Congenital Diaphragmatic Hernia Clinical Presentation

Updated: Nov 19, 2021
  • Author: Daniel S Schwartz, MD, MBA, FACS; Chief Editor: Jeffrey C Milliken, MD  more...
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History and Physical Examination

Clinical manifestations of congenital diaphragmatic hernia (CDH) include the following:

  • Early diagnosis - Right-side heart; decreased breath sounds on the affected side; scaphoid abdomen; bowel sounds in the thorax, respiratory distress, and/or cyanosis on auscultation; CDH can often be diagnosed in utero with ultrasonography (US), magnetic resonance imaging (MRI), or both
  • Late diagnosis - Chest mass on chest radiography, gastric volvulus, splenic volvulus, or large-bowel obstruction
  • Congenital hernias (neonatal onset) - Respiratory distress and/or cyanosis occurs within the first 24 hours of life; CDH may not be diagnosed for several years if the defect is small enough that it does not cause significant pulmonary dysfunction
  • Congenital hernias (childhood or adult onset) - Obstructive symptoms from protrusion of the colon, chest pain, tightness or fullness the in chest, sepsis following strangulation or perforation, and many respiratory symptoms occur