Megumi Fukuyama, Minoru Horie, Koichi Kato, Hisaaki Aoki, Shuhei Fujita, Yoko Yoshida, Hisanori Sakazaki, Takako Toda, Michihiko Ueno, Gaku Izumi, Nobuo Momoi, Jun Muneuchi, Takeru Makiyama, Yoshihisa Nakagawa, Seiko Ohno
BACKGROUND: Cardiac calmodulinopathy, characterized by a life-threatening arrhythmia and sudden death in the young, is extremely rare and caused by genes encoding calmodulin, namely calmodulin 1 (CALM1), CALM2, and CALM3.Methods and Results: We screened 195 symptomatic children (age 0-12 years) who were suspected of inherited arrhythmias for 48 candidate genes, using a next-generation sequencer. Ten probands were identified as carrying variants in any of CALM1-3 (5%; median age 5 years), who were initially diagnosed with long QT syndrome (LQTS; n=5), catecholaminergic polymorphic ventricular tachycardia (CPVT; n=3), and overlap syndrome (n=2)...
June 28, 2023: Circulation Journal: Official Journal of the Japanese Circulation Society