Genetics of Central Nervous System Arteriovenous Malformations (GENE-MAV)
Genetics of Central Nervous System Arteriovenous Malformations (GENE-MAV)
Cerebral and medullary arteriovenous malformations (AVMs) are morphologically abnormal
 vessels located on the surface or in the cerebral or medullary parenchyma. These vascular
 lesions cause the arterial and venous networks to communicate pathologically, creating an
 arteriovenous shunt.The prevalence of cerebral Cerebral and medullary AVMs in general
 population is difficult to establish given the rarity of the condition. However, it is
 estimated at around 1 per 10,000 inhabitants (0.01%). About 15-20% of the cerebral vascular
 accidents are asymptomatic at the time of diagnosis. The occurrence of intracranial
 haemorrhage is the most important prognostic factor because it is associated with a
 significant morbidity and mortality. The management of an AVM is usually carried out in a
 multidisciplinary way, combining interventional neuroradiology, neurosurgery and vascular
 neurology.

 The genetic, molecular and cellular mechanisms that cause vascular malformations of the
 central nervous system are partially known. Several recent research works highlight mutations
 in the RAS-MAPK or MAPK-ERK signalling pathway in AVMs. In cases of cerebral AVMs considered
 to be sporadic, a somatic KRAS/BRAF mutation has recently been demonstrated in tissue samples
 of operated AVMs.

 Except in the case of Hereditary Haemorrhagic Telangiectasia (HHT or Rendu-Osler-Weber
 syndrome), the influence of genetic damage on the prognosis of AVM is poorly known. It is
 also interesting to note that genetic screening is not routinely performed in patients with
 cerebro-medullary AVMs and that therefore the prevalence of these clinical entities in
 patients with AVMs is not known.
Inclusion Criteria:

 -  Patient with a vascular malformation of the cerebral or medullary identified on
 diagnostic imaging (angio-CT, angio-MRI or diagnostic angiography) for which clinical
 monitoring alone or intervention (endovascular treatment, surgery or radiosurgery) is
 planned in the centres participating in the research.

 Exclusion Criteria:

 -  Pregnant, parturient or breastfeeding woman