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
SP 863
OP 870
DO 10.3174/ajnr.A4210
VO 36
IS 5
A1 T. Krings
A1 H. Kim
A1 S. Power
A1 J. Nelson
A1 M.E. Faughnan
A1 W.L. Young
A1 K.G. terBrugge
A1 the Brain Vascular Malformation Consortium HHT Investigator Group
YR 2015
UL http://www.ajnr.org/content/36/5/863.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.CVMcapillary vascular malformationHHThereditary hemorrhagic telangiectasia