Congenital diaphragmatic hernia

Congenital diaphragmatic hernia

Congenital diaphragmatic hernia

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🕳️ Anatomy - A Hole in the Floor

A developmental defect in the diaphragm from incomplete fusion of pleuroperitoneal membranes, typically by week 8-10 of gestation. This allows abdominal viscera to enter the thorax.

CDH: Normal vs. anomalous development & Bochdalek hernia

  • Bochdalek Hernia (Posterolateral):
    • Most common type (~85%).
    • Defect in the foramen of Bochdalek.
    • 📌 Bochdalek = Back & lateral.
  • Morgagni Hernia (Anteromedial):
    • Rare, defect in the foramen of Morgagni.

85% of Bochdalek hernias are on the left. The liver's position on the right may physically block herniation, and the right pleuroperitoneal canal closes earlier.

🌬️ Pathophysiology - Lungs Under Pressure

CDH: Normal vs. Anomalous Development & Embryology

  • Primary issue: Pulmonary hypoplasia & pulmonary hypertension, not the diaphragmatic hole itself. Herniation during lung organogenesis compresses the developing lungs, leading to:
    • ↓ Alveoli & bronchioles.
    • Thickened pulmonary arterioles → ↑ Pulmonary Vascular Resistance (PVR).
    • Commonly, surfactant deficiency.

⭐ The main cause of mortality is severe pulmonary hypoplasia and persistent pulmonary hypertension (PPHN), leading to right-to-left shunting and profound hypoxemia.

👶 Clinical Manifestations - The Empty Belly Blues

  • Immediate Postnatal Distress:

    • Severe respiratory distress (cyanosis, tachypnea, retractions).
    • Often requires immediate intubation.
  • Physical Exam Findings:

    • Scaphoid abdomen: "Empty belly" as contents are in the chest.
    • Barrel-shaped chest: Due to herniated viscera.
    • Auscultation: Bowel sounds in chest; ↓/absent breath sounds on affected side.
    • Displaced heart sounds: Apex beat shifted away from hernia.

Left-sided (Bochdalek) hernias are most common (~85%), leading to a rightward mediastinal shift.

🩺 Diagnosis - Seeing the Unseen

  • Prenatal: Routine ultrasound may show polyhydramnios, an intrathoracic stomach bubble, and mediastinal shift.
  • Postnatal:
    • Clinical: Severe respiratory distress at birth, scaphoid abdomen, barrel-shaped chest.
    • Auscultation: Bowel sounds in the chest; absent breath sounds on the affected side (usually left).

⭐ Chest X-ray is the definitive diagnostic test, showing gas-filled loops of bowel in the hemithorax and contralateral mediastinal shift.

🛠️ Management - The Repair Crew

  • Initial: Intubate immediately, place NG tube for bowel decompression. ⚠️ Avoid bag-mask ventilation (insufflates stomach/bowel).
  • Ventilation: Gentle, low-pressure ventilation; permissive hypercapnia is often targeted.
  • Pulmonary HTN: Treat aggressively with inhaled nitric oxide (iNO), sildenafil.
  • ECMO: Bridge to surgery for severe respiratory failure or refractory pulmonary hypertension.

⭐ The primary cause of mortality is pulmonary hypoplasia and persistent pulmonary hypertension (PPHN), not the hernia itself. Surgery is delayed until the patient is stable.

⚡ Biggest Takeaways

  • Most common type is a left posterolateral Bochdalek hernia, allowing abdominal contents into the thorax.
  • Pulmonary hypoplasia and pulmonary hypertension are the primary drivers of mortality, not the defect itself.
  • Classic triad: respiratory distress from birth, a scaphoid abdomen, and bowel sounds in the chest.
  • Initial management is critical: intubate immediately and place an orogastric tube. AVOID bag-mask ventilation.
  • Surgical repair is performed only after medical stabilization, focusing on managing pulmonary hypertension.

Practice Questions: Congenital diaphragmatic hernia

Test your understanding with these related questions

An 8-year-old girl is brought to the emergency department by her parents with severe difficulty in breathing for an hour. She is struggling to breathe. She was playing outside with her friends, when she suddenly fell to the ground, out of breath. She was diagnosed with asthma one year before and has since been on treatment for it. At present, she is sitting leaning forward with severe retractions of the intercostal muscles. She is unable to lie down. Her parents mentioned that she has already taken several puffs of her inhaler since this episode began but without response. On physical examination, her lungs are hyperresonant to percussion and there is decreased air entry in both of her lungs. Her vital signs show: blood pressure 110/60 mm Hg, pulse 110/min, respirations 22/min, and a peak expiratory flow rate (PEFR) of 50%. She is having difficulty in communicating with the physician. Her blood is sent for evaluation and a chest X-ray is ordered. Her arterial blood gas reports are as follows: PaO2 50 mm Hg pH 7.38 PaCO2 47 mm Hg HCO3 27 mEq/L Which of the following is the most appropriate next step in management?

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Flashcards: Congenital diaphragmatic hernia

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What is the most common type of diaphragmatic hernia? _____

TAP TO REVEAL ANSWER

What is the most common type of diaphragmatic hernia? _____

Sliding hiatal hernia

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