Arteriovenous Malformations: Congenital or Acquired Lesions?

Arteriovenous malformations (AVMs) were believed to be congenital. However, an increasing number of de novo AVM cases have questioned this doctrine.

A consensus meeting of international experts attempted to establish a consensus on the nature of these relatively rare but challenging vascular lesions. In addition, an extensive search of the subject was performed using the PubMed medical database.

All participants agreed that genetic factors may play a role in the pathogenesis of AVMs. All but 1 participant believed that an underlying genetic predisposition may be detected later on in a patient's life, whereas genetic variations may contribute to sporadic AVM formation. The presence of genetic variations alone may not be enough for an AVM formation. A second hit is probably required. This consensus opinion is also supported by our literature search.

We discuss the literature on the genetics of AVMs and compare it with the consensus meeting outcomes. The congenital or noncongenital character of intracranial AVMs has an impact on the understanding their biological behavior, as well as their efficient short-term and long-term management.