Article
Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1.
Heart (British Cardiac Society) - 12 May 2022
Shimamoto Keiko, Ohno Seiko, Kato Koichi, Takayama Koichiro, Sonoda Keiko, Fukuyama Megumi, Makiyama Takeru, Okamura Satomi, Asakura Koko, Imanishi Noriaki, Kato Yoshiaki, Sakaguchi Heima, Kamakura Tsukasa, Wada Mitsuru, Yamagata Kenichiro, Ishibashi Kohei, Inoue Yuko, Miyamoto Koji, Nagase Satoshi, Kusano Kengo, Horie Minoru, Aiba Takeshi
Abstract excerpt
OBJECTIVE: Human cardiac ryanodine receptor 2 (RYR2) shows autosomal-dominant inheritance in catecholaminergic polymorphic ventricular tachycardia type 1 (CPVT1); however, de novo variants have been observed in sporadic cases. Here, we investigated CPVT1-related RYR2 variant inheritance and its clinical significance between familial and de novo cases. METHODS: We enrolled 82 independent CPVT1 probands (median...
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