{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,23]],"date-time":"2026-06-23T00:48:41Z","timestamp":1782175721719,"version":"3.54.5"},"reference-count":25,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T00:00:00Z","timestamp":1747353600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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 (<jats:italic>TECRL<\/jats:italic>) gene (NM_001010874.5: c.587G\u2009&amp;gt;\u2009A p.Arg196Gln and NM_001010874.5: c.868C\u2009&amp;gt;\u2009T 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 <jats:italic>TECRL<\/jats:italic> mutation (NM_001010874.5: c.868C\u2009&amp;gt;\u2009T p.Pro290Ser). This study further supports the role of <jats:italic>TECRL<\/jats:italic> as one cause of CPVT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>In this study, functional studies implicate these variants as the cause of CPVT in this patient.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1549827","type":"journal-article","created":{"date-parts":[[2025,5,16]],"date-time":"2025-05-16T05:21:54Z","timestamp":1747372914000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":1,"title":["Identification of a novel TECRL variant causing type 3 catecholaminergic polymorphic ventricular tachycardia"],"prefix":"10.3389","volume":"13","author":[{"given":"Yun","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Shen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Long","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ling","family":"Sun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,16]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1800","DOI":"10.1136\/heartjnl-2013-303939","article-title":"A systematic review and meta-analysis of genotype-phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein 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