Non-missense variants of KCNH2 show better outcomes in type 2 long QT syndrome.

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作者： Takanori,Aizawa ^[1] ; Yuko,Wada ^[2] ; Kanae,Hasegawa ^[3] ; Hai,Huang ^[3] ; Tomohiko,Imamura ^[4] ; Jingshan,Gao ^[1] ; Asami,Kashiwa ^[1] ; Hirohiko,Kohjitani ^[1] ; Megumi,Fukuyama ^[1] ; Koichi,Kato ^[1] ; Eri Toda,Kato ^[2] ; Takashi,Hisamatsu ^[2] ; Seiko,Ohno ^[1] ; Takeru,Makiyama ^[5] ; Takeshi,Kimura ^[6] ; Minoru,Horie ^[1]

作者单位： Department of Cardiovascular Medicine, Kyoto University Graduate School of Medicine, Kyoto, Japan. ^[1] Department of Cardiovascular Medicine, Shiga University of Medical Science, Setatsukinowacho, Otsu, Shiga 520-2192, Japan. ^[2] Department of Medicine, Vanderbilt University Medical Center, 2215B Garland Ave, 1275 MRBIV, Nashville, TN 37232, USA. ^[3] Department of Cardiovascular Medicine, Faculty of Medical Sciences, University of Fukui, Fukui, Japan. ^[4] Department of Public Health, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Science, Okayama, Japan. ^[5] Department of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Osaka, Japan. ^[6] Division of Cardiology, Hirakata Kohsai Hospital, Osaka, Japan. ^[7]

关键词 KCNH2 Arrhythmia Long QT syndrome Molecular mechanism Prognosis

主题词人类(Humans);QT延长综合征(Long QT Syndrome);突变, 误义(Mutation, Missense);基因检测(Genetic Testing);心律失常, 心性(Arrhythmias, Cardiac)

DOI 10.1093/europace/euac269

PMID 36861347

发布时间 2023-05-08

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