Truncus arteriosus as presentation of PHACE syndrome

BMJ Case Rep. 2021 Sep 13;14(9):e244620. doi: 10.1136/bcr-2021-244620.

Abstract

PHACE syndrome is a rare neurocutaneous syndrome that describes the association of large segmental infantile haemangioma involving the head and neck, along with other systemic anomalies. Complex congenital heart disease has rarely been reported in this syndrome. We present a report of a patient with PHACE syndrome and truncus arteriosus.

Keywords: cardiothoracic surgery; congenital disorders; dermatology; haemangioma; skin.

Publication types

  • Case Reports

MeSH terms

  • Aortic Coarctation* / diagnosis
  • Aortic Coarctation* / diagnostic imaging
  • Eye Abnormalities* / diagnosis
  • Humans
  • Infant
  • Neurocutaneous Syndromes* / diagnosis
  • Truncus Arteriosus

Supplementary concepts

  • PHACE association