Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest.

Pacing Clin ElectrophysiolMay 26, 2026 (epub)
Case ReportNephrologyCardiologyMedical Genetics

Hatice Kemal, Mahmut Cerkez Ergoren, Behich Koyutourk et al.

✦ AI-curated · Sources linked

Case in brief

A 41-year-old man presented after cardiac arrest from ventricular fibrillation. Testing showed severe hypokalemia (1.6 mmol/L) and hypomagnesemia, while cardiac imaging found no structural heart disease. Ventricular fibrillation recurred despite antiarrhythmic therapy and stopped after electrolyte correction. Genetic testing identified pathogenic SLC12A3 variants, supporting Gitelman syndrome as the underlying salt-losing tubulopathy.

What made this case unusual

Gitelman syndrome presented as recurrent ventricular fibrillation and cardiac arrest in a patient with structurally normal heart imaging.

Diagnostic / clinical pearl

In ventricular fibrillation without structural heart disease, severe hypokalemia and hypomagnesemia should prompt consideration of Gitelman syndrome; in this case, arrhythmia resolved after electrolyte correction.

Source

PubMed · PMID 42189724

Published in Pacing Clin Electrophysiol. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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