A diaphragmatic hernia is a posterolateral opening or weakness in the diaphragm that allows abdominal organs to push into the thorax. The hernia may also include an ectopic kidney. Congenital or acquired, the herniation and subsequent crowding of the hemithorax causes breathing impairment, and in utero, interferes with normal fetal development of blood vessels and pulmonary airways. It may be diagnosed prenatally or noted within the first few hours of life when the neonate experiences respiratory distress. Characterized by dyspnea, absent breath sounds, and failure to thrive in the neonate, and in later-onset cases, respiratory and gastrointestinal symptoms. Severe, life-threatening complications, including pulmonary hypoplasia and persistent pulmonary hypertension, pose an increased risk of death.

Prognosis varies depending on extent of organ damage. Factors impacting survival are associated cardiac abnormalities, prematurity, size of defect, hospital transport delay, pulmonary hypertension, and low oxygen saturation. Management focuses first on treatment of pulmonary hypoplasia and pulmonary hypertension, then surgical repair.

Related topic: congenital diaphragmatic hernia