Venous Anomalies in Overgrowth Syndromes

Tech Vasc Interv Radiol. 2024 Jun;27(2):100962. doi: 10.1016/j.tvir.2024.100962. Epub 2024 Jun 14.

Abstract

Overgrowth syndromes, particularly within the PIK3CA-related overgrowth syndrome (PROS) spectrum, are commonly associated with venous anomalies. The anomalies include spongiform venous malformations and persistent embryonic veins, such as the lateral marginal vein (of Servelle). The anomalous veins pose a significant risk of thromboembolic disease and should be occluded, preferably earlier in life. A thorough understanding of the conditions, anatomy, and interdisciplinary treatment of these complex anomalies is essential for optimal management. This review explores the clinical and imaging diagnosis of overgrowth syndromes and techniques for assessing and treating associated venous anomalies, particularly the endovenous closure of anomalous veins.

Keywords: PROS; embolization; ethanol; sclerotherapy; sodium tetradecyl sulfate; vascular malformations.

Publication types

  • Review

MeSH terms

  • Class I Phosphatidylinositol 3-Kinases* / genetics
  • Endovascular Procedures
  • Genetic Predisposition to Disease
  • Humans
  • Mutation
  • Phenotype
  • Phlebography
  • Predictive Value of Tests
  • Syndrome
  • Treatment Outcome
  • Vascular Malformations* / diagnostic imaging
  • Vascular Malformations* / therapy
  • Veins* / abnormalities
  • Veins* / diagnostic imaging
  • Veins* / surgery

Substances

  • PIK3CA protein, human
  • Class I Phosphatidylinositol 3-Kinases