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Article

A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child.

Medicine - 1 Apr 2018

Duan Hongyu, Lu Yongyi, Yan Song, Qiao Lina, Hua Yimin, Li Yifei, Zhou Kaiyu, Wang Chuan

Abstract excerpt

RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of...

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Identifiers

PMID: 29668588
DOI: 10.1097/MD.0000000000010368
PMCID: PMC5916663

Genes

RYR2

Variants

Provenance

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A delayed diagnosis of catecholaminergic polymorphic ventricular tachycardia with a mutant of RYR2 at c.7580T>G for 6 years in a 9-year-old child.PMID 29668588Read ↗

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