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Updated: Dec 25 2021

Congenital Diaphragmatic Hernia

  • Snapshot
    • A newborn infant girl is evaluated 2 hours after birth for signs of trouble breathing. The patient was born via an uncomplicated vaginal delivery at 39 weeks of gestation to a 32-year-old mother. The girl's APGAR scores were 9 at 1 minute of life and 10 at 5 minutes after delivery, with a score of 2 for respiration with a vigorous cry at both time points. Her temperature is 96.9°F (36.1°C), pulse is 168/min, and respirations are 58/min. On physical examination, the patient's point of maximal impulse is markedly displaced to the right and lung sounds are absent on the left side. A chest radiograph is obtained and shown in the image.
  • Introduction
    • Overview
      • a congenital diaphragmatic hernia occurs due to congenital defects in the diaphragm, causing bowel to protrude through the diaphragm into the thorax
  • Epidemiology
    • Incidence
      • 1 in 3000 newborns
    • Demographics
      • 90% of patients present in the neonatal period or within 1 year of age
    • Location
      • commonly presents on the left posterolateral side
    • Pathophysiology
      • muscular entities and pleuroperitoneal membrane of the diaphragm fail to develop normally
        • diaphragm develops between 4-12 weeks of gestation
          • Bochdalek hernia
            • failure of pleuroperitoneal membrane closure in utero causes a defect in the posterior attachment of the diaphragm
          • Morgagni hernia
            • failure of formation of the anteromedial portion of the diaphragm, where the septum transversum and the anterior-inferior thoracic wall intersect
        • results in displacement of bowel into the thorax
  • Presentation
    • Symptoms
      • dyspnea and/or respiratory distress
      • cyanosis
        • occurs within the first 24 hours of life if neonatal onset
      • chest tightness or fullness
    • Physical exam
      • ↓ breath sounds on the affected side
      • bowel sounds in the thorax
      • displaced point of maximal impulse
      • cyanosis
      • scaphoid abdomen
        • due to herniation of abdominal contents into thorax
  • Imaging
    • Chest radiograph
      • findings
        • bowel and stomach are present in the chest cavity
        • shifting of the mediastinum to one side
  • Treatment
    • Medical
      • resuscitation with ventilatory support
        • indications
          • respiratory distress
        • modalities
          • conventional mechanical ventilation
          • high-frequency oscillatory ventilation (HFOV)
      • ECMO (extracorporeal membrane oxygenation)
        • indications
          • reserved for patients who fail to improve with both conventional mechanical ventilation and HFOV
      • nasogastric tube for decompression
    • Surgical
      • surgical repair of the hernia
        • definitive treatment
  • Complications
    • Small bowel obstruction
      • risk factors
        • late-presenting congenital diaphragmatic hernia in neonates
        • left-sided hernia associated with ↑ bowel complications (liver protects from herniation on the right side)
        • adhesions from surgical repair of hernia
      • treatment
        • surgery for small bowel obstruction repair
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