Arrhythmias & electrophysiology
RYR2 Variants in Catecholaminergic Polymorphic Ventricular Tachycardia Patients: Insights From Protein Structure and Clinical Data
Authors' conclusion
This study compiled a comprehensive data set of CPVT-associated RYR2 variants and their clinical phenotypes. The age of onset in certain domains (core solenoid) and subdomains (core solenoid[exEF-hand], channel pore) tended to be lower compared with other regions. Variability in patient phenotypes, such as age of onset and treatment efficacy, along with structural information on variants, suggests that patients may benefit from personalized interventions based on their variant.
Study context
- Population
- Patients with RYR2-related catecholaminergic polymorphic ventricular tachycardia (CPVT) variants reported in articles published up to October 2020 from PubMed, Scopus, and Embasepatients with CPVT (351 male, 463 female) identified in 221 publications, with 263 RYR2 protein-coding variants
- Participants
- 964 patients
- Comparison
- Age of onset by RYR2 variant location and treatment strategies
- Outcome
- Age of onset of CPVT
Main finding
As reported in the abstract
Median age of onset of CPVT
11 years
interquartile range, 7–14 years
Further findings
Web app
- A web app was developed to allow users to query the database and is available at https://markslab-cpvtdb.org
Treatments in addition to β-blockers
- The proportion of patients requiring treatments in addition to β-blockers varied between variants
Age of onset by variant location
- Differed significantly between RYR2 variants located in different exons, domains, and subdomains
- Core solenoid (domain level), core solenoid (exEF-hand) and channel pore (subdomain level) tended to have a lower age of onset compared with other regions
Original publication
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