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BMJ Case Reports 2012; doi:10.1136/bcr-2012-007029
  • Rare disease

A ‘One in a million’ case of pulsating thoracoabdominal mass

  1. Farhana Sharif1
  1. 1Paediatric Department, Midland Regional Hospital, Mullingar, Ireland
  2. 2Paediatric Department, Cavan General Hospital, Cavan, County Cavan, Ireland
  1. Correspondence to Dr Lay Ong Tan, philiptan83{at}gmail.com

Summary

Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. The authors present a case of a male baby born at term by emergency caesarean section due to prolonged fetal bradycardia, who was noted to have a large pulsating mass in the thoracoabdominal area. In view of lower thoracolumbar abdominal defect, ectopic placement of the umbilicus, deficiency of the diaphragmatic pericardium, deficiency of anterior diaphragm and intracardiac abnormalities, a diagnosis of ectopia cordis—Pentalogy of Cantrell was made. He was transferred to a tertiary centre and required oxygen supplement initially. He was sent home after 1 week, on propanolol, with weekly oxygen saturation checks. He is awaiting further surgical intervention pending the required weight gain.

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