Clinical Trial: Evaluation of A Clinical Diagnostic Test for CRDS
Study Status: Completed
Recruit Status: RECRUITING
Condition: Calcium Release Deficiency Syndrome (CRDS)
Study Type: INTERVENTIONAL
Official Title: Evaluation of a Clinical Diagnostic Test for Calcium Release Deficiency Syndrome: The DIAGNOSE CRDS Study
Brief Summary:
Calcium Release Deficiency Syndrome (CRDS) is a novel inherited arrhythmia syndrome secondary to RyR2 loss-of-function that confers a risk of sudden cardiac death.Diagnosis of CRDS presently requires cellular-based in vitro confirmation that an RyR2 variant causes loss-of-function.We hypothesize that CRDS can be diagnosed clinically through evaluation of the repolarization response to brief tachycardia, mediated by cardiac pacing, and a subsequent pause.
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