Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death - PubMed
3 hours ago
- #Cardiac Arrhythmia
- #Sudden Cardiac Death
- #Genetic Diagnosis
- Calcium Release Deficiency Syndrome (CRDS) is an inherited arrhythmia due to loss-of-function variants in RYR2.
- A novel clinical provocation test involving burst pacing can diagnose CRDS by showing T-wave augmentation post-arrhythmia.
- Pause dependence is crucial for diagnostic sensitivity in CRDS testing.
- A study of a family with unexplained sudden cardiac death confirmed CRDS via the provocation test and genetic analysis.
- The RYR2-p.Glu336Gly variant was identified as a loss-of-function mutation, unusual in a region typically linked to gain-of-function variants.
- This is the first reported clinical use of the CRDS provocation test, highlighting its potential for diagnosis.