Vascular and Lymphatic Malformations: Perspectives From Human and Vertebrate Studies

Circ Res. 2021 Jun 25;129(1):131-135. doi: 10.1161/CIRCRESAHA.121.319587. Epub 2021 Jun 24.

Abstract

Vascular malformations, affecting ≈1% to 1.5% of the population, comprise a spectrum of developmental patterning defects of capillaries, arteries, veins, and/or lymphatics. The majority of vascular malformations occur sporadically; however, inherited malformations exist as a part of complex congenital diseases. The malformations, ranging from birthmarks to life-threatening conditions, are present at birth, but may reveal signs and symptoms-including pain, bleeding, disfigurement, and functional defects of vital organs-in infancy, childhood, or adulthood. Vascular malformations often exhibit recurrent patterns at affected sites due to the lack of curative treatments. This review series provides a state-of-the-art assessment of vascular malformation research at basic, clinical, genetic, and translational levels.

Keywords: arteries; capillaries; cell proliferation; hemangiomas; vascular malformation.

Publication types

  • Introductory Journal Article
  • Research Support, N.I.H., Extramural

MeSH terms

  • Animals
  • Blood Vessels / abnormalities*
  • Blood Vessels / metabolism
  • Genetic Predisposition to Disease
  • Genetic Variation
  • Humans
  • Lymphatic Abnormalities* / genetics
  • Lymphatic Abnormalities* / metabolism
  • Lymphatic Abnormalities* / pathology
  • Lymphatic Abnormalities* / therapy
  • Lymphatic Vessels / abnormalities*
  • Lymphatic Vessels / metabolism
  • Phenotype
  • Risk Factors
  • Vascular Malformations* / genetics
  • Vascular Malformations* / metabolism
  • Vascular Malformations* / pathology
  • Vascular Malformations* / therapy