Correspondence

Gitelman's Not-So-Benign Syndrome

N Engl J Med 2005; 353:850-851August 25, 2005

Article

To the Editor:

Gitelman's syndrome, or congenital hypokalemic hypomagnesemic hypocalciuria with metabolic alkalosis, is widely described as a benign1 or milder2 variant of Bartter's syndrome. Despite symptoms including presyncope, vertigo, ataxia, and blurred vision, few data have been accumulated regarding formal cardiac evaluation for patients with Gitelman's syndrome.3

We report a case of Gitelman's syndrome in a patient presenting with presyncope coincident with long runs of ventricular tachycardia at 230 beats per minute that was decidedly malignant. An otherwise well 39-year-old woman taking no medications (not even thiazides) presented with recurrent presyncope. An echocardiogram and the results of a stress test were normal. A computed tomographic (CT) scan of the abdomen showed no mass lesion, and CT angiography of the chest showed normal coronary-artery anatomy with no stenoses. Holter monitoring revealed recurrent 2-to-8-second runs of monomorphic ventricular tachycardia with a cycle length of 260 msec coincident with presyncope.

On admission, the patient's serum electrolyte levels were as follows: potassium, 2.9 mmol per liter; magnesium, 0.9 mg per deciliter; sodium, 144 mmol per liter; chloride, 102 mmol per liter; and carbon dioxide, 34 mmol per liter. Urine electrolyte levels were as follows: sodium, 80 mmol per liter; chlorine, 128 mmol per liter; potassium, 83 mmol per liter; and magnesium, 10 mg per deciliter. Hypokalemic hypomagnesemic hypercalciuria persisted for several days in the hospital. An electrocardiogram showed sinus rhythm with a PR interval of 148 msec, a QRS interval of 94 msec, a QT interval of 424 msec, and a prolonged corrected QT interval (QTc) of 470 msec. Blood urea nitrogen and serum creatinine levels were normal. Plasma renin and aldosterone levels were 63 U per milliliter and 24.3 ng per deciliter, respectively, while the patient was in a recumbent position. An electrophysiological study was negative for inducible, sustained ventricular tachycardia; however, the patient continued to have ventricular tachycardia with presyncope despite aggressive potassium and magnesium supplementation and treatment with amiloride (an aldosterone antagonist), captopril (an angiotensin-converting–enzyme inhibitor), and lidocaine.

Amiodarone was initiated, in place of lidocaine, to control symptomatic runs of rapid, nonsustained ventricular tachycardia, and a defibrillator was implanted to guard against a potential breakthrough of sustained ventricular arrhythmia. The arrhythmia subsided and the patient was discharged to her home in good condition.

Gitelman's syndrome is an autosomal recessive disorder with an inactivating mutation of the thiazide-sensitive sodium–chloride cotransporter in the distal renal tubule. Scant literature exists regarding cardiac evaluation3,4 and suggests that about half the patients with Gitelman's syndrome have QTc prolongation. Although Gitelman's syndrome is described as an asymptomatic or benign disorder with characteristic electrolyte abnormalities, most reports of clinical series document presyncope, vertigo, ataxia, and blurred vision. The present case suggests that more diligent investigation into ventricular arrhythmia, particularly in patients with prolonged QTc, may be warranted.

Roman T. Pachulski, M.D.
South Texas Heartbeat Associates, San Antonio, TX 78229
rtpach@mac.com

Fernando Lopez, M.D.
Alamo Heart Associates, San Antonio, TX 78229

Rashid Sharaf, M.D.
South Texas Nephrology, San Antonio, TX 78229

4 References

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Citing Articles (12)

Citing Articles

1. 1

   Supriya Maddirala, David H. Ellison. 2012. Genetic disorders of sodium transport. , 522-529.
   CrossRef

2. 2

   Aditi Sinha, Petr Lněnička, Biswanath Basu, Ashima Gulati, Pankaj Hari, Arvind Bagga. (2011) Gitelman syndrome: novel mutation and long-term follow-up. Clinical and Experimental Nephrology
   CrossRef

3. 3

   Hannsjörg W. Seyberth, Karl P. Schlingmann. (2011) Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects. Pediatric Nephrology 26:10, 1789-1802
   CrossRef

4. 4

   Renu Bansal, Vinay K. Ranga. (2011) Acquired Gitelman’s syndrome: an oxymoron?. International Urology and Nephrology 43:1, 233-236
   CrossRef

5. 5

   Cinzia Cortesi, Sebastiano A. G. Lava, Alberto Bettinelli, Fabiana Tammaro, Olivier Giannini, Maria Caiata-Zufferey, Mario G. Bianchetti. (2010) Cardiac arrhythmias and rhabdomyolysis in Bartter–Gitelman patients. Pediatric Nephrology 25:10, 2005-2008
   CrossRef

6. 6

   Tarun Bansal, Sumith Abeygunasekara, Vivienne Ezzat. (2010) An unusual presentation of primary renal hypokalemia–hypomagnesemia (Gitelman's syndrome). Renal Failure 32:3, 407-410
   CrossRef

7. 7

   R. Scognamiglio, L. A. Calò, C. Negut, M. Coccato, P. Mormino, A. C. Pessina. (2008) Myocardial perfusion defects in Bartter and Gitelman syndromes. European Journal of Clinical Investigation 38:12, 888-895
   CrossRef

8. 8

   Kwon Wook Joo, Jay Wook Lee, Hye Ryoun Jang, Nam Ju Heo, Un Sil Jeon, Yun Kyu Oh, Chun Soo Lim, Ki Young Na, Jin Kim, Hae Il Cheong, Jin Suk Han. (2007) Reduced Urinary Excretion of Thiazide-Sensitive Na-Cl Cotransporter in Gitelman Syndrome: Preliminary Data. American Journal of Kidney Diseases 50:5, 765-773
   CrossRef

9. 9

   Eva Riveira-Munoz, Qing Chang, René J. Bindels, Olivier Devuyst. (2007) Gitelman’s syndrome: towards genotype-phenotype correlations?. Pediatric Nephrology 22:3, 326-332
   CrossRef

10. 10

    Coral Hanevold, Ayesa Mian, Rory Dalton. (2006) C1q nephropathy in association with Gitelman syndrome: a case report. Pediatric Nephrology 21:12, 1904-1908
    CrossRef

11. 11

    Nathalie Godefroid, Eva Riveira-Munoz, Christine Saint-Martin, Marie-Cécile Nassogne, Karin Dahan, Olivier Devuyst. (2006) A Novel Splicing Mutation in SLC12A3 Associated With Gitelman Syndrome and Idiopathic Intracranial Hypertension. American Journal of Kidney Diseases 48:5, e73-e79
    CrossRef

12. 12

    Nine V.A.M. Knoers. (2006) Gitelman Syndrome. Advances in Chronic Kidney Disease 13:2, 148-154
    CrossRef