An arteriovenous malformation (AVM) occurs when there is a direct connection from an artery to a vein rather than the normal connection of artery to capillary to vein, creating an abnormal connection with high blood speed and turbulent flow. An AVM can occur anywhere in the body. Approximately 1 in 100,000 people has an AVM within the brain or spinal cord. This abnormal connection and high-speed flow can lead to rupture and bleeding, which can be especially devastating in the tight confines of the skull. Half of all brain AVMs are found after they have ruptured as a hemorrhagic stroke.
The genetics of AVMs are poorly understood, but our study seeks insight into the molecular factors that contribute to their complex development. Better understanding of AVM genetics could improve future preventative, diagnostic, and therapeutic strategies.
We are actively recruiting all patients with a formal radiographic diagnosis of brain or spinal cord AVMs. Affected individuals and their families are welcomed and encouraged to participate!