Novel Compound Heterozygous Variants in Trans-2,3-Enoyl-Coenzyme A Reductase-Like Gene Associated With Catecholaminergic Polymorphic Ventricular Tachycardia.

Shimamoto, Keiko; Sumitomo, Naokata; Nabeshima, Taisuke; Ohno, Seiko; Shimizu, Wataru; Kusano, Kengo; Aiba, Takeshi

Shimamoto, Keiko; Sumitomo, Naokata; Nabeshima, Taisuke; Ohno, Seiko; Shimizu, Wataru; Kusano, Kengo; Aiba, Takeshi.

Afiliação

Shimamoto K; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.
Sumitomo N; Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Hidaka, Japan.
Nabeshima T; Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Hidaka, Japan.
Ohno S; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.
Shimizu W; Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan.
Kusano K; Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.
Aiba T; Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan.

JACC Case Rep ; 29(11): 102364, 2024 Jun 05.

Article em En | MEDLINE | ID: mdl-38756419

ABSTRACT

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.

Palavras-chave

CPVT; TECRL; electrocardiogram; genetics; pharmacology

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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article

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