Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest
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2026
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| author | Hatice Kemal Mahmut Cerkez Ergoren Behich Koyutourk Levent Cerit Hamza Duygu |
| author_facet | Hatice Kemal Mahmut Cerkez Ergoren Behich Koyutourk Levent Cerit Hamza Duygu Hatice Kemal Mahmut Cerkez Ergoren Behich Koyutourk Levent Cerit Hamza Duygu |
| collection | Wiley Open Access |
| contents | Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest Hatice Kemal Mahmut Cerkez Ergoren Behich Koyutourk Levent Cerit Hamza Duygu Pacing and Clinical Electrophysiology 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. 10.1111/pace.70302 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| doi_str_mv | 10.1111/pace.70302 |
| format | Artículo Open Access |
| id | wiley_oa_10_1111_pace_70302 |
| institution | Wiley Open Access |
| license_str_mv | http://onlinelibrary.wiley.com/termsAndConditions#vor |
| publishDate | 2026 |
| publisher | Wiley |
| record_format | wiley_oa |
| spellingShingle | Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest Hatice Kemal Mahmut Cerkez Ergoren Behich Koyutourk Levent Cerit Hamza Duygu Pacing and Clinical Electrophysiology Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest Hatice Kemal Mahmut Cerkez Ergoren Behich Koyutourk Levent Cerit Hamza Duygu Pacing and Clinical Electrophysiology 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. 10.1111/pace.70302 http://onlinelibrary.wiley.com/termsAndConditions#vor |
| title | Compound Heterozygous SLC12A3 Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest |
| topic | Pacing and Clinical Electrophysiology |
| url | https://onlinelibrary.wiley.com/doi/10.1111/pace.70302 |