Cerebral and medullary arteriovenous malformations (AVMs) lead to arterial and venous networks to communicate pathologically, creating an arteriovenous shunt. The occurrence of intracranial haemorrhage is the most important prognostic factor of AVMs because it is associated with a significant morbidity and mortality. The genetic, molecular and cellular mechanisms that cause vascular malformations of the central nervous system are partially known and the influence of genetic damage on the prognosis of AVMs is poorly known.
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.
Pregnant, parturient or breastfeeding woman
The recruited population will be index cases with cerebrovascular cerebral vascular malformations treated in the participating centres
Cohort
Prospective
blood sample
GeneticDuring the arteriography a peripheral venous sampling
Genetic mutation
Presence of a pathogenic mutation in one of the genes tested in the panel or identification of a pathogenic mutation following sequencing of the exome and/or transcriptome of the patient and/or his/her parents.
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