GITELMAN SYNDROME PRESENTING AS CARDIAC ARREST

Document Type

Conference Proceeding

Publication Date

6-23-2023

Publication Title

J Gen Intern Med

Abstract

CASE: A 43 year-old-female with a history of cardiac arrest, seizure, and cerebral aneurysm was admitted to the medical ICU for cardiac arrest. A few hours before her presentation patient had a seizure followed by cardiac arrest. On EMS arrival, her rhythm revealed ventricular fibrillation. She was shocked and received amiodarone with a successful return of spontaneous circulation. On arrival to the ED, she was emergently intubated for respiratory distress. EKG revealed prolonged QTc to 707 ms. Labs revealed severe hypokalemia, hypomagnesemia, hypochloremia, and metabolic alkalosis. Given the second episode of cardiac arrest in a setting of profound hypokalemia in a patient with no known history of tubulopathy, eating disorder, or diuretic use, her presentation was concerning for underlying genetic renal tubular disease. Further workup revealed urine potassium of 198 mg/dL and creatinine of 27 mg/ dL with a K/Cr ratio of 7.3, suggesting renal loss of potassium. At this point, the top differential included Gitelman or Bartter syndrome. So urine calcium, chloride, and magnesium were obtained to aid in differentiating between Gitelman and Bartter phenotypes. Urine electrolytes revealed hypocalciuria with calcium (8.3 mg/dL), creatinine (34 mg/dL), and the ratio of urine Ca: Cr <0.7, which confirmed Gitelman's phenotype. While admitted, electrolytes were repleted and put on potassium-sparing agents with stabilization of electrolytes. She later underwent successful placement of dual chamber ICD and was discharged. And she remained symptom-free. IMPACT/DISCUSSION: Gitelman syndrome (GS) is characterized by renal potassium and magnesium wasting with concomitant metabolic alkalosis and hypocalciuria. Diagnosis is usually clinical with workup revealing electrolyte abnormalities. Its clinical features range from nonspecific symptoms to life-threatening sudden cardiac arrest and seizures, which makes its diagnosis challenging. Management of GS involves close monitoring, life-long supplementation of potassium and magnesium, and cardiac risk stratification to prevent fatal arrhythmias. Our case again demonstrates the importance of accurate diagnosis. Had this patient been accurately diagnosed with GS, she could have had close follow-up and undergone cardiac stratification before her discharge, potentially preventing a second out-ofhospital cardiac arrest. Current guidelines for Implantable Cardioverter Defibrillator (ICD) placement for managing cardiac arrhythmias do not indicate ICD placement for cases with a reversible cause of the arrhythmia. Our case suggests that ICD could be beneficial for the secondary prevention of fatal arrhythmia in patients with Gitelman syndrome. CONCLUSION: The broad differential for electrolyte derangements and the relatively rare nature of Gitelman syndrome make its diagnosis challenging. As it can lead to fatal cardiac arrhythmias, accurate diagnosis can lead to life-saving interventions.

Volume

38

Issue

Suppl 3

First Page

S470

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