Purpose or Case Report: To characterize the range of cardiac and extracardiac CT findings in children with thoracic ectopia cordis in the setting of Cantrell syndrome.

Methods & Materials: Six patients with ectopia cordis who underwent CT angiography during a 6-year period were retrospectively analyzed.

Results: All six patients revealed multiple thoraco-abdominal midline abnormalities associated, which suggested the diagnosis of Cantrell syndrome. Three patients were categorized as a definitive diagnosis with all five Cantrell syndrome criteria present (intracardiac defect, sternal cleft, pericardial defect, diaphragmatic defect, and omphalocele), while the remainder three, showed varying degrees of the Cantrell Pentalogy. All patients showed a complete sternal defect, reported previously as an unusual finding in Cantrell Syndrome. Unlike to the findings reported on previous studies, we found that 5 of our patients showed atrial septal defect and parallel appearance of the great arteries. Finally, 5 of our patients showed anatomic variants not previously reported in the literature, such as elongated atrial appendages and a single connection of pulmonary veins in the same axial plane. 4 patients died in the first weeks of life, all of them from complex associated cardiac defects
Conclusions: Pentalogy of Cantrell is a very rare syndrome encompassing varying degrees of midline defects and congenital cardiac anomalies that can be associated with ectopia cordis. Our six patients diagnosed with ectopia cordis had varying degrees of the Cantrell pentalogy and presented anatomic variants which are generally not reported in literature.