Open AccessNovel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks
Author(s) -
Nieves GómezHurtado,
Nicole J. Boczek,
Dmytro O. Kryshtal,
Christopher N. Johnson,
Jennifer S. Sun,
Florentin R. Nitu,
Rǎzvan L. Cornea,
Walter Chazin,
Melissa L. Calvert,
David J. Tester,
Michael J. Ackerman,
Björn C. Knollmann
Publication year - 2016
Publication title -
circulation arrhythmia and electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.684
H-Index - 102
eISSN - 1941-3149
pISSN - 1941-3084
DOI - 10.1161/circep.116.004161
Subject(s) - catecholaminergic polymorphic ventricular tachycardia , ryanodine receptor , ryanodine receptor 2 , calmodulin , afterdepolarization , medicine , mutation , endocrinology , long qt syndrome , biology , phenotype , qt interval , receptor , genetics , gene , calcium , electrophysiology , repolarization
Calmodulin (CaM) mutations are associated with severe forms of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). CaM mutations are found in 13% of genotype-negative long QT syndrome patients, but the prevalence of CaM mutations in genotype-negative CPVT patients is unknown. Here, we identify and characterize CaM mutations in 12 patients with genotype-negative but clinically diagnosed CPVT.
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