与儿茶酚胺能多形性室性心动过速相关的反式-2,3-烯酰辅酶A还原酶样基因中的新型复合杂合变异体。
Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia.
作者信息
Shimamoto Keiko, Sumitomo Naokata, Nabeshima Taisuke, Ohno Seiko, Shimizu Wataru, Kusano Kengo, Aiba Takeshi
机构信息
Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.
Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Hidaka, Japan.
出版信息
JACC Case Rep. 2024 May 7;29(11):102364. doi: 10.1016/j.jaccas.2024.102364. eCollection 2024 Jun 5.
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 . 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.
一名10岁女性患者在游泳时发生晕厥，心电图显示多形性室性心动过速，诊断为儿茶酚胺能多形性室性心动过速。在[具体基因名称未给出]中未发现致病变异。进一步的全面基因检测发现反式-2,3-烯酰辅酶A还原酶样基因存在新的复合杂合变异，这导致了一种隐性形式的儿茶酚胺能多形性室性心动过速。
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