A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia
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- 作者：Chia-Hsiang Hsueh ; Yi-Chun Weng ; Chao-Yu Chen ; Tin-Kwang Lin ; Yen-Hung Lin ; Ling-Ping Lai and Jiunn-Lee Lin
- 关键词：Cardiac ryanodine receptor ; Catecholaminergic polymorphic ventricular tachycardia ; Sudden cardiac death
- 刊名：International Journal of Cardiology
- 出版年：2006
- 出版时间：4 April 2006
- 年：2006
- 卷：108
- 期：2
- 页码：276-278
- 全文大小：307 K
文摘
An 18-year-old woman presented with exercise induced sudden collapse. Series of cardiac work up revealed no structural cardiac abnormalities. Bidirectional ventricular tachycardia occurred during a treadmill exercise test. Under the impression of catecholaminergic polymorphic ventricular tachycardia, we screened the cardiac ryanodine receptor gene for mutation. We identified a novel heterozygous mutation at the 169th amino acid (Arg169Gln). This amino acid is highly conserved among many species and this mutation was not present in 50 normal control subjects. This patient was treated with a β-block with good response.