Taniguchi Yuki, Miyazaki Aya, Sakaguchi Heima, Hayama Yousuke, Ebishima Norihiro, Negishi Jun, Noritake Kanae, Miyamoto Yoshihiro, Shimizu Wataru, Aiba Takeshi, Ohuchi Hideo
Department of Pediatric Cardiology, Division of Arrhythmias and Electrophysiology, National Cerebral and Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, 565-8565, Osaka, Japan.
Department of Cardiovascular Medicine, Hyogo Prefectural Kobe Children's Hospital, 1-6-7 chuo-ku, Kobe, 650-0047, Hyogo, Japan.
Heart Vessels. 2017 Feb;32(2):229-233. doi: 10.1007/s00380-016-0869-z. Epub 2016 Jul 11.
We report the case of a 12-year-old female patient with a history of four syncopal episodes related to exercise over 2 years and who showed prominent QTc prolongation on electrocardiogram; therefore, she was clinically diagnosed with long QT syndrome type-1. However, genetic analysis did not identify any LQT-related genes but showed a rare missense variant in the cardiac ryanodine receptor gene. From the results of drug-loading tests, administration of oral propranolol was initiated; thereafter, she experienced no syncopal episodes. This is a case report demonstrating the "overlapping clinical features" of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia.
我们报告了一例12岁女性患者，该患者在2年多的时间里有4次与运动相关的晕厥发作史，心电图显示QTc显著延长；因此，她被临床诊断为1型长QT综合征。然而，基因分析未发现任何与LQT相关的基因，但在心脏雷诺丁受体基因中发现了一种罕见的错义变异。根据药物负荷试验结果，开始口服普萘洛尔治疗；此后，她未再出现晕厥发作。这是一例展示长QT综合征和儿茶酚胺能多形性室性心动过速“重叠临床特征”的病例报告。
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