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

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Authors: Hatice Kemal, Mahmut Çerkez Ergören, Behich Koyutourk, Levent Ceri̇t, Hamza Duygu
Cited by: 1
References: 10

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