CONGENITAL DIAPHRAGMATIC-HERNIA - DOES THE SIDE OF THE DEFECT INFLUENCE THE INCIDENCE OF ASSOCIATED MALFORMATIONS

Background/Purpose: Patients with congenital diaphragmatic hernia (CDH ) frequently have associated anomalies, Experiments in the nitrofen CD H model have shown differential embryonic cell death patterns in roden ts suggesting unique mechanisms in the formation of right-sided (RCDH) or left-sided (LCDH) diaphragmatic hernia. These findings provide ins ight into the pathogenesis of CDH and may aid our understanding on the spectrum of associated anomalies commonly observed in humans, This st udy therefore set out to test the hypothesis that the side of the diap hragmatic defect in humans is related to the incidence and severity of coexistent organ malformations. Methods: The medical and autopsy reco rds of 301 CDH patients presenting to two institutions over a 23-year period were examined to analyze these factors. Results: One hundred pa tients (33%) were found to have one or more associated anomalies. The incidence of multiple-RCDH (10%) versus LCDH (7.3%) and cardiac anomal ies-RCDH (10%) versus LCDH (8.5%) was similar in both groups of patien ts, However, the hypoplastic heart syndrome was a unique feature in 5 of 22 patients (23%) with LCDH who had cardiac abnormalities. This car diac anomaly may be related developmentally to LCDH. Conclusion: The c ellular mechanisms underlying the genesis of th is spectrum of abnorma lities in humans and the nitrofen CDH model warrant further study to e lucidate factors governing embryonic cell fate and phenotype expressio n. Copyright (C) 1998 by W.B. Saunders Company.