Cerebral cavernous malformations (CMs) are abnormal collections of capillaries in the brain that are prone to vascular leakage. CMs can cause severe neurological symptoms such as seizures, focal neurologic deficits, and hemorrhagic strokes. Approximately 0.1-0.5% of the general population have CMs. While asymptomatic CMs are radiographically monitored, symptomatic CMs may be surgically removed. There are significant challenges prognosticating and predicting CM outcomes.
A significant percentage of CM cases, between 10-50% in some populations, are familial- suggesting a strong genetic component to CM pathogenesis. Nonetheless, a significant percentage are sporadic and the overwhelming majority of CM do not have genetic variants identified. Our team is determined to uncover the genetic causes of CM and improve the lives of patients. Affected individuals and their families are welcomed and encouraged to participate!