Impact of cascade screening for catecholaminergic polymorphic ventricular tachycardia type 1

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 clin...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Arrhythmias and Sudden Death
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120385/
https://www.ncbi.nlm.nih.gov/pubmed/35135837
http://dx.doi.org/10.1136/heartjnl-2021-320220

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9120385/
https://www.ncbi.nlm.nih.gov/pubmed/35135837
http://dx.doi.org/10.1136/heartjnl-2021-320220

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