• T Krings, H Kim, S Power, J Nelson, M E Faughnan, W L Young, K G terBrugge, and Brain Vascular Malformation Consortium HHT Investigator Group.
• From the Division of Neuroradiology (T.K., S.P., K.G.t.B.), Department of Medical Imaging Division of Neurosurgery (T.K.), Department of Surgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada Timo.Krings@uhn.ca.
• AJNR Am J Neuroradiol. 2015 May 1; 36 (5): 863-70.

Background And PurposeHereditary hemorrhagic telangiectasia is an autosomal dominant disease that presents in 10%-20% of patients with various brain vascular malformations. We aimed to report the radiologic features (phenotype) and the genotype-phenotype correlations of brain vascular malformations in hereditary hemorrhagic telangiectasia.Materials And MethodsDemographic, clinical, genotypic, and imaging information of 75 patients with hereditary hemorrhagic telangiectasia with brain arteriovenous malformations enrolled in the Brain Vascular Malformation Consortium from 2010 to 2012 were reviewed.ResultsNonshunting, small, superficially located conglomerates of enhancing vessels without enlarged feeding arteries or draining veins called "capillary vascular malformations" were the most commonly observed lesion (46 of 75 patients; 61%), followed by shunting "nidus-type" brain AVMs that were typically located superficially with a low Spetzler-Martin Grade and a small size (32 of 75 patients; 43%). Direct high-flow fistulous arteriovenous shunts were present in 9 patients (12%). Other types of vascular malformations (dural AVF and developmental venous anomalies) were present in 1 patient each. Multiplicity of vascular malformations was seen in 33 cases (44%). No statistically significant correlation was observed between hereditary hemorrhagic telangiectasia gene mutation and lesion type or lesion multiplicity.ConclusionsDepending on their imaging features, brain vascular malformations in hereditary hemorrhagic telangiectasia can be subdivided into brain AVF, nidus-type AVM, and capillary vascular malformations, with the latter being the most common phenotype in hereditary hemorrhagic telangiectasia. No genotype-phenotype correlation was observed among patients with this condition.© 2015 by American Journal of Neuroradiology.

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