B. Kaul1,2, S. Cruz1, F. Sheikh1,2, I. J. Zamora1,2, A. Mehollin-Ray2,3, C. I. Cassady2,3, T. C. Lee1,2, D. L. Cass1,2, O. O. Olutoye1,2 1Baylor College Of Medicine,Michael E. DeBakey Department Of Surgery,Houston, TX, USA 2Texas Chlidren’s Fetal Center,Houston, TX, USA 3Baylor College Of Medicine,Department Of Radiology,Houston, TX, USA
Introduction: The Pentalogy of Cantrell is a rare congenital syndrome characterized by intracardiac anomalies and defects of the abdominal wall, lower sternum, anterior diaphragm and pericardium. A varied number of the components of the Pentalogy of Cantrell may manifest as a result of varying degrees of perturbation in early embryogenesis. The purpose of this study was to evaluate our experience with this rare disease and the various embryological variants.
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. All patients referred to the fetal center underwent comprehensive ultrasounds, magnetic resonance imaging (MRI) and/or echocardiography. Data collected from patient charts fetal and postnatal imaging findings, operative treatment, pathologic evaluation and outcomes.
Results:
There were ten patients who presented with embryological variants of Pentalogy of Cantrell over a six-year period. Two cases displayed the full range of embryological defects observed and eight cases exhibited variants of the classic pentalogy (Table 1). The most common embryologic defects observed were cardiac anomalies, omphalocele and congenital diaphragmatic hernia which were present in the majority of patients. Sternal and pericardial defects were each present in 40% of patients. Additional anomalies present included pulmonary hypoplasia, pulmonary artery stenosis and chromosomal abnormalities. In the Pentalogy of Cantrell, diaphragmatic and pericardial defects often occur together; however, we observed four patients with diaphragmatic defects but no defect in the pericardium and one patient with a defective pericardium but no associated diaphragmatic defect, suggesting highly specific losses of somatic mesoderm during embryological development. One patient was lost to follow up and a second patient underwent termination of pregnancy. Five out of the remaining eight patients survived, one of which who 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 sequalae.
Conclusion: This contemporary series demonstrates that a fetus with Pentalogy of Cantrell can survive but at the expense of significant morbidity. Those with partial components of the Pentalogy have a more normal course and excellent outcome. This report highlights the very specific embryological losses that occur during early fetal development and give rise to the spectrum of anomalies observed in the Pentalogy of Cantrell.
