Abstract W MP119: Features of Capillary Malformation-Arteriovenous Malformation Syndrome Associated Cerebral Vascular Anomalies

Abstract

Background: Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene. The hallmark is cutaneous capillary malformations. High flow AVMs occur in about 1/3 of patients, with cerebral malformations in about 10%. We evaluate the clinical and radiographic features of cerebral malformations in CM-AVM patients. Methods: Since 2006, pediatric patients presenting to our center with head and neck high flow vascular malformations have been screened for capillary malformations. Our database of pediatric head and neck vascular malformations was reviewed for patients with capillary malformations. Patients with only facial arteriovenous malformations were excluded. Clinical and radiographic features were reviewed. Results: 9 patients were found to have high flow head and neck malformations and CM. 1 patient with an ear AVM was excluded. Of the remaining, 4 patients had confirmed positive genetic mutation in the RASA1 gene. All four of these patients had complex pial arteriovenous fistulas - One was supratentorial and three were in the posterior fossa. One premature infant with a complex posterior fossa lesion and heart failure died shortly after birth. One infant with mild heart failure is on medication and awaiting treatment. The other two were asymptomatic and treated with embolization. These patients are neurologically intact and reaching developmental milestone. 3/4 patients had first degree relative with CM with or without AVM. One patient with vein of Galen malformation and CM has tested negative for RASA1 mutation. The other three patients have not yet been tested. Of these, two have pial arteriovenous fistula which have been treated. One 2 year old had a multifocal dural arteriovenous fistula. Conclusion: Cerebral vascular anomalies in CM-AVM syndrome are often complex lesions. Thus far, all confirmed RASA1 mutation patients at our center have pial arteriovenous fistulas. Vein of Galen malformation and dural AVM may also be associated. Pediatric patients with these diagnoses should be screened for CM. The diagnosis of CM-AVM with RASA1 mutation plays a role in family planning and screening of other family members.