AccessExon 3 deletion of RYR2 encoding cardiac ryanodine receptor is associated with left ventricular non-compaction
Author(s) -
Seiko Ohno,
Masato Omura,
Masataka Kawamura,
Hiromi Kimura,
Hideki Itoh,
Takeru Makiyama,
Hiroya Ushinohama,
Naomasa Makita,
Minoru Horie
Publication year - 2014
Publication title -
europace
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.119
H-Index - 102
eISSN - 1532-2092
pISSN - 1099-5129
DOI - 10.1093/europace/eut382
Subject(s) - catecholaminergic polymorphic ventricular tachycardia , proband , multiplex ligation dependent probe amplification , ryanodine receptor 2 , exon , left ventricular noncompaction , medicine , cardiomyopathy , genetics , heart failure , ryanodine receptor , cardiology , mutation , biology , gene , receptor
Ryanodine receptor gene (RYR2) mutations are well known to cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Recently, RYR2 exon 3 deletion has been identified in patients with dilated cardiomyopathy (DCM) and/or CPVT. This study aimed to screen for the RYR2 exon 3 deletion in CPVT probands, characterize its clinical pathology, and confirm the genomic rearrangement.