Aborted Cardiac Arrest in a Patient Carrying KCNE1 D85N Variant during the Postpartum Period

Aborted Cardiac Arrest in a Patient Carrying KCNE1 D85N Variant during the Postpartum Period
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DOI:
10.2169/internalmedicine.49.3859
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发表时间:
2010-01-01
期刊:
影响因子:
1.2
通讯作者:
Kurabayashi, Masahiko
Kurabayashi, Masahiko
中科院分区:
医学4区
文献类型:
--
作者:
Nakajima, Tadashi;Kaneko, Yoshiaki;Kurabayashi, Masahiko

文献摘要

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产后期与先天性长QT综合征(LQTS)患者发生致命性室性快速性心律失常的风险增加相关。我们描述了一个20岁的女性LQTS谁经历了流产心脏骤停在产后期间。基因筛查发现了一种KCNE1 D85N变异体,据报道这是一种引起LQTS的基因变异体,在患者和她的妹妹中,其QT间期也延长。由于这种变异的等位基因频率几乎为1%,因此澄清这种变异携带者在产后期间是否确实增加了致命性室性快速性心律失常的风险可能很重要。
The postpartum period is associated with an increased risk of fatal ventricular tachyarrhythmias in patients with congenital long QT syndrome (LQTS). We describe a 20-year-old female with LQTS who experienced aborted cardiac arrest during the postpartum period. Genetic screening identified a KCNE1 D85N variant, which has been reported to be a LQTS-causing gene variant, in the patient and her younger sister, whose QT interval was also prolonged. Since the allele frequency of this variant is almost 1%, it may be important to clarify whether such variant carriers indeed have an increased risk of fatal ventricular tachyarrhythmias during the postpartum period.