arteriovenous malformations of the brain
Findings
No curated finding names arteriovenous malformations of the brain yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Cerebral arteriovenous malformation (AVM) is a congenital malformative communication between the veins and the arteries in the brain in the form of a nidus, an anatomical structure composed of dilated and tangled supplying arterioles and drainage veins with no intervening capillary bed, that can be asymptomatic or cause, depending on the location and the size of the AVM, headaches of varying severity, generalized or focal seizures, focalneurological defects (weakness, numbness, speech difficulties, vision loss) or potentially fatal intracranial hemorrhage in case the AVM ruptures.
Definition from the Mondo Disease Ontology (MONDO:0007154), read 2026-09-29. CC BY 4.0.
- Inheritance
- Typified by somatic mosaicism
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal cerebral vascular morphologyHPOHP:0100659
- Very frequent (80% to 99% of cases)
- Peripheral arteriovenous fistulaHPOHP:0100784
- Very frequent (80% to 99% of cases)
- Visceral angiomatosisHPOHP:0100761
- Very frequent (80% to 99% of cases)
- Cerebral hemorrhageHPOHP:0001342
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- Intraventricular hemorrhage
Where it sits
Other names
5 names
Resolves to: arteriovenous malformations of the brain
- Also called
- arteriovenous malformation of the brain, somaticcerebral arteriovenous malformationintracranial arteriovenous malformationintracranial haemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutationintracranial hemorrhage in brain cerebrovascular malformations, susceptibility to, somatic mutation