Familial occurrence of brain arteriovenous malformations: a systematic review
Open Access
- 1 November 2007
- journal article
- review article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 78 (11), 1213-1217
- https://doi.org/10.1136/jnnp.2006.112227
Abstract
Brain 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. We 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. We 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. Few 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.Keywords
This publication has 49 references indexed in Scilit:
- Apolipoprotein Eɛ2 Is Associated with New Hemorrhage Risk in Brain Arteriovenous MalformationsNeurosurgery, 2006
- SMAD4 mutations found in unselected HHT patientsJournal of Medical Genetics, 2006
- Tumor Necrosis Factor-α–238G>A Promoter Polymorphism Is Associated With Increased Risk of New Hemorrhage in the Natural Course of Patients With Brain Arteriovenous MalformationsStroke, 2006
- Polymorphisms in Transforming Growth Factor-β-Related Genes ALK1 and ENG Are Associated With Sporadic Brain Arteriovenous MalformationsStroke, 2005
- Long-Term Hemorrhage Risk in Children Versus Adults With Brain Arteriovenous MalformationsStroke, 2005
- Genotype-phenotype relationship in hereditary haemorrhagic telangiectasiaJournal of Medical Genetics, 2005
- Prospective, Population-Based Detection of Intracranial Vascular Malformations in AdultsStroke, 2003
- The New York Islands AVM StudyStroke, 2003
- Central nervous system arteriovenous malformations with hereditary hemorrhagic telangiectasia: Report of a family with three casesSurgical Neurology, 1994
- Familial intracranial aneurysms. A review.Stroke, 1992