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

## TL;DR

Gitelman syndrome affects water and electrolyte balance, potentially leading to cardiovascular issues and sudden cardiac death.

## Contribution

This paper reviews the physiopathology and clinical management of Gitelman syndrome's cardiovascular implications.

## Key findings

- Gitelman syndrome is linked to metabolic alkalosis and electrolyte imbalances due to a gene mutation.
- Despite RAAS activation, patients may have low or normal blood pressure and reduced vasopressor response.
- Cardiovascular symptoms include fatigue, syncope, and sudden cardiac death.

## Abstract

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.