5, 4, 3, 2, 1: embryologic variants of pentalogy of Cantrell

Abstract

Background: The purpose of this study was to evaluate our experience with pentalogy of Cantrell and the various embryologic variants.

Materials and methods: Patient charts and diagnostic imaging studies of all fetuses evaluated at Texas Children's Fetal Center for pentalogy of Cantrell between April 2004 and June 2014 were reviewed retrospectively. Data collected from patient charts included demographic information, clinical presentation, fetal and postnatal imaging findings, operative treatment, pathologic evaluation, and outcomes.

Results: There were 10 patients who presented with embryologic variants of pentalogy of Cantrell over a 6-y period. Two cases displayed the full range of embryologic defects observed, and eight cases exhibited variants of the classic pentalogy. Sternal and pericardial defects were each present in 40% of patients. Additional anomalies present included pulmonary hypoplasia, pulmonary artery stenosis, and chromosomal abnormalities. Four patients presented with diaphragmatic defects but no defect in the pericardium, and one patient presented with a defective pericardium but no associated diaphragmatic defect, suggesting highly specific losses of somatic mesoderm during embryologic development. One patient was lost to follow-up, and a second patient underwent termination of pregnancy. Five of the remaining eight patients survived, one of which had the full range of embryologic defects and now attends preschool but requires speech and occupational therapy. The remaining surviving patients have developed without serious sequelae.

Conclusions: This report highlights the spectrum of anomalies observed in the pentalogy of Cantrell and demonstrates that these fetuses can survive but with substantial morbidity.

Keywords: Bifid sternum; Congenital anomalies; Congenital diaphragmatic hernia; Pentalogy of Cantrell.