An updated review on the genetics of arteriovenous malformations.

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.