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Clinical Diagnosis of Calcium Release Deficiency Syndrome in a Family With Sudden Cardiac Death.

📚 期刊: JAMA cardiology 📅 发表: 🔬 PMID: 42201699 👁️ 浏览: 20

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

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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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