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Related Experiment Video

Updated: Jun 23, 2025

Assessment of Calcium Sparks in Intact Skeletal Muscle Fibers
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A Clinical Diagnostic Test for Calcium Release Deficiency Syndrome.

Mingke Ni1, Ziv Dadon2,3, Julian O M Ormerod4,5

  • 1Libin Cardiovascular Institute, Department of Physiology and Pharmacology, University of Calgary, Calgary, Alberta, Canada.

JAMA
|June 20, 2024
PubMed
Summary

A new electrocardiogram test can diagnose Calcium Release Deficiency Syndrome (CRDS), a genetic heart condition causing sudden cardiac arrest. This simple test identifies a unique repolarization response in CRDS patients.

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Area of Science:

  • Cardiology
  • Genetics
  • Electrophysiology

Background:

  • Sudden cardiac arrest often occurs without clear cause, even after medical evaluation.
  • Calcium Release Deficiency Syndrome (CRDS) is a life-threatening genetic arrhythmia undetectable by standard tests.

Purpose of the Study:

  • To evaluate an electrocardiogram (ECG) response to brief tachycardia and pause as a diagnostic test for CRDS.
  • To investigate the underlying cellular mechanisms of CRDS using genetic mouse models.

Main Methods:

  • An international, multicenter case-control study involving CRDS patients, control groups, and genetic mouse models.
  • ECG recordings analyzed for changes in QT interval and T-wave amplitude after induced brief tachycardia and pause.

Main Results:

  • CRDS patients exhibited a significantly higher T-wave amplitude change post-pause compared to controls (P < .001).
  • This ECG maneuver demonstrated 100% discrimination between CRDS cases and controls.
  • Mouse models confirmed the human findings, linking the response to abnormal calcium release.

Conclusions:

  • A unique ECG repolarization response to tachycardia-pause provocation exists in CRDS.
  • This maneuver may become a valuable clinical diagnostic tool for CRDS and unexplained cardiac arrest evaluations.