A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel
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DOI：
10.1101/sqb.2002.67.333
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发表时间：
2002-01-01
期刊：
影响因子：
--
通讯作者：
Lahat, H
中科院分区：
文献类型：
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作者：
Eldar, M;Pras, E;Lahat, H
《冷泉港定量生物学研讨会》，卷LXVII，© 2002冷泉港实验室出版社0-87969-678-8/02。333人在表1。晕厥发作开始的平均年龄为6±3岁（范围3-12岁）。1名7岁无症状儿童在运动试验中确诊。患者为任一性别（9名女性，4名男性），每名患者均进行了未显示的体格检查。除静息窦性心动过缓（63±13 bpm）外，ECG正常，包括QT和QTc间期，超声心动图未显示任何病理。所有患者均出现运动或输注异丙肾上腺素诱发的PVT，平均心率为110±10 bpm（图1）。心动过速的持续时间和连续搏动的次数变化很大。一旦检测到心律失常就停止测试，因此VT的数量和持续时间的意义尚不清楚。在一些患者中，仅观察到短时间的多形性室性心动过速，而在其他患者中，持续性PVT持续> 60秒。在这些患者中检测到的室性心动过速是多态性的，与Leenhardt等人描述的相似。（1995年）。患者的平均QTc（开始治疗前）正常，0.4±0.02秒（范围：0.37-0.43），而未受影响同胞的平均QTc为0.37±0.016秒（范围：0.36-0.41）（p< 0.002）。患者的平均QT间期虽然在正常范围内，但明显长于未受影响的同胞。这些发现的意义尚不清楚，但它们可能反映了作为潜在病理学的复极“轻度”障碍。
Cold Spring Harbor Symposia on Quantitative Biology, Volume LXVII.© 2002 Cold Spring Harbor Laboratory Press 0-87969-678-8/02. 333 sented in Table 1. Syncopal episodes began at a mean age of 6±3 years (range 3–12). One 7-year-old asymptomatic child was diagnosed during an exercise test. Patients were of either gender (9 females, 4 males) and each had an unrevealing physical examination. ECG was normal, including the QT and QTc intervals, except for resting sinus bradycardia (63±13 bpm), and echocardiogram did not disclose any pathology. All patients had PVT induced by exercise or isoproterenol infusion at a mean heart rate of 110±10 bpm (Fig. 1). The duration and number of sequential beats of the tachycardia varied considerably. The tests were stopped once arrhythmia was detected, and therefore the significance of the number and duration of VT is unclear. In some patients, only short runs of polymorphic VT were noted, whereas in others continuous PVT lasted for> 60 seconds. The VTs detected in these patients were polymorphic and similar to those described by Leenhardt et al.(1995). Patients’ average QTc (before initiation of treatment) was normal, 0.4±0.02 seconds (range: 0.37–0.43) compared to 0.37±0.016 seconds (range: 0.36–0.41) in the unaffected sibs (p< 0.002). Patients’ mean QT interval, although in the normal range, was significantly longer than that of the unaffected siblings. The significance of these findings is unclear, but they may reflect a “mild” disorder in repolarization as the underlying pathology.