Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest
Abstract
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy characterized by hypokalemia, hypomagnesemia, and metabolic alkalosis. Although often considered benign, GS may predispose to malignant ventricular arrhythmias. CASE PRESENTATION: A 41-year-old male presented with cardiac arrest due to ventricular fibrillation (VF). Severe hypokalemia (1.6 mmol/L) and hypomagnesemia were identified, with no structural heart disease on imaging. Recurrent VF persisted despite antiarrhythmic therapy and resolved only after electrolyte correction. Genetic testing revealed pathogenic SLC12A3 variants. CONCLUSION: GS can cause an electrical storm in structurally normal hearts; prompt recognition and electrolyte management are essential.
Fields of Study & Subjects
Ion Transport and Channel Regulation
Cardiac electrophysiology and arrhythmias
Ion channel regulation and function
Publication details
- Journal / source
- Pacing and Clinical Electrophysiology
- Publisher
- Wiley
- Publication date
- 26 May 2026
- Language
- EN