title: Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations.
abstract: OBJECTIVE
  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.
  
  
  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.
authors.affiliation: From the Division of Neuroradiology (T.K., S.P., K.G.t.B.), Department of Medical Imaging Division of Neurosurgery (T.K.), Department of Surgery, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada Timo.Krings@uhn.ca.
authors.forename: T
authors.initials: T
authors.lastname: Krings
authors.affiliation: Department of Anesthesia and Perioperative Care (H.K., J.N., W.L.Y.), Center for Cerebrovascular Research Department of Epidemiology and Biostatistics (H.K.), University of California San Francisco, San Francisco, California.
authors.forename: H
authors.initials: H
authors.lastname: Kim
authors.affiliation: From the Division of Neuroradiology (T.K., S.P., K.G.t.B.), Department of Medical Imaging.
authors.forename: S
authors.initials: S
authors.lastname: Power
authors.affiliation: Department of Anesthesia and Perioperative Care (H.K., J.N., W.L.Y.), Center for Cerebrovascular Research.
authors.forename: J
authors.initials: J
authors.lastname: Nelson
authors.affiliation: Division of Respirology (M.E.F.), Department of Medicine and Li Ka Shing Knowledge Institute, St. Michael's Hospital, Toronto, Ontario, Canada Division of Respirology (M.E.F.), Department of Medicine, University of Toronto, Toronto, Ontario, Canada.
authors.forename: M E
authors.initials: ME
authors.lastname: Faughnan
authors.affiliation: Department of Anesthesia and Perioperative Care (H.K., J.N., W.L.Y.), Center for Cerebrovascular Research.
authors.forename: W L
authors.initials: WL
authors.lastname: Young
authors.affiliation: From the Division of Neuroradiology (T.K., S.P., K.G.t.B.), Department of Medical Imaging.
authors.forename: K G
authors.initials: KG
authors.lastname: terBrugge
mesh_terms: D000328:Adult; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000000981:diagnostic imaging* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D011859:Radiography; D013683:Telangiectasia, Hereditary Hemorrhagic / Q000000981:diagnostic imaging* / Q000235:genetics*