Congenital Diaphragmatic Hernia

On this page

Introduction & Embryology - Hernia Genesis

  • CDH: Protrusion of abdominal viscera into thoracic cavity due to a congenital diaphragmatic defect.
  • Embryology: Diaphragm develops from four main embryonic structures:
    • Septum transversum (forms central tendon)
    • Pleuroperitoneal membranes (fuse to close pleuroperitoneal canals)
    • Dorsal mesentery of esophagus (forms crura)
    • Muscular ingrowth from lateral body walls.
  • Hernia Genesis: Primarily due to failure of fusion of the pleuroperitoneal membranes, usually posterolaterally.
  • Critical Window: This developmental failure occurs around 8-10 weeks of gestation.

⭐ Failure of pleuroperitoneal membrane closure, most commonly posterolaterally, around 8-10 weeks gestation leads to CDH. CDH development and anomalies

Types & Associated Anomalies - Defect Varieties

  • Bochdalek Hernia (Posterolateral): 📌 BPM LLL (Bochdalek Postero-lateral, More common, Left, Lung hypoplasia)
    • Most common type (~85-90%).
    • Predominantly left-sided (~85% of Bochdalek cases).
    • Leads to pulmonary hypoplasia.
  • Morgagni Hernia (Anteromedial/Retrosternal):
    • Less common (~2-5%).
    • Usually right-sided.
  • Eventration of Diaphragm:
    • Abnormal elevation; intact but thinned diaphragm.
  • Associated Anomalies (~30-50% cases):
    • Cardiac (e.g., VSD, ASD).
    • CNS (e.g., neural tube defects).
    • Renal, Skeletal.
    • Chromosomal (e.g., Trisomy 13, 18, 21).

⭐ Bochdalek hernia (posterolateral) is the most common type (~85-90%), predominantly on the left (~85% of Bochdalek cases).

CDH: Normal vs. Abnormal Development & Bochdalek Hernia

Pathophysiology & Clinical Features - Breathing Battle

  • Pathophysiology:
    • Abdominal viscera herniate into thorax → lung compression.
    • Leads to:
      • Pulmonary hypoplasia: ↓ alveoli, bronchioles, vasculature (often bilateral).
      • Persistent Pulmonary Hypertension (PPHN): ↑ pulmonary vascular resistance.
    • Surfactant deficiency common.
  • Clinical Features:
    • Immediate/early severe respiratory distress: cyanosis, tachypnea, retractions.
    • Scaphoid abdomen (empty, concave).
    • Bowel sounds audible in chest.
    • Barrel-shaped chest.
    • Displaced heart sounds.

⭐ Key pathophysiological defects are pulmonary hypoplasia (often bilateral, though defect is unilateral) and persistent pulmonary hypertension (PPHN).

Diagnosis & Management - Spot, Stabilize, Sew

Chest X-ray: Congenital Diaphragmatic Hernia

  • Diagnosis (Spot)

    • Prenatal US: Polyhydramnios, mediastinal shift, bowel/liver in chest.
    • Postnatal: Resp. distress, scaphoid abdomen, ↓ breath sounds. CXR confirms.
  • Management (Stabilize & Sew)

    • 📌 Intubate, NG/OG tube, Stabilize, Surgery (INSure Survival!)
    • ⭐ Immediate postnatal management: intubate, decompress stomach/bowel with NG/OG tube, and strictly avoid bag-mask ventilation.

    • Stabilize: Gentle vent; Target $PaCO_2$ 45-65 mmHg; PPHN (iNO, ECMO).
    • Surgical repair: After stabilization (24-72 hrs).

Prognosis & Complications - The Long Haul

  • Survival: ~70-90% with modern neonatal care.
  • Prognosis hinges on:
    • Pulmonary hypoplasia severity.
    • Associated anomalies.
    • Persistent pulmonary hypertension (PPHN).

⭐ Prenatally measured Lung-to-Head Ratio (LHR) and liver herniation ('liver-up') are critical prognostic indicators.

  • Long-term sequelae:
    • Chronic lung disease, GERD.
    • Neurodevelopmental delay, hearing loss.
    • Recurrence, chest wall deformities (scoliosis/pectus).

High‑Yield Points - ⚡ Biggest Takeaways

  • Bochdalek hernia (left posterolateral) is the most common CDH.
  • Defect in pleuroperitoneal membrane closure is the cause.
  • Pulmonary hypoplasia and pulmonary hypertension are critical determinants of survival.
  • Presents with respiratory distress, scaphoid abdomen, and bowel sounds in chest at birth.
  • Diagnosis: prenatal ultrasound or postnatal chest X-ray showing bowel in thorax.
  • Management: Immediate intubation, gastric decompression, delayed surgical repair after stabilization.
  • Associated anomalies, especially cardiac, are common and impact prognosis.

Practice Questions: Congenital Diaphragmatic Hernia

Test your understanding with these related questions

What is the most common site of congenital diaphragmatic hernia?

1 of 5

Flashcards: Congenital Diaphragmatic Hernia

1/9

The congenital penile abnormality _____ is associated with inguinal hernia and cryptorchidism

TAP TO REVEAL ANSWER

The congenital penile abnormality _____ is associated with inguinal hernia and cryptorchidism

hypospadias

browseSpaceflip

Enjoying this lesson?

Get full access to all lessons, practice questions, and more.

Start Your Free Trial