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A diaphragmatic hernia is an abnormal opening in the diaphragm that allows part of the abdominal organs to migrate into the chest cavity, occurring before birth.
Causes, incidence, and risk factors
A diaphragmatic hernia is caused by the improper fusion of structures during fetal development. The abdominal organs such as the stomach, small intestine, spleen, part of the liver, and the kidney appear in the chest cavity. The lung tissue on the affected side is thus not allowed to completely develop. Respiratory distress usually develops shortly after the baby is born because of ineffective movement of the diaphragm and crowding of the lung tissue which causes collapse. The reason why this occurs is not known.
Congenital diaphragmatic hernia is seen in 1/2200 to 1/5000 live births with the vast majority (80 to 90%) occurring on the left side. There is a 2% recurrence rate in first degree relatives of a patient with the disease.
Symptoms
severe breathing difficulty
bluish coloration of the skin due to lack of oxygen
fast breathing (tachypnea)
asymmetry of the chest wall
fast heart rate (tachycardia)
Signs and tests
The pregnant mother may have shown signs of polyhydramnios (excessive amounts of amniotic fluid). Fetal ultrasound may show abdominal contents in the chest cavity.
Examination of the infant shows:
chest movements asymmetric with breathing
breath sounds absent on the affected side
bowel sounds heard in the chest
concave abdomen that feels less full on examination by touch (palpation)
A chest X-ray may show abdominal organs in chest cavity.
Treatment
A diaphragmatic hernia is a surgical emergency. The abdominal organs must be replaced into the abdominal cavity, and the opening in the diaphragm repaired. Support of the respiratory system is necessary immediately after birth until the infant recovers from surgery. Some infants are placed on ECMO (extracorporeal membrane oxygenation) which is a heart/lung bypass machine which gives the lungs a chance to recover and expand after surgery.
If a diaphragmatic hernia is diagnosed early in gestation (~24 to 28 weeks), fetal surgery may be an option to be considered.
Expectations (prognosis)
Congenital diaphragmatic hernia is a very serious disorder. The lung tissue may be underdeveloped on the affected side, and the outcome depends upon the development of the lung tissue. With advances in neonatal and surgical care, survival is now greater than 80%. A poor prognosis, however, is associated with polyhydramnios, presence of the fetal stomach in the chest, and an early presentation (i.e., distress in the first few hours of life). Infants who survive may have long-term complications including persistent pulmonary hypertension (PPHN), recurrent lung infections, and gastrointestinal problems.
Complications
pulmonary (lung) infections
other congenital anomalies may be present