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The genetics of vascular anomalies

Frigerio, Alicea; Stevenson, David A.b; Grimmer, J. Fredrikc

Current Opinion in Otolaryngology & Head and Neck Surgery: December 2012 - Volume 20 - Issue 6 - p 527–532
doi: 10.1097/MOO.0b013e3283587415

Purpose of review To summarize clinically relevant findings in the genetic cause and gene expression of vascular anomalies.

Recent findings Infantile hemangioma demonstrates familial clustering and is associated with atopic disease. Variable gene expression is seen in infantile hemangioma during proliferation and involution. Capillary malformation may be sporadic or inherited in an autosomal dominant pattern. Capillary malformation–arteriovenous malformation is caused by mutation in RASA1. Some inherited forms of lymphedema are due to mutation in VEGFR3. Venous malformation may be sporadic, paradominant, or autosomal dominant inheritance. Autosomal dominantly inherited forms of venous malformation are due to mutations in TIE2/TEK. Additionally, TIE2 somatic mutations have been identified in about half of sporadic venous malformations.

Summary Multiple genes have been identified causing inherited forms of vascular anomalies including capillary malformations, venous malformations and lymphedema. Variable gene expression of infantile hemangioma during proliferation and involution may offer new therapeutic targets for treatment.

aDepartment of Human Physiology, University of Milan, Milan, Italy

bDivision of Medical Genetics, Department of Pediatrics

cDivision of Otolaryngology, University of Utah, Salt Lake City, Utah, USA

Correspondence to J. Fredrik Grimmer, MD, Associate Professor of Surgery, Division of Otolaryngology, University of Utah, USA. Tel: +1 801 662 5671; e-mail:

© 2012 Lippincott Williams & Wilkins, Inc.