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Congenital diaphragmatic hernias

Last updated: August 6, 2021

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A diaphragmatic hernia is the protrusion of intra-abdominal contents through an abnormal opening in the diaphragm. Congenital diaphragmatic hernias (CDH) are a common developmental defect, resulting from an incomplete fusion of embryonic components of the diaphragm. Left-sided postero-lateral diaphragmatic defects (Bochdalek hernias) are the most common, followed by anterior defects (Morgagni hernias). About 50% of babies with CDH have additional congenital malformations. CDH are often diagnosed prenatally on routine antenatal ultrasound. Neonates with CDH present postnatally with respiratory distress and a characteristic absence of breath sounds in the ipsilateral chest. The respiratory distress is due to severe pulmonary hypoplasia, persistent pulmonary hypertension of the newborn (PPHN), and poor surfactant production, all of which are typical characteristics of CDH. Postnatal diagnosis is confirmed on a chest x-ray which reveals abdominal contents in the thorax. Neonates with CDH should be medically stabilized (mechanical ventilation, inotropic support, gastric decompression) before surgical repair, which is then done within the first week of life. Also see our article “Acquired diaphragmatic hernias”.

Epidemiological data refers to the US, unless otherwise specified.

Because the liver protects the right hemidiaphragm, diaphragmatic hernias most commonly occur on the left side!

[3][4]

  • Antenatal ultrasound[5]: most cases are diagnosed on routine antenatal ultrasound[3]
    • Fluid-filled stomach/bowel seen in the thorax
    • Peristalsis may also be noted in the chest, confirming the diagnosis.
    • Esophageal compression can cause polyhydramnios
    • Hydrops fetalis may also be seen in severe cases
  • Chest x-ray
    • Abdominal contents, air/fluid-filled bowel, and poorly aerated lung in the ipsilateral hemithorax
    • Mediastinal shift to the right and compression of the contralateral lung
    • In doubtful cases, a naso-gastric tube is inserted and a chest radiograph is taken: the feeding tube will be seen in the thorax.
    • In right-sided CDH: the liver appears as an intrathoracic soft tissue mass + absence of the normal intra-abdominal liver shadow

Avoid pleurocentesis in a suspected diaphragmatic hernia because of the risk of bowel perforation, which is suggested by bile in the chest tube!

The differential diagnoses listed here are not exhaustive.

  • Bowel complications: obstruction, strangulation, incarceration, ileus, ulceration, perforation

We list the most important complications. The selection is not exhaustive.

  1. Leblanc C, Baron M, Desselas E, et al. Congenital pulmonary airway malformations: state-of-the-art review for pediatrician’s use. Eur J Pediatr. 2017; 176 (12): p.1559-1571. doi: 10.1007/s00431-017-3032-7 . | Open in Read by QxMD
  2. Diaphragm. http://www.innerbody.com/image/musc06.html. Updated: January 1, 2016. Accessed: December 9, 2016.
  3. Development of The Diaphragm - Review of MEDICAL EMBRYOLOGY Book. http://discovery.lifemapsc.com/library/review-of-medical-embryology/chapter-48-development-of-the-diaphragm. . Accessed: December 9, 2016.
  4. Congenital Diaphragmatic Hernia Overview.
  5. Loong TPF, Kocher HM. Clinical presentation and operative repair of hernia of Morgagni. Postgraduate Medical Journal. 2005; 81 : p.41-44. doi: 10.1136/pgmj.2004.022996 . | Open in Read by QxMD
  6. Hedrick HL, Scott Adzick S, Wilkins-Haug L, Barss VA. Congenital diaphragmatic hernia: Prenatal diagnosis and management. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/congenital-diaphragmatic-hernia-prenatal-diagnosis-and-management.Last updated: April 5, 2016. Accessed: December 12, 2016.