학술논문
Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
Document Type
article
Author
Source
JACC: Case Reports, Vol 29, Iss 11, Pp 102364- (2024)
Subject
Language
English
ISSN
2666-0849
Abstract
A 10-year-old female patient experienced syncope while swimming, and electrocardiography revealed polymorphic ventricular tachycardia, leading to a diagnosis of catecholaminergic polymorphic ventricular tachycardia. No pathogenic variant was identified in RYR2. Additional comprehensive genetic testing revealed novel compound heterozygous variants in trans-2,3-enoyl-coenzyme A reductase–like gene, which caused a recessive form of catecholaminergic polymorphic ventricular tachycardia.