Arrhythmias & electrophysiologyCohort study
Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death
- Case series
- single-centre
- tertiary referral centre
- 5-generation pedigree
- Data gathered and analysed June 2024 through March 2025
Authors' conclusion
This case series provides the first clinical application of the CRDS provocation test in a family with a history of unexplained sudden cardiac death.
Study context
- Population
- Large French Canadian family with extensive history of unexplained sudden cardiac arrest and death; multidisciplinary cardiac genetics clinic, CanadaRyanodine receptor (RYR2) variant carriers
- Participants
- 5 participants
- Outcome
- Diagnostic T-wave augmentation following burst pacing or spontaneous atrial or ventricular arrhythmia
Main finding
As reported in the abstract
Diagnostic T-wave augmentation consistent with calcium release deficiency syndrome (CRDS)
RYR2 variant carriers with diagnostic T-wave augmentation after pacing or spontaneous arrhythmia
5
Observational data: associations, not effects.
Further findings
Functional studies of novel RYR2-p.Glu336Gly variant
- Variant confirmed to result in loss of function; first such variant within a hot spot previously restricted to gain-of-function variants
Original publication
Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death. JAMA Cardiol. Published 1 July 2026. doi:10.1001/jamacardio.2026.1067
Summarised from the published abstract; every number is checked against it