Some arteriovenous malformations can be associated with genetic abnormalities such as PTEN mutations and RASA-1 mutations. Mutations in the PTEN gene can cause two disorders that can predispose patients to cancer and can be associated with vascular anomalies. These disorders are Bannayan-Riley-Ruvalcaba and Cowden Syndrome. Usually these patients have enlarged heads and other signs of this syndrome. Vascular malformations can also occur in patients with PTEN mutations, with the most common malformation being high flow lesions such as arteriovenous malformations, that are usually intra-muscular with extensive amounts of fat.
Any patients with an unusual arteriovenous malformation or with signs of these syndromes should be evaluated by a genetics counsellor.
RASA1 mutations are associated with a rare condition called Parkes-Weber Syndrome. This is a Capillary Malformation – Arteriovenous Malformation (CM-AVM), which causes significant overgrowth usually of an extremity. There may also be a lymphatic component. There is no standard treatment for these lesions. Interventional radiologic procedures have been used.