A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward).
A KCNE1 missense variant (V47I) causing exercise-induced long QT syndrome (Romano Ward).
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KCNE1 错义变异 (V47I) 导致运动诱发的长 QT 综合征 (Romano Ward)。
DOI：
10.1016/j.ijcard.2011.08.022
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发表时间：
2012
影响因子：
3.5
通讯作者：
Archer,StephenL
中科院分区：
文献类型：
--
作者：
Ryan,JohnJ;Kalscheur,Matthew;Dellefave,Lisa;McNally,Elizabeth;Archer,StephenL
我们介绍了一名 28 岁女性的病例，她被转介寻求有关二尖瓣脱垂 (MVP) 治疗的第二意见。 14岁时，她被诊断出患有杂音。 23岁时，她每天用力时都会出现心悸，偶尔会出现头晕，但从未出现晕厥。她没有服用任何已知会延长 QT 间期的药物或饮食补充剂。她的家族史很重要，因为她的母亲在 40 岁时目睹了突然的死亡。尸检报告显示，死因是“二尖瓣脱垂”。她的妹妹，24岁也获得了MVP。检查时，心尖部有收缩晚期杂音，与 MVP 和中度二尖瓣反流 (MR) 一致。心电图 (ECG) 显示窦性心律右偏，S1Q3T3 和正常校正 QT (QTc) 间期 477 毫秒（图 1）。超声心动图显示二尖瓣小叶和 2+/4+、后向 MR 均出现粘液瘤变性。她接受了压力测试来评估她的劳累性心悸。有趣的是，在 Bruce 协议压力测试的运动部分中，她的 QTc 间期延长至超过 500 毫秒（图 1）。随后，事件监视器显示偶尔出现 PVC 和 150 bpm 的 4 次非持续性室性心动过速 (NSVT)（图 2）。由于她的 QTc 间期延长以及猝死家族史，她被转诊进行基因检测。她接受了长 QT (LQT)、扩张型心肌病、线粒体异常和线粒体基因的基因检测。唯一确定的致病性变异存在于 KCNE1 基因 V47I 中（图 3）。该变异未在 400 个对照等位基因中发现，之前仅在文献中报道过一次。
We present a case of a 28-year-old female was referred for a second opinion regarding management of mitral valve prolapse (MVP). At age 14 years she was diagnosed with a murmur. At age 23 years she developed daily episodes of palpitations with exertion, occasionally with dizziness but never with syncope. She was not on any medications or diet supplements known to prolong the QT interval. Her family history was significant for the witnessed sudden death of her mother at age 40 years. The cause of death per the autopsy report was “mitral valve prolapse”. Her younger sister, age 24 years also has MVP. On examination, a late systolic murmur was appreciated at the apex, consistent with MVP and moderate mitral regurgitation (MR).Electrocardiogram (ECG) showed sinus rhythm with right axis deviation, S1Q3T3 and normal corrected QT (QTc) interval of 477 msec (Figure 1). Echocardiography showed myxomatous degeneration of both mitral leaflets and 2+/4+, posteriorly-directed, MR. She underwent stress testing to evaluate her exertional palpitations. Interestingly, during the exercise component of a Bruce protocol stress test, her QTc interval prolonged to greater than 500msec (Figure 1). Subsequently an event monitor showed occasional PVCs and a 4-beat run of nonsustained ventricular tachycardia (NSVT) at 150 bpm (Figure 2). Because of her prolonged QTc interval and family history of sudden death, she was referred for genetic testing. She underwent genetic testing for long QT (LQT), dilated cardiomyopathy, mitochondrial abnormalities and mitochondrial genes. The only pathogenic variant identified was in the KCNE1 gene, V47I (Figure 3). This variant was not identified in 400 control alleles and has previously been reported only once in the literature.
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影响因子：
37.8
作者：
Splawski, I;Shen, JX;Keating, MT
通讯作者：
Keating, MT
影响因子：
37.8
作者：
Vincent, G. Michael;Schwartz, Peter J.;Zhang, Li
通讯作者：
Zhang, Li
影响因子：
3.5
作者：
Sand PG;Luettich A;Kleinjung T;Hajak G;Langguth B
通讯作者：
Langguth B
影响因子：
4.7
作者：
Schulze-Bahr, E;Schwarz, M;Isbrandt, D
通讯作者：
Isbrandt, D