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KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
- Hereditary hemorrhagic telangiectasia (HHT)
Synonyms
- Rendu-Osler, Rendu-Osler-Weber, Osler-Weber-Rendu syndrome
Definitions
- Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
- Mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in visceral organs (primarily lungs, brain, liver)
- Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
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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References
Tables
Tables
KEY FACTS
Terminology
Imaging
Pathology
Clinical Issues
Diagnostic Checklist
TERMINOLOGY
Abbreviations
- Hereditary hemorrhagic telangiectasia (HHT)
Synonyms
- Rendu-Osler, Rendu-Osler-Weber, Osler-Weber-Rendu syndrome
Definitions
- Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
- Mucocutaneous telangiectasias and arteriovenous malformations (AVMs) in visceral organs (primarily lungs, brain, liver)
- Autosomal dominant disorder with widely distributed, multisystem angiodysplastic lesions
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
