Sayako Hirose, Takashi Murayama, Naoyuki Tetsuo, Minako Hoshiai, Hiroaki Kise, Masao Yoshinaga, Hisaaki Aoki, Megumi Fukuyama, Yimin Wuriyanghai, Yuko Wada, Koichi Kato, Takeru Makiyama, Takeshi Kimura, Takashi Sakurai, Minoru Horie, Nagomi Kurebayashi, Seiko Ohno
AIMS: Gain-of-function mutations in RYR2, encoding the cardiac ryanodine receptor channel (RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas, genotype-phenotype correlations of loss-of-function mutations remains unknown, due to a small number of analysed mutations. In this study, we aimed to investigate their genotype-phenotype correlations in patients with loss-of-function RYR2 mutations. METHODS AND RESULTS: We performed targeted gene sequencing for 710 probands younger than 16-year-old with inherited primary arrhythmia syndromes (IPAS)...
March 2, 2022: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology