Calcium release channel deficiency syndrome in patients diagnosed with idiopathic ventricular fibrillation and decedents classified as sudden unexplained death in the young

EP Europace 2026 Open access

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Authors: Lucilla Giammarino, Raquel Neves, David J. Tester, Sahej Bains, Vanessa Karlinski Vizentin, J. Martijn Bos, John Giudicessi, Michael J. Ackerman
DOI: 10.1093/europace/euaf303
Cited by: 2
References: 45

Abstract

AIMS: Calcium release channel deficiency syndrome (CRCDS) results from loss-of-function (LOF) variants in the RYR2-encoded type 2 ryanodine receptor (RyR2), predisposing patients to sudden cardiac arrest/death (SCA/SCD) without abnormalities on a stress electrocardiogram (ECG). Undetected CRCDS may underlie idiopathic ventricular fibrillation (IVF) and sudden unexplained death in the young (SUDY). We aimed to determine the prevalence of potential CRCDS-causative RYR2 variants in IVF and SUDY. METHODS AND RESULTS: We reviewed clinical evaluation and RYR2 genetic analysis of 169 IVF patients and 279 SUDY victims. Only ultra-rare (

Fields of Study & Subjects

Cardiac electrophysiology and arrhythmias Ion channel regulation and function Atrial Fibrillation Management and Outcomes

Publication details

Journal / source
EP Europace
Publisher
Oxford University Press (OUP)
Volume
28
Issue
2
Publication date
1 February 2026
Language
EN