{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T16:56:38Z","timestamp":1776358598978,"version":"3.51.2"},"reference-count":50,"publisher":"Cambridge University Press (CUP)","issue":"6","license":[{"start":{"date-parts":[[2024,4,24]],"date-time":"2024-04-24T00:00:00Z","timestamp":1713916800000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["cambridge.org"],"crossmark-restriction":true},"short-container-title":["Cardiol Young"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Despite its low prevalence, the potential diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT) should be at the forefront of a paediatric cardiologists mind in children with syncope during exercise or emotions. Over the years, the number of children with a genetic diagnosis of CPVT due to a (likely) pathogenic <jats:italic>RYR2<\/jats:italic> variant early in life and prior to the onset of symptoms has increased due to cascade screening programmes. Limited guidance for this group of patients is currently available. Therefore, we aimed to summarise currently available literature for asymptomatic patients with a (likely) pathogenic <jats:italic>RYR2<\/jats:italic> variant, particularly the history of CPVT and its genetic architecture, the currently available diagnostic tests and their limitations, and the development of a CPVT phenotype \u2013 both electrocardiographically and symptomatic \u2013 of affected family members. Their risk of arrhythmic events is presumably low and a phenotype seems to develop in the first two decades of life. Future research should focus on this group in particular, to better understand the development of a phenotype over time, and therefore, to be able to better guide clinical management \u2013 including the frequency of diagnostic tests, the timing of the initiation of drug therapy, and lifestyle recommendations.<\/jats:p>","DOI":"10.1017\/s1047951124000714","type":"journal-article","created":{"date-parts":[[2024,4,23]],"date-time":"2024-04-23T22:20:00Z","timestamp":1713910800000},"page":"1182-1189","update-policy":"https:\/\/doi.org\/10.1017\/policypage","source":"Crossref","is-referenced-by-count":2,"title":["Prognosis and clinical management of asymptomatic family members with <i>RYR2<\/i>-mediated catecholaminergic polymorphic ventricular tachycardia: a review"],"prefix":"10.1017","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8942-164X","authenticated-orcid":false,"given":"Puck J.","family":"Peltenburg","sequence":"first","affiliation":[{"name":"Amsterdam, UMC, University of Amsterdam, Heart Centre"},{"name":"Amsterdam UMC, University of Amsterdam, Emma Children\u2019s Hospital"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harry","family":"Gibson","sequence":"additional","affiliation":[{"name":"Amsterdam, UMC, University of Amsterdam, Heart Centre"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Arthur A. 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