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中华危重症医学杂志(电子版) ›› 2022, Vol. 15 ›› Issue (04) : 343 -344. doi: 10.3877/cma.j.issn.1674-6880.2022.04.017

病例报告

长QT间期综合征携带ANK2基因突变一例并文献复习
徐慧1, 赵燕1, 韩冰1, 李小莉1,()   
  1. 1. 221000 江苏徐州,徐州市中心医院心内科
  • 收稿日期:2021-09-10 出版日期:2022-08-31
  • 通信作者: 李小莉
  • 基金资助:
    江苏省社会发展-重点病种规范化诊疗项目(BE2015624)
  • Received:2021-09-10 Published:2022-08-31
引用本文:

徐慧, 赵燕, 韩冰, 李小莉. 长QT间期综合征携带ANK2基因突变一例并文献复习[J]. 中华危重症医学杂志(电子版), 2022, 15(04): 343-344.

长QT间期综合征(long QT syndrome,LQTS)是一种潜在且致命的心脏离子通道疾病,心电图常表现为QT间期延长。通常由编码离子通道等结构蛋白及相关因子和膜调节蛋白的基因突变造成,近来国外不断有新的突变基因被发现。本研究报告1例LQTS患者携带罕见变异ANK2基因c.9689C > T杂合错义变异(ANK2:p.Thr3230Met het),并分析其诊断依据和治疗方案,以期为临床诊治类似的病例提供一定的参考。

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