Extracranial arteriovenous malformations: from bedside to bench

Mutagenesis. 2019 Dec 19;34(4):299-306. doi: 10.1093/mutage/gez028.

Abstract

Arteriovenous malformation (AVM) is defined as a fast-flow vascular anomaly that shunts blood from arteries directly to veins. This short circuit of blood flow contributes to progressive expansion of draining veins, resulting in ischaemia, tissue deformation and in some severe cases, congestive heart failure. Various medical interventions have been employed to treat AVM, however, management of which remains a huge challenge because of its high recurrence rate and lethal complications. Thus, understanding the underlying mechanisms of AVM development and progression will help direct discovery and a potential cure. Here, we summarize current findings in the field of extracranial AVMs with the aim to provide insight into their aetiology and molecular influences, in the hope to pave the way for future treatment.

Publication types

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

MeSH terms

  • Animals
  • Arteriovenous Malformations / diagnosis*
  • Arteriovenous Malformations / genetics*
  • Arteriovenous Malformations / metabolism
  • Biomarkers
  • Diagnosis, Differential
  • Disease Management
  • Disease Susceptibility
  • Embryonic Development / genetics
  • Genetic Association Studies
  • Genetic Loci
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Phenotype
  • Signal Transduction
  • Syndrome
  • Translational Research, Biomedical

Substances

  • Biomarkers