TY - JOUR
T1 - Neurovascular Manifestations in Hereditary Hemorrhagic Telangiectasia
T2 - Imaging Features and Genotype-Phenotype Correlations
AU - the Brain Vascular Malformation Consortium HHT Investigator Group
AU - Krings, Timo
AU - Kim, Helen
AU - Power, S.
AU - Nelson, J.
AU - Faughnan, Marie E.
AU - Young, William L.
AU - ter Brugge, Karel G.
AU - Chakinala, Murali
AU - Gossage, James R.
AU - Henderson, Katharine
AU - Iyer, Vivek
AU - Kasthuri, Raj
AU - Lawton, Michael T.
AU - Lin, Doris
AU - Mager, Johannes Jurgen
AU - McWilliams, Justin
AU - McDonald, Jamie
AU - Pawlikowska, Ludmila
AU - Pollak, Jeffrey
AU - Ratjen, Felix
AU - Swanson, Karen
AU - Vethanayagam, Dilini
AU - White, Andrew
AU - White, Robert I.
AU - Wilcox, Pearce
N1 - Funding Information:
The Brain Vascular Malformation Consortium (U54NS065705) is a part of the National Institutes of Health Rare Diseases Clinical Research Network, supported through collaboration between the National Institutes of Health Office of Rare Diseases Research at the National Center for Advancing Translational Sciences and the National Institute of Neurological Disorders and Stroke. Other financial support to M. Faughnan is from the Nelson Arthur Hyland Foundation and the Li Ka Shing Knowledge Institute.
Publisher Copyright:
© 2015 American Society of Neuroradiology. All rights reserved.
PY - 2015/5/1
Y1 - 2015/5/1
N2 - 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.
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.
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U2 - 10.3174/AJNR.A4210
DO - 10.3174/AJNR.A4210
M3 - Article
C2 - 25572952
AN - SCOPUS:84965086577
VL - 36
SP - 863
EP - 870
JO - American Journal of Neuroradiology
JF - American Journal of Neuroradiology
SN - 0195-6108
IS - 5
ER -