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Embryology and anatomy of congenital diaphragmatic hernia

Nolan De Leon1, Wai Hei Tse1, Dustin Ameis1

  • 1Departments of Surgery, Division of Pediatric Surgery, Pediatrics & Child Health and Physiology and Pathophysiology, University of Manitoba and Biology of Breathing Theme, Children's Hospital Research Institute of Manitoba, Winnipeg, Manitoba, Canada.

Seminars in Pediatric Surgery
|November 29, 2022
PubMed

Insights

Congenital diaphragmatic hernia (CDH) involves complex genetic and environmental factors affecting fetal development. Further research is needed to understand its origins and improve preventative care for affected infants.

Area of Science:

  • Developmental biology
  • Genetics
  • Pediatric surgery

Background:

  • Congenital diaphragmatic hernia (CDH) presents significant morbidity and mortality due to pulmonary hypoplasia and hypertension.
  • While treatments improve, the underlying causes of CDH, often idiopathic, remain poorly understood.
  • CDH is hypothesized to result from polygenic defects interacting with environmental and epigenetic factors.

Purpose of the Study:

  • To review recent literature on disrupted embryological lung and diaphragmatic development in CDH.
  • To highlight the need for further research into CDH pathogenesis and preventative strategies.

Main Methods:

  • Literature review of studies on congenital diaphragmatic hernia.
  • Analysis of research on embryological lung and diaphragmatic development.
  • Examination of genetic, environmental, and epigenetic factors implicated in CDH.

Main Results:

  • Existing animal models have identified candidate genes and signaling pathways.
  • Gaps remain in understanding the precise origins and pathogenesis of CDH.
  • The links between lung development disruption and failed diaphragm closure are not fully clear.

Conclusions:

  • Improved understanding of embryological development is crucial for advancing CDH care.
  • Further research is essential to develop effective preventative measures for CDH.
  • Investigating gene-environment interactions is key to unraveling CDH etiology.

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