A 39-week gestation infant was born to a 20-year-old primigravida whose pregnancy was complicated by pre-gestational diabetes mellitus and late prenatal care starting at 31 weeks, when the fetus was diagnosed with PC. Prenatal ultrasound showed a large omphalocele with herniation of liver, anterior diaphragmatic hernia, absence of lower sternum, ectopia cordis, and a ventricular septal defect (VSD). Maternal laboratory tests were all normal and amniocentesis revealed 46 XX on karyotype. She was on prenatal vitamins, insulin, and metformin, which was discontinued at the time of conception. The mother had no history of teratogen exposure, smoking, alcohol or illicit drugs. Apart from a maternal aunt with Holt-Oram syndrome there was no other relevant family history. There was no history of consanguinity and the father was 22 years old. The infant was born via vaginal delivery with APGAR of five and eight at one and five minutes and required mechanical ventilation for respiratory distress. The infant’s birth weight was 2790 g (25th percentile), length was 46 cm (25th percentile), head circumference was 33.5 cm (50th to 75th percentile). Examination revealed a term infant with a small abdomen and thorax with the internal organs herniated into a large omphalocele with bowel and liver visible through the sac, a pulsatile ectopia cordis with visible pericardium and heart outside the thorax. Chest radiographs showed absent middle and lower sternum, and bowel in the anterior part of the chest (Figure 1
and Figure 2
). Echocardiography showed an anomalous right coronary artery from the left sinus, large peri-membranous VSD, partially closed with tricuspid septal leaflet tissue, patent ductus arteriosus (PDA), and mild sub-valvular pulmonic stenosis. In addition, systemic right ventricular pressure, as measured by the tricuspid regurgitation jet, suggested pulmonary arterial hypertension. She was weaned off mechanical ventilation and enteral feeds were started at three days, but she had intolerance with emesis and was again attempted after a few days. Investigations carried out to determine the extent of the prenatal findings determined it to be consistent with Pentalogy of Cantrell, including sternal cleft, anterior diaphragmatic hernia, ectopic cordis, ventricular septal defect, and a large omphalocele. Her microarray was normal. After ten days she had an operative procedure, where an attempt to separate her bowel from her heart was made. The large omphalocele was enclosed with a Gore-Tex synthetic patch (W. L. Gore Inc., Flagstaff, AZ, USA) along with closure of the sternal defect, mediastinal defects, and anterior abdominal wall defects. She had broad-spectrum antibiotics peri-operatively and she remained on mechanical ventilation after the operative procedure. A few days later she developed infectious complications around the Gore-Tex patch and the wound culture grew Stenotrophomonas
and methicillin-sensitive Staphylococcus aureus
. She needed escalation of her respiratory support and was hemodynamically very unstable needing to be resuscitated twice for severe decompensation. At 19 days, the parents elected to withdraw critical care support with demise soon afterwards.
Autopsy revealed that the organs of the thorax and abdomen were not in their normal anatomic relationships with the heart protruding beneath the rib cage and sternum, with the liver and intestines protruding from the abdominal cavity, but the large abdominal and thoracic wall defect were covered by surgical Gore-Tex. The underlying liver and abdominal organs were severely adhered with abscesses below and above the liver with culture confirming the growth of Staphylococcus aureus, Stenotrophomonas (Xanthomonas) maltophilia, and Enterococcus fecalis. An acute organizing pericarditis and serous fluid in both pleural cavities were identified. The heart was grossly elongated. There were large atrial and ventricular septal defects, and a large patent ductus arteriosus was identified. The liver showed centrilobular congestion along with extra-medullary hematopoiesis and multiple abscesses. The findings of PC after Gore-Tex closure of sternal and abdominal wall defect, ectopia cordis and omphalocele along with absence of distal sternum, anterior diaphragm, and diaphragmatic pericardium were confirmed.