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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.

Background

This is a rare cause of thoracoabdominal mass—with poor prognosis. It is important for junior doctors to recognise the condition early for prompt care in the intensive care unit setting.

Case presentation

A male baby was born at term gestation by emergency caesarean section due to prolonged fetal bradycardia at our regional unit. He required positive pressure ventilation for 2 min initially. Apgar of 3 at 1 min, 7 at 2 min and 10 at 5 min were noted along with oxygen saturation of 83%. He subsequently required blow by oxygen intermittently due to cyanosis.

He is the first born to non-consanguineous parents, conceived by in vitro fertilisation. Dating scan at 14 weeks was reported as normal. No anomaly scan was done at 20 weeks as per hospital protocol.

At birth a large pulsating mass at the thoracoabdominal area was noted.

Oxygen saturation improved to 90% in room air 1 h after admission to special care baby unit.

Investigations

Initial blood gas showed metabolic acidosis. A bolus of normal saline was given.

Echocardiogram showed dextrocardia, double outlet right ventricle, subaortic ventricular septal defect and severe right ventricular outflow obstruction. Ultrasound also showed deficiency of the anterior diaphragm.

Cranial ultrasound showed incidental finding of right-sided choroid plexus cyst measuring 4 mm in diameter.

In view of lower thoracolumbar abdominal defect, ectopic placement of the umbilicus, deficiency of the diaphragmatic pericardium, deficiency of the anterior diaphragm and intracardiac abnormalities, a diagnosis of ectopia cordis—Pentalogy of Cantrell was made.

Differential diagnosis

The differential diagnoses of thoracoabdominal mass include amniotic band syndrome and body stalk anomaly.

Treatment

He was transferred to the cardiac unit of a tertiary referral hospital and stayed there for 1 week. He was observed in the cardiac ward, with no surgical intervention. Initially he required some supplemental oxygen.

Outcome and follow-up

He was sent home on propanolol (symptomatic benefit in outflow obstruction), with weekly oxygen saturation check. His oxygen saturation has ranged between 75% and 90%.

He is awaiting further surgical intervention pending the required weight gain.

Figure 1

Pulsating mass at the thoracoabdominal area.

Discussion

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.1 The estimated prevalence of ectopia cordis is 5.5–7.9 per million live births.2 ,3 Up to 80% of affected fetuses will have associated intracardiac defects, such as ventricular septal defect, tetralogy of Fallot, left ventricular diverticulum, double outlet right ventricle and pulmonary hypoplasia.4–8 It can be diagnosed from the 12th to 14th week of gestation.9 ,10 The heart was uncovered in 41%, covered with a serous membrane in 31%, and was covered with skin in 27% of reported cases.11 ,12

Failure of fusion of the lateral folds in the thoracic area during the sixth postmenstrual week results in ectopia cordis.13 There are four types: cervical (3%), thoracic (60%), thoracoabdominal (7%) and abdominal (30%).6 ,8 ,14 Thoracic and thoracoabdominal ectopia cordis account for about 85% of the cases.2 ,3 ,15 Most of the cases are sporadic and no familial tendency or recurrence has been demonstrated, but thoracoabdominal ectopia cordis has also been reported in twins.15 ,16 Prognosis depends on the severity of the intracardiac defects and associated anomalies. Mortality in children with ectopia cordis is high.7 ,17

Pentalogy of Cantrell is a rare and complex malformation caused by failure of cephalic body folding.4 A male preponderance (M:F = 2:1.2) is noted in the literature.12 ,18 Cantrell, Haller and Ravitch, described this syndrome in 1958.12 ,18 ,19 It consists of median supraumbilical abdominal defect, defect of the lower sternum, deficiency of the diaphragmatic pericardium, deficiency of the anterior diaphragm and intracardiac abnormality.4 Variants of Cantrell's pentalogy are classified as follows:12 ,19

  • Class 1: Exact diagnosis, with the five defects present.

  • Class2: Probable diagnosis, with four defects present (including intracardiac and abdominal wall defects).

  • Class 3: Incomplete diagnosis, with combination in the defects (always accompanied by sternal defects).

This malformation has been picked up as early as the 10th to 11th postmenstrual week. Associated abnormalities are craniofacial defects, trisomy 18, 13 and 21, and cystic hygroma.4 ,12 ,20 Ghidini et al12 ,21 described 10 cases of prenatally diagnosed Cantrell's pentalogy, with a uniform fatal outcome.12 ,21

The surgical correction of these defects is complex and it requires a staged closure, but a single-stage repair has been reported, with success.2 ,15 ,22 ,23 The staged repair includes:

  • (1) Covering the heart

  • (2) Correction of the intrinsic cardiac defects prior to the orthotopic location of the heart

  • (3) Placement of the heart into the thoracic cavity and sternal/thoracic reconstruction

The benefits of the staged repair are: minimisation of the compression of the heart and the great vessels, to allow the thoracic cavity to expand gradually.

Learning points

  • Consider ectopia cordis as a cause of pulsating thoracoabdominal mass.

  • Ectopia cordis is associated with Pentalogy of Cantrell.

  • Ectopia cordis has a poor prognosis and urgent medical attention is always required.

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

References

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