P. Peltenburg, Harry Gibson, A. Wilde, C. van der Werf, S. Clur, Nico A Blom
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引用次数: 0
Abstract
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.
期刊介绍:
Cardiology in the Young is devoted to cardiovascular issues affecting the young, and the older patient suffering the sequels of congenital heart disease, or other cardiac diseases acquired in childhood. The journal serves the interests of all professionals concerned with these topics. By design, the journal is international and multidisciplinary in its approach, and members of the editorial board take an active role in the its mission, helping to make it the essential journal in paediatric cardiology. All aspects of paediatric cardiology are covered within the journal. The content includes original articles, brief reports, editorials, reviews, and papers devoted to continuing professional development.