OBJECTIVE Arteriovenous malformations (AVMs) have been thought to be congenital in nature. An increasing number of de novo AVM cases, however, has questioned this doctrine. METHODS A consensus meeting of… Click to show full abstract
OBJECTIVE Arteriovenous malformations (AVMs) have been thought to be congenital in nature. An increasing number of de novo AVM cases, however, has questioned this doctrine. METHODS 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 on the subject was performed using the PubMed medical database. RESULTS All of the participants agreed, that genetic factors may play a role in the pathogenesis of AVMs. All but one participant believed that an underlying genetic predisposition, may be detected later on in a patient's life, while 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. CONCLUSIONS We discuss the current literature on the genetics of AVMs and compare it to the consensus meeting outcomes. The congenital or not character of intracranial AVMs has an impact on the understanding their biological behavior, as well as their efficient short and long management.
               
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