ISSN 2149-2263 | E-ISSN 2149-2271
The Anatolian Journal of Cardiology
Monogenic Hypertension Linked to the Renin–Angiotensin–Aldosterone System [Anatol J Cardiol]
Anatol J Cardiol. Ahead of Print: AJC-25174 | DOI: 10.14744/AnatolJCardiol.2024.4480

Monogenic Hypertension Linked to the Renin–Angiotensin–Aldosterone System

Murat Özdede
Division of General Internal Medicine, Department of Internal Medicine, Hacettepe University Faculty of Medicine, Ankara, Türkiye;Hacettepe University, Center for Genomics and Rare Diseases, Ankara, Türkiye

Mendelian forms of renin–angiotensin–aldosterone system (RAAS)-related hypertension, commonly referred to as monogenic hypertension, represent a rare but significant subset of hypertensive disorders characterized by genetic mutations that disrupt the normal physiological mechanisms of blood pressure regulation. This review focuses on elucidating the germline mutations affecting RAAS pathways that lead to distinct forms of heritable hypertension. By understanding the pathophysiological basis of conditions such as Gordon’s syndrome, Liddle syndrome, congenital adrenal hyperplasia, and familial hyperaldosteronism types, this review aims to highlight the unique clinical features, diagnostic challenges, and therapeutic implications associated with these disorders. Recognizing specific clinical presentations and family histories indicative of monogenic hypertension is crucial for diagnosis, particularly as it often manifests as early-onset hypertension, abnormalities in potassium and blood pH, and occasionally, abnormal sexual development or related syndromes. Therefore, employing a targeted diagnostic approach through next-generation sequencing is essential to pinpoint the responsible genetic mutations, enabling accurate and individualized treatment plans. The critical importance of certain readily available specific channel blockers, such as thiazides or low-dose corticosteroids, in managing these disorders must be emphasized, as they play a key role in preventing serious complications, including cerebrovascular events. As advancements in genetic and molecular sciences continue to evolve, a deeper comprehension of the mechanisms underlying RAAS-related monogenic hypertension promises to revolutionize the management of this complex disorder, offering hope for more effective and individualized treatment options.

Keywords: Genetics, hypertension, pathophysiology, prevention, renin–angiotensin–aldosteron system

Corresponding Author: Murat Özdede
Manuscript Language: English

Journal Metrics

Journal Citation Indicator: 0.18
CiteScore: 1.1
Source Normalized Impact
per Paper:
SCImago Journal Rank: 0.348

Quick Search

Copyright © 2024 The Anatolian Journal of Cardiology

Kare Publishing is a subsidiary of Kare Media.