IMR Press / RCM / Volume 23 / Issue 8 / DOI: 10.31083/j.rcm2308289
Open Access Review
The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management
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1 Department of Experimental Medicine, University of Rome “Tor Vergata'', 00133 Rome, Italy
2 Mediterranea Cardiocentro, 80122 Naples, Italy
3 Humanitas Gavazzeni, 24125 Bergamo, Italy
4 Division of Cardiology, Fondazione Policlinico “Tor Vergata'', 00133 Rome, Italy
*Correspondence: (Saverio Muscoli)
Academic Editor: Fabian Sanchis-Gomar
Rev. Cardiovasc. Med. 2022, 23(8), 289;
Submitted: 5 May 2022 | Revised: 6 July 2022 | Accepted: 26 July 2022 | Published: 17 August 2022
(This article belongs to the Special Issue Sudden Cardiac Death in Special Population)
Copyright: © 2022 The Author(s). Published by IMR Press.
This is an open access article under the CC BY 4.0 license.

Gitelman syndrome (GS), or congenital hypokalemic hypomagnesemia hypocalciuria with metabolic alkalosis, is a congenital inherited tubulopathy. This tubulopathy is associated with disorders of water-electrolyte homeostasis, such as metabolic alkalosis, hypokalemia, hyponatremia, hypomagnesemia and hypocalciuria. GS has an autosomal recessive inheritance. The loss-of-function mutation involves the gene that codifies for thiazide-sensitive sodium-chloride co-transporter located in the distal convoluted tubule. The physiopathology of the syndrome is characterized by activation of the renin-angiotensin-aldosterone system (RAAS) with a low plasmatic concentration of angiotensin-II. Despite hyper-activation of RAAS, average or low blood pressure is detected in association with low peripheral resistance and reduced response to vasopressors. Clinical findings are brief episodes of fatigue, syncope, vertigo, ataxia and blurred vision; sudden cardiac death might occur. This review aims to give insight into cardiovascular implications and management of GS.

Gitelman syndrome
sudden cardiac death
metabolic alkalosis
heart failure
Fig. 1.
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