The Impact of Gitelman Syndrome on Cardiovascular Disease: From Physiopathology to Clinical Management

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.

Automated summary

Gitelman syndrome is a hereditary tubulopathy that causes disturbances in water-electrolyte balance and can lead to cardiovascular issues. Symptoms include fatigue, syncope, and blurred vision.