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◆ Pacing and Clinical Electrophysiology2026-05-26· Medicine

Compound Heterozygous <i>SLC12A3</i> Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest

Hatice Kemal, Mahmut Çerkez Ergören, Behich Koyutourk, Levent Ceri̇t, Hamza Duygu

原始摘要(英文原文)· Original 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.
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Compound Heterozygous <i>SLC12A3</i> Variants in Gitelman Syndrome Presenting With Ventricular Fibrillation and Cardiac Arrest — 科研速览 Science Skim