[Genetic factors related to intracranial arteriovenous malformations]

Genetic studies are interesting not only in the diagnosis and screening of new cases within a family harboring a particular disease, but also in understanding the underlying genetic and molecular factors related to that disease. Such studies revealed 3 categories of cerebral arteriovenous malformations in relationship to possible genetic factors. The first one concerns cerebral arteriovenous malformations in relationship to inherited diseases where a genetic support is clearly identified. Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) represents the most classical picture. The second category corresponds to familial cases of cerebral arteriovenous malformations were several members and relatives of the same family harboring the pathology without clear demonstration of any genetic basis. The third category includes cerebral arteriovenous malformations described in association with neurocutaneous disorders issued from maldevelopment events. Sturge-Weber disease and Wyburn-Mason syndrome best illustrate this category. A review of these categories will help in a better understanding of some genetic issues related to cerebral arteriovenous malformations.