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

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.