Prominent QTc prolongation in a patient with a rare variant in the cardiac ryanodine receptor gene

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• 作者：Yuki Taniguchi ; Aya Miyazaki ; Heima Sakaguchi ; Yousuke Hayama…
• 关键词：Catecholaminergic polymorphic ventricular tachycardia ; Long QT syndrome ; Ryanodine receptor 2 gene ; Premature ventricular conduction
• 刊名：Heart and Vessels
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：32
• 期：2
• 页码：229-233
• 全文大小：
• 刊物类别：Medicine
• 刊物主题：Cardiology; Cardiac Surgery; Vascular Surgery; Biomedical Engineering;
• 出版者：Springer Japan
• ISSN：1615-2573
• 卷排序：32

文摘

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.