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ORIGINAL RESEARCH ARTICLE

An updated review on the genetics of arteriovenous malformations

Krisna Maddy1 ,  Anjalika Chalamgari1 ,  Ogechukwu Ariwodo1 ,  Zhuri Nisseau-Bey1 ,  Justin Maldonado1 ,  Brandon Lucke-Wold1*
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1 Department of Neurosurgery, University of Florida, Gainesville, Florida, USA
GPD 2023, 2(2), 0312 https://doi.org/10.36922/gpd.0312
Submitted: 3 March 2023 | Accepted: 7 June 2023 | Published: 26 June 2023
© 2023 by the Author(s). This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution 4.0 International License ( https://creativecommons.org/licenses/by/4.0/ )
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Abstract

Arteriovenous malformations (AVM) are congenital malformations of the cerebral vasculature resulting in pathological shunting of blood through dilated arteries and veins. The most common clinical manifestations of AVM are intracerebral hemorrhage, due to rupture of these lesions as they continue to expand, which can have devastating neurological consequences and residual deficits. The genetic underpinnings of AVM have been explored for their role in the angiogenesis of these lesions in both its sporadic and inherited forms. In recent times, our understanding of the genetic variation involved in the pathogenesis AVM has advanced in both the preclinical and clinical realms. The current review highlights in detail these advancements, namely, the genetic underpinnings of diagnostic testing and profiling of AVM, and the preclinical epigenetic and genetic data on AVM pathogenesis and growth. In addition, we review the current candidate genes implicated in AVM pathogenesis in the literature. Finally, we provide a discussion on the genetic conditions associated with AVM and the advancements in treatment paradigms influenced by the genetic profiles of these lesions.

Keywords
Arteriovenous malformations
Intracerebral hemorrhage
Genetics
Capillary malformations
Funding
None.
Conflict of interest
The authors have no personal, financial, or institutional interest in any of the drugs, materials, or devices described in this article.
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Gene & Protein in Disease, Electronic ISSN: 2811-003X Published by AccScience Publishing
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