Arteriovenous Malformations of the Brain (BAVM)

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GARD: ¹⁹ Intracranial arteriovenous malformations (AVMs) are abnormal connections between the arteries and veins in the brain. Most people with brain or spinal AVMs experience few, if any, major symptoms. About 12 percent of people with this condition experience symptoms that vary greatly in severity. Seizures and headaches are the most common symptoms of AVMs but individuals can also experience a wide range of other neurological symptoms. AVMs can cause hemorrhage (bleeding) in the brain, which can be fatal. Symptoms can appear at any age, but are most often noticed when people are in their twenties, thirties, or forties. The cause of AVMs is not yet well understood but it is believed that AVMs result from mistakes that occur during embryonic or fetal development.

MalaCards based summary: Arteriovenous Malformations of the Brain, also known as cerebral arteriovenous malformation, is related to arteriovenous malformation and hereditary hemorrhagic telangiectasia. An important gene associated with Arteriovenous Malformations of the Brain is KRAS (KRAS Proto-Oncogene, GTPase), and among its related pathways/superpathways are PAK Pathway and Nanog in Mammalian ESC Pluripotency. The drugs Lovastatin and L 647318 have been mentioned in the context of this disorder. Affiliated tissues include brain, endothelial and heart, and related phenotypes are visceral angiomatosis and peripheral arteriovenous fistula

Orphanet: ⁵⁸ 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.

OMIM®: ⁵⁷ Arteriovenous malformations of the brain are tortuous, morphologically abnormal vascular channels between arteries and veins that lack an intervening capillary network, allowing high-pressure arterial blood from feeding arteries to shunt directly into the venous outflow system. These vascular malformations occur in approximately 15 per 100,000 persons and are a leading cause of hemorrhagic stroke in young adults and children (summary by Nikolaev et al., 2018). (108010) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A central nervous system benign neoplasm that derives from endothelial cells and that is located in the brain.

Wikipedia: ⁷⁵ A cerebral arteriovenous malformation (cerebral AVM, CAVM, cAVM) is an abnormal connection between the... more...

Clinical features from OMIM®:

Search NIH Clinical Center for Arteriovenous Malformations of the Brain