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：10

作者：

Arakawa, Junko ^{[1
,2
]}

Hamabe, Akira ^{[1
,2
]}

Aiba, Takeshi ^{[3
]}

Nagai, Tomoo ^{[1
,2
]}

Yoshida, Mikoto ^{[1
,2
]}

Touya, Takumi ^{[1
,2
]}

Ishigami, Norio ^{[1
,2
]}

Hisadome, Hideki ^{[2
]}

Katsushika, Shuichi ^{[1
,2
]}

Tabata, Hirotsugu ^{[1
,2
]}

Miyamoto, Yoshihiro ^{[4
]}

Shimizu, Wataru ^{[3
,5
]}

机构：

[1] Japan Self Def Forces Cent Hosp, Dept Cardiol, Setagaya Ku, Tokyo 1548532, Japan

[2] KKR Mishuku Hosp, Dept Cardiol, Tokyo, Japan

[3] Natl Cerebral & Cardiovasc Ctr, Dept Cardiovasc Med, Osaka, Japan

[4] Natl Cerebral & Cardiovasc Ctr, Mol Genet Lab, Osaka, Japan

[5] Nippon Med Sch, Dept Cardiovasc Med, Tokyo 113, Japan

来源：

HEART AND VESSELS | 2015年 / 30卷 / 06期

关键词：

Sudden cardiac death; Catecholaminergic polymorphic ventricular tachycardia; Cardiac ryanodine receptor; AMERICAN-COLLEGE; ARRHYTHMIAS; ABNORMALITIES; ASSOCIATION; VARIABILITY; GUIDELINES; MANAGEMENT;

D O I：

10.1007/s00380-014-0555-y

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

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.

引用

页码：835 / 840

页数：6

共 37 条

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[32] Co-Phenotype of Left Ventricular Non-Compaction Cardiomyopathy and Atypical Catecholaminergic Polymorphic Ventricular Tachycardia in Association With R169Q, a Ryanodine Receptor Type 2 Missense Mutation
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[33] The RYR2-Encoded Ryanodine Receptor/Calcium Release Channel in Patients Diagnosed Previously With Either Catecholaminergic Polymorphic Ventricular Tachycardia or Genotype Negative, Exercise-Induced Long QT Syndrome A Comprehensive Open Reading Frame Mutational Analysis
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