Combined Congenital Defects of the Anterior Abdominal Wall, Sternum, Diaphragm, Pericardium, and Heart: A Case Report and Review of the Syndrome

We present a case of thoraco-abdominal ectopia cordis with a rare pentad of congenital defects involving the sternum, diaphragm, pericardium, heart, and anterior abdominal wall. The patient was born with all five defects plus herniation of small bowel into the chest. Resuscitation was followed by surgical reduction of the hernia, dosure of a diaphragmatic-pericardial defect, and conservative treatment of the omphalocele. In the seventh week, iatrogenic rupture of the eschar covering the omphalocele required skin closure over the evisceration. Acute cardiac failure after skin closure was dramatically relieved by use of an inclined infant seat in the incubator. The child developed well initially, but progressive dyspnea and cyanosis prompted cardiac catheterization and angiography when she was 19 months old. A Blalock shunt was constructed, but the child died four days later at which time autopsy revealed a multitude of intracardiac and extracardiac defects. Sixty cases from the literature and the case reported here are classified into 36 cases of the full syndrome, 17 suspected cases, and 8 confirmed cases of incomplete expression. The syndrome, its variations, and their relationship to other forms of ectopia cordis are delineated in the review.