Po-655-05 Is Ankyrin-2 a Potential Genetic Modifier in Pediatric Catecholaminergic Polymorphic Ventricular Tachycardia?

Kallas, Dania; Bos, J. Martijn; Peltenburg, Puck; Franciosi, Sonia; Mohajeri, Arezoo; Cheung, Matthew C.; Brett, Laura; York, Nicole; Sanchez-Arias, Juan; Swayne, Leigh Anne; Arbour, Laura; Tester, David J.; Tibbits, Glen F.; Lehman, Anna; Wilde, Arthur A.M.; Ackerman, Michael J.; Sanatani, Shubhayan

doi:10.1016/j.hrthm.2022.03.275

Cited by 1 publication

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“…Future studies aim to shed more light on this important but difficult subject. 45,46 Independently of the sports recommendation, the patient and their family members should be aware of the risk for life-threatening arrhythmias during sports, and preventive measures (such as a cardio pulmonic resuscitation course, the presence of an automatic external defibrillator during sports, supervised swimming) should be discussed.…”

Section: Lifestyle Recommendations Of Asymptomatic Patientsmentioning

confidence: 99%

Prognosis and clinical management of asymptomatic family members with RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: a review

Peltenburg,

Gibson,

Wilde

et al. 2024

Cardiol Young

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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 RYR2 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 RYR2 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 – both electrocardiographically and symptomatic – 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 – including the frequency of diagnostic tests, the timing of the initiation of drug therapy, and lifestyle recommendations.

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Section: Lifestyle Recommendations Of Asymptomatic Patientsmentioning

confidence: 99%