ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Pediatric Cardiology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1549827
Identification of a novel TECRL variant causing Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia
Provisionally accepted
- Children's Hospital of Soochow University, Suzhou, China
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AbstractBackground: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a leading cause of sudden cardiac death (SCD) in young patients, characterized by bidirectional or polymorphic ventricular tachycardia often induced by physical exertion or emotional stress.Results: We analyzed a 12-year-old girl with CPVT who suffered cardiac and respiratory arrest. Clinical data were derived from medical records. Whole-exome sequencing (WES) and Sanger sequencing identified two missense mutations in the trans-2,3-enoyl-CoA reductase-like (TECRL) gene (NM_001010874.5: c.587G>A p.Arg196Gln and NM_001010874.5: c.868C>T p.Pro290Ser), potentially pathogenic and associated with type 3 CPVT (CPVT3). Functional studies suggested both mutations could lead to reduced protein expression. We also discovered a novel TECRL mutation (NM_001010874.5: c.868C>T p.Pro290Ser). This study further supports the role of TECRL as one cause of CPVT.Conclusions: In this study, functional studies implicate these variants as the cause of CPVT in this patient.
Keywords: Sudden cardiac death, Long QT Syndrome, Catecholaminergic polymorphic ventricular tachycardia, pediatric, TECRL, Functional Analysis
Received: 22 Dec 2024; Accepted: 30 Apr 2025.
Copyright: © 2025 Chen, Shen, Chen and Sun. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Ling Sun, Children's Hospital of Soochow University, Suzhou, China
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