PT  - JOURNAL ARTICLE
AU  - T. Krings
AU  - H. Kim
AU  - S. Power
AU  - J. Nelson
AU  - M.E. Faughnan
AU  - W.L. Young
AU  - K.G. terBrugge
AU  - the Brain Vascular Malformation Consortium HHT Investigator Group
TI  - Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia: Imaging Features and Genotype-Phenotype Correlations
AID  - 10.3174/ajnr.A4210
DP  - 2015 May 01
TA  - American Journal of Neuroradiology
PG  - 863--870
VI  - 36
IP  - 5
4099  - http://www.ajnr.org/content/36/5/863.short
4100  - http://www.ajnr.org/content/36/5/863.full
SO  - Am. J. Neuroradiol.2015 May 01; 36
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