The genetics of cerebrovascular malformations

Certain rare familial or congenital syndromes include cerebrovascular malformations among their constellations of abnormalities. In addition, recognition of familial clustering in a subset of patients with cerebrovascular malformations has led to studies investigating the underlying genetic basis for these lesions. Genetic defects have been identified that cause familial cerebral cavernous malformations and hereditary hemorrhagic telangiectasia, a syndrome that features cerebral arteriovenous malformations. In addition to enhancing presymptomatic screening, identification of the responsible genes may result in a better understanding of the pathogenesis of these lesions, and ultimately, in novel treatments.