Capillary malformation-arteriovenous malformation (CM-AVM) is an autosomal dominant disorder with variable phenotype caused by heterozygous inactivating mutations in the RASA1 gene located on chromosome 5. Clinical manifestations are variable with cutaneous multifocal capillary malformation associated with fast-flow lesions. Most of them are located in soft tissues (intramuscular, intraosseous, spinal or cerebral). Many authors reported the clinical spectrum or the genetic association but few data are available on the imaging characteristics or criteria to establish the diagnosis of AVM. The goal of this poster is to review the imaging characteristics in the RASA1 series of our institution and in particular to evaluate the distribution of patients having true AVMs versus capillary hypervascularity. Read More

Meeting name: SPR 2019 Annual Meeting & Postgraduate Course , 2019

Authors: Thomas-chausse Frederic, Proisy Maïa, Mccuaig Catherine, Rypens Francoise, Lapierre Chantale, Dubois Josée

Keywords: RASA1, Magnetic Resonance, Angiography