A novel cardiac ryanodine receptor gene (RyR2) mutation in an athlete with aborted sudden cardiac death: a case of adult-onset catecholaminergic polymorphic ventricular tachycardia

被引：0
作者：
Junko Arakawa
Akira Hamabe
Takeshi Aiba
Tomoo Nagai
Mikoto Yoshida
Takumi Touya
Norio Ishigami
Hideki Hisadome
Shuichi Katsushika
Hirotsugu Tabata
Yoshihiro Miyamoto
Wataru Shimizu
机构：
[1] Japan Self-Defense Forces Central Hospital,Department of Cardiology
[2] KKR Mishuku Hospital,Department of Cardiology
[3] National Cerebral and Cardiovascular Center,Department of Cardiovascular Medicine
[4] National Cerebral and Cardiovascular Center,Laboratory of Molecular Genetics
[5] Nippon Medical School,Department of Cardiovascular Medicine
来源：
Heart and Vessels | 2015年 / 30卷
关键词：
Sudden cardiac death; Catecholaminergic polymorphic ventricular tachycardia; Cardiac ryanodine receptor;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Sudden cardiac death (SCD) in athletes <35 years of age are mostly due to congenital or acquired cardiac malformations or hypertrophic cardiomyopathy. However, ion channelopathies such as catecholaminergic polymorphic ventricular tachycardia (CPVT) or long-QT syndromes, which are less frequently observed, are also potential pathogenesis of SCD in young athletes. CPVT is an inherited arrhythmia that is induced by physical or emotional stress and may lead to ventricular fibrillation syncope or SCD. Here, we report a case of athlete woman with adult-onset CPVT and aborted SCD who has a novel missense mutation (K4392R) in the cardiac RyR2 gene.
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页码：835 / 840
页数：5
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