Central nervous system screening in capillary malformation-arteriovenous malformation syndrome: An observational study

Abstract

To the Editor: Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder characterized by small, multifocal capillary malformations (CMs), sometimes skin telangiectasias, and increased risk of fast-flow vascular malformations, mostly arteriovenous malformations (AVMs) located in the central nervous system (CNS) and soft tissues.1,2 Pathogenic variants of RASA1 (CM-AVM type 1 [CM-AVM1]) and EPHB4 [CM-AVM2] are identified in about 50% and 25% of patients, respectively.