Novel Ryanodine Receptor 2 Mutation Associated with a Severe Phenotype of Catecholaminergic Polymorphic Ventricular Tachycardia

被引：6
|
作者：
LaPage, Martin J. [1 ]
Russell, Mark W. [1 ]
Bradley, David J. [1 ]
Dick, Macdonald, II [1 ]
机构：
[1] Univ Michigan, Dept Pediat & Communicable Dis, Div Pediat Cardiol, Ann Arbor, MI 48109 USA
来源：
JOURNAL OF PEDIATRICS | 2012年 / 161卷 / 02期
关键词：
LONG QT SYNDROME;
D O I：
10.1016/j.jpeds.2012.04.013
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
An adolescent girl with a history of anxiety associated seizure-like episodes was ultimately diagnosed with catecholaminergic polymorphic ventricular tachycardia. She tested positive for a novel mutation of the ryanodine receptor. The report underscores how genetic arrhythmia syndromes may be mistaken for neurologic disorders. (J Pediatr 2012;161:362-4)
引用
收藏
页码：362 / 364
页数：3
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