SynthesisNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2025
Cerebrovascular malformations different from AVMs in patients with hereditary hemorrhagic telangiectasia: a systematic review.
Synthesis in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed.
- Genotype-driven cerebrovascular risk across age and sex in hereditary hemorrhagic telangiectasia.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Genotype-phenotype correlations and protein domain-level predictors of cerebrovascular malformations in hereditary hemorrhagic telangiectasia.Journal of neurology · 2026Article
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Abstract
backgroundHereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by abnormal vascular formations across multiple organ systems, including the brain. While arteriovenous malformations (AVMs) are well recognized in HHT, non-AVM cerebrovascular malformations remain underreported and poorly understood manifestations of the disease.
methodsA systematic review was conducted using multiple databases, applying a two-step screening process to exclude studies with insufficient, irrelevant, or incomplete data. Studies published between 1978 and 2024 were analyzed. The characteristics, clinical presentation, and frequency of non-AVM cerebrovascular malformations, including aneurysms and dural arteriovenous fistulas (dAVFs), were assessed. Pooled prevalence estimates were calculated using a random-effects meta-analysis model.
resultsA total of 1,639 patients with a confirmed diagnosis of HHT were included from 22 studies. The pooled prevalence of non-AVM cerebrovascular malformations was as follows: dural arteriovenous fistulas (dAVFs) 1.2% (95% CI: 0.2-2.2%, p = 0.017, I²=85.89%), intracranial aneurysms (IAs) 3.3% (95% CI: 1.5-5.2%, p < 0.001, I²=88.68%), developmental venous anomalies (DVAs) 0.2% (95% CI: 0.0-0.5%, p = 0.069, I²=0%), cavernous angiomas 0.2% (95% CI: 0.0-0.5%, p = 0.058, I²=0%), and capillary vascular malformations (CVMs) 0.4% (95% CI: - 0.1-0.9%, p = 0.078, I²=14.34%). Subgroup analysis showed higher IA prevalence in studies lacking systematic screening. Genotype data, when available, suggested ACVRL1 mutations were more common among patients with IAs, while ENG mutations were more frequently associated with brain AVMs and micro-AVMs.
conclusionNon-AVM cerebrovascular malformations occur in HHT, with dAVFs showing the strongest association. Other lesions appear sporadic. Genetic subtype may influence lesion type.
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