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10.3174/ajnr.A4210

http://scihub22266oqcxt.onion/10.3174/ajnr.A4210
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suck abstract from ncbi


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pmid25572952
      AJNR+Am+J+Neuroradiol 2015 ; 36 (5 ): 863-70
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  • Neurovascular manifestations in hereditary hemorrhagic telangiectasia: imaging features and genotype-phenotype correlations #MMPMID25572952
  • Krings T ; Kim H ; Power S ; Nelson J ; Faughnan ME ; Young WL ; terBrugge KG
  • AJNR Am J Neuroradiol 2015[May]; 36 (5 ): 863-70 PMID25572952 show ga
  • 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.
  • |*Genetic Association Studies [MESH]
  • |Adult [MESH]
  • |Female [MESH]
  • |Humans [MESH]
  • |Intracranial Arteriovenous Malformations/*diagnostic imaging/*genetics [MESH]
  • |Male [MESH]
  • |Middle Aged [MESH]
  • |Radiography [MESH]


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