ArticleAJNR. American journal of neuroradiology2016
Neurovascular Manifestations of Hereditary Hemorrhagic Telangiectasia: A Consecutive Series of 376 Patients during 15 Years.
Article in AJNR. American journal of neuroradiology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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27 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Co-existing of craniofacial fibrous dysplasia and cerebrovascular diseases: a series of 22 cases and review of the literature.Orphanet journal of rare diseases · 2021Pooled it
- Natural history of brain arteriovenous malformations in hereditary hemorrhagic telangiectasia: a longitudinal neuroimaging study and review of the literature.Neuroradiology · 2026Article
- Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.Journal of neurology · 2026Article
- Common and distinct circulating microRNAs in four neurovascular disorders.Biochemistry and biophysics reports · 2025Article
- Ruptured distal middle cerebral artery aneurysm in a pediatric patient: illustrative case.Journal of neurosurgery. Case lessons · 2025Article
- Hereditary haemorrhagic telangiectasia.Nature reviews. Disease primers · 2025Review
- Medical and Interventional Management of Hereditary Hemorrhagic Telangiectasia.Seminars in interventional radiology · 2024Review
- Hereditary Hemorrhagic Telangiectasia in a Patient Undergoing Hemodialysis with Anticoagulants and Antiplatelets.Internal medicine (Tokyo, Japan) · 2024Article
- High risk of ischaemic stroke amongst patients with hereditary haemorrhagic telangiectasia.European journal of neurology · 2024Article
- Prevalence and Characteristics of Intracranial Aneurysms in Hereditary Hemorrhagic Telangiectasia.AJNR. American journal of neuroradiology · 2023Article
- VEGFR2 Expression Correlates with Postnatal Development of Brain Arteriovenous Malformations in a Mouse Model of Type I Hereditary Hemorrhagic Telangiectasia.Biomedicines · 2023Article
- Comment on Kilian et al. Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.Journal of clinical medicine · 2023Article
- Comparing Characteristics and Treatment of Brain Vascular Malformations in Children and Adults with HHT.Journal of clinical medicine · 2023Article
- Combined transarterial and transvenous embolization of multi-hole pial arteriovenous fistula with large varix.The neuroradiology journal · 2022Article
- Prevalence of Intracranial Aneurysms in Hereditary Hemorrhagic Telangiectasia: Report from a Single Reference Center.AJNR. American journal of neuroradiology · 2022Article
- Distribution of Cerebrovascular Phenotypes According to Variants of theJournal of clinical medicine · 2022Article
- Imaging to intervention: a review of what the Interventionalist needs to Know about Hereditary Hemorrhagic Telangiectasia.CVIR endovascular · 2021Review
- Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia.Orphanet journal of rare diseases · 2021Article
- Systemic and CNS manifestations of inherited cerebrovascular malformations.Clinical imaging · 2021Review
- Potential Second-Hits in Hereditary Hemorrhagic Telangiectasia.Journal of clinical medicine · 2020Review
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8 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
background and purposeHereditary hemorrhagic telangiectasia is associated with a wide range of neurovascular abnormalities. The aim of this study was to characterize the spectrum of cerebrovascular lesions, including brain arteriovenous malformations, in patients with hereditary hemorrhagic telangiectasia and to study associations between brain arteriovenous malformations and demographic variables, genetic mutations, and the presence of AVMs in other organs. MATERIALS AND
methodsConsecutive patients with definite hereditary hemorrhagic telangiectasia who underwent brain MR imaging/MRA, CTA, or DSA at our institution from 2001 to 2015 were included. All studies were re-evaluated by 2 senior neuroradiologists for the presence, characteristics, location, and number of brain arteriovenous malformations, intracranial aneurysms, and nonshunting lesions. Brain arteriovenous malformations were categorized as high-flow pial fistulas, nidus-type brain AVMs, and capillary vascular malformations and were assigned a Spetzler-Martin score. We examined the association between baseline clinical and genetic mutational status and the presence/multiplicity of brain arteriovenous malformations.
resultsThree hundred seventy-six patients with definite hereditary hemorrhagic telangiectasia were included. One hundred ten brain arteriovenous malformations were noted in 48 patients (12.8%), with multiple brain arteriovenous malformations in 26 patients. These included 51 nidal brain arteriovenous malformations (46.4%), 58 capillary vascular malformations (52.7%), and 1 pial arteriovenous fistula (0.9%). Five patients (10.4%) with single nidal brain arteriovenous malformation presented with hemorrhage. Of brain arteriovenous malformations, 88.9% (88/99) had a Spetzler-Martin score of ≤2. Patients with brain arteriovenous malformations were more likely to be female (75.0% versus 57.6%, P = .01) and have a family history of hereditary hemorrhagic telangiectasia (95.8% versus 84.8%, P = .04). The prevalence of brain arteriovenous malformation was 19.7% in endoglin (ENG) mutations and 12.5% in activin receptor-like kinase (1ACVRL1) mutations.
conclusionsOur study of 376 patients with hereditary hemorrhagic telangiectasia demonstrated a high prevalence of brain arteriovenous malformations. Nidal brain arteriovenous malformations and capillary vascular malformations occurred in roughly equal numbers.
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