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

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

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 testi...

Full description

Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2024-06-01
Series:JACC: Case Reports
Subjects:
CPVT
electrocardiogram
genetics
pharmacology
TECRL
Online Access:http://www.sciencedirect.com/science/article/pii/S2666084924001578

Internet

http://www.sciencedirect.com/science/article/pii/S2666084924001578

Similar Items