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

Journal of Angiogenesis Research

Jessica J Kandel⁹  Emile Bacha²  Philip M Meyers⁷  Kwame Anyane-Yeboa¹  Rachel Landres⁸  Vincent Beltroni⁸  Stephen J Kovacs⁸  Thomas J Starc³  Christine T Lauren⁴  Kimberly D Morel⁴  Maria C Garzon⁴  Jocelyn Compton⁵  Leonardo Liberman³  Gerald G Behr⁶ 

[1] Department of Pediatrics, Division of Clinical Genetics, Columbia University, New York, NY, USA;Department of Surgery, Division of Cardiothoracic Surgery, Columbia University, New York, NY, USA;Department of Pediatrics, Division of Cardiology Columbia University, New York, NY, USA;Department of Dermatology and Pediatrics, Columbia University, New York, NY, USA;Columbia College of Physicians & Surgeons, New York, NY, USA;Department of Radiology, Division of Pediatric Radiology Columbia University, New York, NY, USA;Department of Radiology, Division of Interventional Neuroradiology, Columbia University, New York, NY, USA;Division of Neonatology, Vassar Brothers Medical Center, Poughkeepsie, NY, USA;Department of Surgery, Division of Pediatric Surgery, Columbia University, New York, NY, USA

关键词: Vascular malformation;    Port wine stain;    Parkes-Weber;    RASA 1;    CM-AVM;   

Others  :  801848
DOI  :  10.1186/2045-824X-4-19

 received in 2012-10-30, accepted in 2012-11-08,  发布年份 2012

【 摘 要 】

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.

【 授权许可】

   
2012 Behr et al.; licensee BioMed Central Ltd.

【 图 表 】

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