A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation

Pediatr Dermatol. 2021 Sep;38(5):1305-1307. doi: 10.1111/pde.14723. Epub 2021 Aug 2.

Abstract

Capillary malformation-arteriovenous malformation (CM-AVM) is a rare condition characterized by multiple cutaneous capillary malformations with potential associated arteriovenous malformations. RAS p21 protein activator 1 (RASA1) and ephrin type-B receptor 4 (EPHB4) genes are implicated. We present a child with CM-AVM, due to EPHB4 mutation, and Ebstein's anomaly. Although EPHB4 is a known effector of vascular remodeling, its contribution to cardiogenesis is still being explored. Further research is needed to determine causality of Ebstein's anomaly in the setting of CM-AVM due to EPHB4 mutation.

Keywords: Ebstein's anomaly; arteriovenous malformation; capillary malformations; genetic mutations.

Publication types

  • Case Reports

MeSH terms

  • Arteriovenous Malformations* / genetics
  • Capillaries / abnormalities
  • Child
  • Ebstein Anomaly* / genetics
  • Humans
  • Mutation
  • Port-Wine Stain
  • p120 GTPase Activating Protein / genetics

Substances

  • RASA1 protein, human
  • p120 GTPase Activating Protein

Supplementary concepts

  • Capillary Malformation-Arteriovenous Malformation