CM-AVM syndrome in a neonate: case report and treatment with a novel flow reduction strategy. uri icon

Overview

abstract

  • Mutations in the RASA-1 gene underlie several related disorders of vasculogenesis. Capillary malformation-arteriovenous malformation (CM-AVM) is one such entity and was recently encountered in a neonate who demonstrated its clinical and radiologic features. A single mutation in the RASA-1 gene was detected.A novel flow reduction strategy was employed to a large AVM affecting the patient's upper limb. The imaging findings, surgical procedure and patient's improved post-operative state are described.

authors

  • Behr, Gerald
  • Liberman, Leonardo
  • Compton, Jocelyn
  • Garzon, Maria C
  • Morel, Kimberly D
  • Lauren, Christine T
  • Starc, Thomas J
  • Kovacs, Stephen J
  • Beltroni, Vincent
  • Landres, Rachel
  • Anyane-Yeboa, Kwame
  • Meyers, Philip M
  • Bacha, Emile
  • Kandel, Jessica J

publication date

  • November 20, 2012

Identity

PubMed Central ID

  • PMC3517480

Scopus Document Identifier

  • 84856540111

Digital Object Identifier (DOI)

  • 10.1172/JCI46116

PubMed ID

  • 23164092

Additional Document Info

volume

  • 4

issue

  • 1