Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
Mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in visceral organs (primarily lungs, brain, liver)
IMAGING
General Features
CT Findings
MR Findings
Angiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Gamboa NT et al: Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. J Clin Neurosci. 51:22-8, 2018
Meybodi AT et al: Surgical treatment vs nonsurgical treatment for brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a retrospective multicenter consortium study. Neurosurgery. 82(1):35-47, 2018
Palagallo GJ et al: The prevalence of malformations of cortical development in a pediatric hereditary hemorrhagic telangiectasia population. AJNR Am J Neuroradiol. 38(2):383-6, 2017
Brinjikji W et al: Neurovascular manifestations of hereditary hemorrhagic telangiectasia: a consecutive series of 376 patients during 15 years. AJNR Am J Neuroradiol. 37(8):1479-86, 2016
Labeyrie PE et al: Neurological involvement in hereditary hemorrhagic telangiectasia. J Neuroradiol. 43(4):236-45, 2016
Kim H et al: Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke. 46(5):1362-4, 2015
Komiyama M et al: Neuroradiological manifestations of hereditary hemorrhagic telangiectasia in 139 Japanese patients. Neurol Med Chir (Tokyo). 55(6):479-86, 2015
Krings T et al: Neurovascular manifestations in hereditary hemorrhagic telangiectasia: Imaging features and genotype-Phenotype Correlations. AJNR Am J Neuroradiol. ePub, 2015
McDonald J et al: Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 6:1, 2015
Shovlin CL: Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia. Front Genet. 6:101, 2015
Tørring PM et al: Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. Microvasc Res. 99:118-126, 2015
Woodall MN et al: Cerebral vascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg. 120(1):87-92, 2014
Chen KH et al: Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation. BMJ Case Rep. 2013, 2013
Koubaa M et al: Actinomycotic brain abscess as the first clinical manifestation of hereditary hemorrhagic telangiectasia--case report and review of the literature. Ann Hematol. 92(8):1141-3, 2013
Saleh M et al: Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. Pediatr Neurol. 49(6):445-50, 2013
McDonald J et al: Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 13(7):607-16, 2011
Carette MF et al: Imaging of hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. 32(4):745-57, 2009
Giordano P et al: HHT in childhood: screening for special patients. Curr Pharm Des. 12(10):1221-5, 2006
Krings T et al: Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. Neuroradiology. 47(12):946-54, 2005
Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
Mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in visceral organs (primarily lungs, brain, liver)
IMAGING
General Features
CT Findings
MR Findings
Angiographic Findings
Imaging Recommendations
DIFFERENTIAL DIAGNOSIS
PATHOLOGY
General Features
Staging, Grading, & Classification
Gross Pathologic & Surgical Features
Microscopic Features
CLINICAL ISSUES
Presentation
Demographics
Natural History & Prognosis
Treatment
DIAGNOSTIC CHECKLIST
Consider
Image Interpretation Pearls
Selected References
Gamboa NT et al: Clinical presentation and treatment paradigms of brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia. J Clin Neurosci. 51:22-8, 2018
Meybodi AT et al: Surgical treatment vs nonsurgical treatment for brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: a retrospective multicenter consortium study. Neurosurgery. 82(1):35-47, 2018
Palagallo GJ et al: The prevalence of malformations of cortical development in a pediatric hereditary hemorrhagic telangiectasia population. AJNR Am J Neuroradiol. 38(2):383-6, 2017
Brinjikji W et al: Neurovascular manifestations of hereditary hemorrhagic telangiectasia: a consecutive series of 376 patients during 15 years. AJNR Am J Neuroradiol. 37(8):1479-86, 2016
Labeyrie PE et al: Neurological involvement in hereditary hemorrhagic telangiectasia. J Neuroradiol. 43(4):236-45, 2016
Kim H et al: Hemorrhage rates from brain arteriovenous malformation in patients with hereditary hemorrhagic telangiectasia. Stroke. 46(5):1362-4, 2015
Komiyama M et al: Neuroradiological manifestations of hereditary hemorrhagic telangiectasia in 139 Japanese patients. Neurol Med Chir (Tokyo). 55(6):479-86, 2015
Krings T et al: Neurovascular manifestations in hereditary hemorrhagic telangiectasia: Imaging features and genotype-Phenotype Correlations. AJNR Am J Neuroradiol. ePub, 2015
McDonald J et al: Hereditary hemorrhagic telangiectasia: genetics and molecular diagnostics in a new era. Front Genet. 6:1, 2015
Shovlin CL: Circulatory contributors to the phenotype in hereditary hemorrhagic telangiectasia. Front Genet. 6:101, 2015
Tørring PM et al: Global gene expression profiling of telangiectasial tissue from patients with hereditary hemorrhagic telangiectasia. Microvasc Res. 99:118-126, 2015
Woodall MN et al: Cerebral vascular malformations in hereditary hemorrhagic telangiectasia. J Neurosurg. 120(1):87-92, 2014
Chen KH et al: Brain abscess as an initial presentation in a patient of hereditary haemorrhagic telangiectasia caused by a novel ENG mutation. BMJ Case Rep. 2013, 2013
Koubaa M et al: Actinomycotic brain abscess as the first clinical manifestation of hereditary hemorrhagic telangiectasia--case report and review of the literature. Ann Hematol. 92(8):1141-3, 2013
Saleh M et al: Brain arteriovenous malformations in patients with hereditary hemorrhagic telangiectasia: clinical presentation and anatomical distribution. Pediatr Neurol. 49(6):445-50, 2013
McDonald J et al: Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis. Genet Med. 13(7):607-16, 2011
Carette MF et al: Imaging of hereditary hemorrhagic telangiectasia. Cardiovasc Intervent Radiol. 32(4):745-57, 2009
Giordano P et al: HHT in childhood: screening for special patients. Curr Pharm Des. 12(10):1221-5, 2006
Krings T et al: Hereditary hemorrhagic telangiectasia in children: endovascular treatment of neurovascular malformations: results in 31 patients. Neuroradiology. 47(12):946-54, 2005
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