Department of Internal Medicine, Kyungpook National University School of Medicine, Daegu, Korea.
Korean Circ J. 2012 Feb;42(2):129-32. doi: 10.4070/kcj.2012.42.2.129. Epub 2012 Feb 27.
A 16-year-old male with a prior history of recurrent syncope was referred to our hospital after being resuscitated from cardiac arrest developed while playing volleyball. His electrocardiogram (ECG) demonstrated ventricular fibrillation at a local emergency department. After referral, an ECG showed bidirectional ventricular tachycardia (VT) and nonsustained Torsade de Pointes. Two days later, his heart rate became regular, and no additional episodes of VT were observed. His ECG showed sinus rhythm with a corrected QT interval of 423 msec, and two-dimensional echocardiography was unremarkable. We made the diagnosis of a catecholaminergic polymorphic VT. However, only premature ventricular complex bigeminy was induced on exercise ECG and epinephrine infusion tests, and the patient showed no episodes of syncope. His father and mother had different missense mutations in the cardiac ryanodine receptor on genetic testing. The proband had both mutations in different alleles and was symptomatic. It was recommended that the patient avoid competitive physical activities, and a β-blocker was prescribed.
一名 16 岁男性，既往有反复发作性晕厥史，在打排球时发生心跳骤停，随后在当地急诊科行心肺复苏后被转至我院。其心电图显示为室颤。转至我院后，心电图显示双向性室性心动过速和非持续尖端扭转型室性心动过速。两天后，其心率恢复正常，未再观察到 VT 发作。心电图显示窦性心律，校正 QT 间期为 423 毫秒，二维超声心动图未见异常。我们诊断为儿茶酚胺敏感性多形性室性心动过速。然而，运动心电图和肾上腺素输注试验仅诱发出室性早搏二联律，且患者无晕厥发作。其父亲和母亲的基因检测均显示心脏兰尼碱受体存在不同的错义突变。先证者在不同等位基因上均存在两种突变，且有症状。建议患者避免竞技性体育活动，并开了β受体阻滞剂。
