在KCNH2突变的儿童中,Torsades de Pointes电风暴
Li Zhang1, Meng Xu1, Zhen Yan1
1Department of Cardiology, Shanghai Children's Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200062, China.
BMC medical genomics
|October 11, 2024
概括
两名患有先天性长QT综合征 (LQTS) 的儿童被误诊为. 基因检测揭示了KCNH2突变,突出了耐性病例需要进行心脏评估的必要性.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 儿科 儿科 儿科
背景情况:
- 先天性长QT综合征 (LQTS) 是一种遗传性疾病,导致危险的心律不整,特别是在儿童中.
- 将LQTS误诊为可以推迟关键治疗,导致严重的心脏事件,如Torsades de Pointes (TdP) 和电风暴 (ES).
研究的目的:
- 报告两例儿科LQTS病例被误诊为.
- 确定与这些病例相关的遗传突变,并突出心脏电风暴 (ES) 的风险因素.
- 强调心血管评估在患有耐火性的儿童的重要性.
主要方法:
- 整个外体序列测序 (WES) 用于识别遗传突变.
- 分析了临床数据,包括心电图 (QT 间隔,T 波模式) 的发现.
- 检查了患者诊断错误和心脏事件的病史.
主要成果:
- 两名儿童,一个6岁男孩和一个13岁女孩,被发现具有明显的KCNH2突变 (c.1841 C>T和c.1838 C>T).
- 两位患者都表现出显著延长的QT间隔和在特定的ECG线索中反转的T波模式.
- 这些发现强调了KCNH2突变,QT延长和T波逆转作为LQTS中ES的关键风险因素.
结论:
- 患有的患者,特别是具有异常特征的耐火病例,需要进行彻底的心血管评估.
- 早期发现KCNH2突变和相关的心电图异常对于预防危及生命的心律失常至关重要.
- 对于ES的LQTS的治疗可能涉及纳多洛尔,左心交感缩,以及潜在的可植入心脏转换器-除器 (ICD).
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