Diaphragmatic Hernia, Congenital

• • 1/2000 to 1/5000 births

  • 33% with associated congenital defects, including neural tube defects and cardiac defects

  • 80% are left-sided; 20% are right-sided

  • Right side, hepatic veins may drain ectopically into right atrium

  • 10-20% present after first 24 hrs

  • Associated with pulmonary hypoplasia on affected side

Symptoms and Signs

• • Dyspnea

  • Chest retractions

  • Decreased breath sounds on affected side

  • Polyhydramnios prenatally (80%)

  • Cyanosis

  • Scaphoid abdomen

Laboratory Findings

• • Respiratory acidosis

Imaging Findings

• • Prenatal US: Accurate in 40-90% of cases showing herniation of abdominal contents in thorax

  • Chest film: Herniation of abdominal contents into thorax and associated pulmonary hypoplasia with occasional compression of mediastinum away from affected side

• • Cardiac and neural tube defects

Rule Out

• • Associated neural tube or cardiac defects

• • History and physical exam

  • Chest x-ray

  • ABG measurements

  • Echocardiogram

  • US for neural tube defects

Surgery

Indications

• • Primary repair or using mesh once respiratory status has been stabilized and optimized

Medications

• • Mechanical ventilation if necessary

  • NG decompression

  • High frequency oscillatory ventilation if necessary

  • Extracorporeal membrane oxygenation (ECMO) if necessary

Complications

• • Chronic lung disease

  • Skeletal muscle abnormalities

  • Acute respiratory failure postoperatively

  • Developmental delay

  • Growth delay

Prognosis

• • 39-95% survival

Prevention

• • In utero intervention under investigation but not yet consistently beneficial

References