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

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

JACC: Case Reports (Jun 2024)

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

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

Affiliations

Keiko Shimamoto, MD, PhD: Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan
Naokata Sumitomo, MD, PhD: Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Hidaka, Japan
Taisuke Nabeshima, MD, PhD: Department of Pediatric Cardiology, Saitama Medical University International Medical Center, Hidaka, Japan
Seiko Ohno, MD, PhD: Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan
Wataru Shimizu, MD, PhD: Department of Cardiovascular Medicine, Nippon Medical School, Tokyo, Japan; Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan
Kengo Kusano, MD, PhD: Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan
Takeshi Aiba, MD, PhD: Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Suita, Japan; Address for correspondence: Dr Takeshi Aiba, Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, 6-1 Kishibe-Shimmachi, Suita 564-8565, Japan.

Journal volume & issue: Vol. 29, no. 11
p. 102364

Abstract

Read online

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.

Published in JACC: Case Reports

ISSN: 2666-0849 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Medicine: Internal medicine: Specialties of internal medicine: Diseases of the circulatory (Cardiovascular) system
Website: https://www.journals.elsevier.com/jacc-case-reports

About the journal

Abstract

Keywords