RT Journal Article
SR Electronic
T1 Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia: Imaging Features and Genotype-Phenotype Correlations
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
DO 10.3174/ajnr.A4210
A1 T. Krings
A1 H. Kim
A1 S. Power
A1 J. Nelson
A1 M.E. Faughnan
A1 W.L. Young
A1 K.G. ter Brugge
YR 2015
UL http://www.ajnr.org/content/early/2015/01/08/ajnr.A4210.abstract
AB BACKGROUND AND PURPOSE: Hereditary 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 METHODS: Demographic, 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. RESULTS: Nonshunting, 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. CONCLUSIONS: Depending 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. Abbreviations CVMcapillary vascular malformationHHThereditary hemorrhagic telangiectasia