Are parenchymal AVMs congenital lesions?

Abstract

A long-held dogma in neurosurgery is that parenchymal arteriovenous malformations (AVMs) are congenital. However, there is no strong evidence supporting this theory. An increasing number of documented cases of de novo formation of parenchymal AVMs cast doubt on their congenital nature and suggest that indeed the majority of these lesions may form after birth. Further evidence suggesting the postnatal development of parenchymal AVMs comes from the exceedingly rare diagnosis of these lesions in utero despite the widespread availability of high-resolution imaging modalities such as ultrasound and fetal MRI. The exact mechanism of AVM formation has yet to be elucidated, but most likely involves genetic susceptibility and environmental triggering factors. In this review, the authors report 2 cases of de novo AVM formation and analyze the evidence suggesting that they represent an acquired condition.

Keywords: AVM = arteriovenous malformation; CNV = copy number variation; HHT = hereditary hemorrhagic telangiectasia; ICA = internal carotid artery; SNP = single-nucleotide polymorphism; central nervous system vascular malformations; cerebral arteriovenous malformations; cerebrovascular disorders; de novo development.