Journal
AMERICAN JOURNAL OF NEURORADIOLOGY
Volume 36, Issue 5, Pages 863-870Publisher
AMER SOC NEURORADIOLOGY
DOI: 10.3174/ajnr.A4210
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Funding
- National Institutes of Health Office of Rare Diseases Research at the National Center for Advancing Translational Sciences
- National Institute of Neurological Disorders and Stroke
- Nelson Arthur Hyland Foundation
- Li Ka Shing Knowledge Institute
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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.
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