Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death.
📚 期刊: JAMA cardiology
📅 发表:
🔬 PMID: 42201699 👁️ 浏览: 11
心血管
📝 摘要
Calcium release deficiency syndrome (CRDS) is a recently described inherited arrhythmia caused by loss-of-function variants in the cardiac ryanodine receptor (RYR2). Diagnosis currently requires in vitro functional testing and availability limits diagnosis; a recently proposed burst pacing provocation test offers a potential clinical diagnostic tool, but its performance remains to be validated.