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心血管文献智能检索平台 · Cardiovascular Literature Platform

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

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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.
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