(). Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death.. JAMA cardiology
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📝 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.