Key result
Novel RYR2-P2159S loss-of-function variant underlies calcium release deficiency syndrome in unexplained cardiac arrest.
Why the study?
Unexplained cardiac arrest requires integration of genomic, functional, and clinical data to identify underlying causes such as calcium release deficiency syndrome.
Case Report (n=1)
No
This case highlights the importance of integrating genomic, functional, and clinical data to uncover the diagnosis of calcium release deficiency syndrome in patients with unexplained cardiac arrest.
May inform diagnosis of calcium release deficiency syndrome after unexplained cardiac arrest; extends RYR2 variant characterization but remains hypothesis-generating.
We describe a case of unexplained cardiac arrest (UCA) and its ensuing investigation, highlighting the need for integrating genomic, functional and clinal data to diagnose the underlying cause. The research reported in this paper adhered to Helsinki Declaration as revised in 2013 guidelines.
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Specterman et al. (2026) conducted a case report in Unexplained cardiac arrest (n=1). RYR2-P2159S variant vs. Wild-type RYR2 (in vitro) and pre-burst sinus rhythm was evaluated on Phenotypic characterization of calcium release deficiency syndrome via electrophysiological study and in vitro calcium release (p=<0.01). The RYR2-P2159S variant is a loss-of-function variant that produces electrophysiological changes indicative of calcium release deficiency syndrome, supporting its classification as pathogenic in unexplained cardiac arrest.
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