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A novel RASA1 mutation causing capillary malformation–arteriovenous malformation (CM–AVM) presenting during pregnancy


  • Conflict of interest: none.

Correspondence to:

Professor Edwin R. Chilvers, PhD, FRCP, FMedSci, Department of Medicine, University of Cambridge School of Clinical Medicine, Box 157 Addenbrooke's Hospital, Hills Road, Cambridge CB2 0QQ, UK.



Capillary malformation–arteriovenous malformation (CM–AVM) is a newly recognized clinical entity caused by mutation of the RASA1 gene, which encodes p120-RasGAP. Here we describe, for the first time, a patient with CM–AVM presenting during the late stages of pregnancy with pulmonary “capillary level” microvascular shunt, worsening cutaneous capillary malformations, and gross fluid overload. Sequencing revealed a novel mutation of the RASA1 gene involving a frameshift mutation in the RASGAP domain of RASA1. This report extends our current genetic and clinical understanding of CM–AVM. © 2013 Wiley Periodicals, Inc.