SynthesisJournal of neurology, neurosurgery, and psychiatry2007
Familial occurrence of brain arteriovenous malformations: a systematic review.
Synthesis in Journal of neurology, neurosurgery, and psychiatry, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
22 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- KRAS/BRAF mutations in brain arteriovenous malformations: A systematic review and meta-analysis.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2021Pooled it
- Genetic susceptibility to cerebrovascular disease: A systematic review.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2018Pooled it
- A targeted vector for brain endothelial cell gene delivery and cerebrovascular malformation modelling.Nature biomedical engineering · 2026Article
- Molecular and genetic mechanisms in brain arteriovenous malformations: new insights and future perspectives.Neurosurgical review · 2022Review
- Recurrent Vein of Galen Aneurysmal Malformation as a Presentation of Hereditary Hemorrhagic Telangiectasia.Molecular syndromology · 2022Article
- Review
- Fatal intracranial hemorrhage from brain AVM in a 7-week-old infant: case report and recent literature review.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- High-Throughput Sequencing to Detect Novel Likely Gene-Disrupting Variants in Pathogenesis of Sporadic Brain Arteriovenous Malformations.Frontiers in genetics · 2020Article
- Article
- Vis-à-vis: a focus on genetic features of cerebral cavernous malformations and brain arteriovenous malformations pathogenesis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2019Review
- Linking Brain Arteriovenous Malformations With Anorectal Hemorrhoids: A Clinical and Anatomical Review.Anatomical record (Hoboken, N.J. : 2007) · 2017Review
- Genome-wide association study of sporadic brain arteriovenous malformations.Journal of neurology, neurosurgery, and psychiatry · 2016Article
- Pathogenesis of Brain Arteriovenous Malformations.Neurologia medico-chirurgica · 2016Review
- Acute management of brain arteriovenous malformations.Current treatment options in neurology · 2015Article
- Endovascular management of arteriovenous malformations of the brain.Interventional neurology · 2013Review
- Polymorphisms in ACVRL1 and endoglin genes are not associated with sporadic and HHT-related brain AVMs in Dutch patients.Translational stroke research · 2013Article
- A genome-wide investigation of copy number variation in patients with sporadic brain arteriovenous malformation.PloS one · 2013Article
- Sudden death from ruptured intracranial vascular malformation.Forensic science, medicine, and pathology · 2011Article
- EPHB4 gene polymorphisms and risk of intracranial hemorrhage in patients with brain arteriovenous malformations.Circulation. Cardiovascular genetics · 2009Article
- Genetic considerations relevant to intracranial hemorrhage and brain arteriovenous malformations.Acta neurochirurgica. Supplement · 2008Review
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBrain arteriovenous malformations (BAVMs) are thought to be sporadic developmental vascular lesions, but familial occurrence has been described. We compared the characteristics of patients with familial BAVMs with those of patients with sporadic BAVMs.
methodsWe systematically reviewed the literature on patients with familial BAVMs. Three families that were found in our centre were added. Age, sex distribution and clinical presentation of the identified patients were compared with those in population based series of patients with sporadic BAVMs. Furthermore, we calculated the difference in mean age at diagnosis of parents and children to study possible anticipation.
resultsWe identified 53 patients in 25 families with BAVMs. Mean age at diagnosis of patients with familial BAVMs was 27 years (range 9 months to 58 years), which was younger than in the reference population (difference between means 8 years, 95% CI 3 to 13 years). Patients with familial BAVMs did not differ from the reference populations with respect to sex or mode of presentation. In families with BAVMs in successive generations, the age of the child at diagnosis was younger than the age of the parent (difference between means 22 years, 95% CI 13 to 30 years), which suggests clinical anticipation.
conclusionsFew patients with familial BAVMs have been described. These patients were diagnosed at a younger age than sporadic BAVMs whereas their mode of presentation was similar. Although there are indications of anticipation, it remains as yet unclear whether the described families represent accidental aggregation or indicate true familial occurrence of BAVMs.
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