Summary

Heart Vessels. 2015 Nov;30(6):835-40. doi: 10.1007/s00380-014-0555-y. Epub 2014 Aug 5.

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.

Abstract:

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.

日本語要旨:

成人発症のカテコラミン誘発性多形性心室細動と胎児突然死を有するRyR2遺伝子変異の症例を報告した。

PMID:  25092222

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