Key result
RYR2 variants in CPVT frequently present with syncope and atrial tachyarrhythmias.
Why the study?
CPVT is a rare, inherited heart rhythm disorder, and the study aimed to analyze different genotype-specific clinical manifestations of this disease.
Population
Five CPVT cases from a single institution
Design
Single-center case series
Authors
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Should not yet change CPVT practice; hypothesis-generating for RYR2 genotype-phenotype links in larger cohorts.
Case Report (n=5)
No
This case series highlights the diverse phenotypic presentations of RYR2-mediated CPVT, including the common occurrence of syncope and concomitant atrial tachyarrhythmias.
Jurisic et al. (2023) conducted a case report in Catecholaminergic polymorphic ventricular tachycardia (CPVT) (n=5). RYR2 gene variants was evaluated on Clinical manifestations. In 5 patients with CPVT harboring RYR2 gene variants, syncope was the most prevalent symptom (4 patients), and atrial tachyarrhythmias were common.
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