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

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

doi:10.1186/2045-824X-4-19

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

Vasc Cell. 2012 Nov 20;4(1):19. doi: 10.1186/2045-824X-4-19.

Authors

Affiliations

¹ Department of Radiology, Division of Pediatric Radiology Columbia University, New York, NY, USA.
² Department of Pediatrics, Division of Cardiology Columbia University, New York, NY, USA.
³ Columbia College of Physicians & Surgeons, New York, NY, USA.
⁴ Department of Dermatology and Pediatrics, Columbia University, New York, NY, USA.
⁵ Division of Neonatology, Vassar Brothers Medical Center, Poughkeepsie, NY, USA.
⁶ Department of Pediatrics, Division of Clinical Genetics, Columbia University, New York, NY, USA.
⁷ Department of Radiology, Division of Interventional Neuroradiology, Columbia University, New York, NY, USA.
⁸ Department of Surgery, Division of Cardiothoracic Surgery, Columbia University, New York, NY, USA.
⁹ Department of Surgery, Division of Pediatric Surgery, Columbia University, New York, NY, USA.

^# Contributed equally.

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.

Publication types

Case Reports