Molecular genetics of vascular malformations

Matrix Biol. 2001 Sep;20(5-6):327-35. doi: 10.1016/s0945-053x(01)00150-0.


Vascular malformations are localized errors of angiogenic development. Most are cutaneous and are called vascular 'birthmarks'. These anomalies are usually obvious in the newborn, grow commensurately with the child, and gradually expand in adulthood (Mulliken and Glowacki, 1982). Vascular malformations also occur in visceral organs, such as the respiratory and gastrointestinal tract, but are more common in the brain (Mulliken and Young, 1988). These anomalies are composed of tortuous vascular channels of varying size and shape, lined by a continuous endothelium and surrounded by abnormal complement of mural cells. Vascular malformation can be life threatening due to obstruction, bleeding or congestive heart failure. Most anomalies occur sporadically, but there are families exhibiting autosomal dominant inheritance. Genetic studies of such families have resulted in the identification of mutated genes, directly giving proof of their important role in the regulation of angiogenesis.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Arteriovenous Malformations / genetics*
  • Capillaries / abnormalities*
  • Central Nervous System Vascular Malformations / genetics*
  • Chromosome Aberrations*
  • Glomus Tumor / genetics
  • Humans
  • Lymphedema / genetics*
  • Mutation / genetics*
  • Skin / blood supply*
  • Veins / abnormalities*