Saturday, August 25, 2012

The genetics of vascular anomalies.

The genetics of vascular anomalies. 

August 21, 2012


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.



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


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.


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.