Congenital diaphragmatic hernia (CDH) is a rare congenital anomaly of the diaphragm with an incidence of approximately 1 per 2500 births. Typically, the abdominal organs will herniate into the chest cavity, with resulting maldevelopment of the alveoli and pulmonary vessels. The defect is usually – reportedly in 84% of the cases – located on the left side of the diaphragm. Right-sided CDH and bilateral CDH, which occur in 14% and 2% of cases, are associated with a worse prognosis. CDH can present as an isolated defect or in combination with other congenital anomalies, such as congenital heart disease or chromosomal anomalies. The condition may be life threatening and key determinants of mortality are the severity of pulmonary hypoplasia and the presence of therapy resistant pulmonary hypertension. Smaller number and generations of airways, thickened alveolar septa, and abnormal architecture of the respiratory acinus characterize pulmonary hypoplasia. Pulmonary hypertension may result from medial hyperplasia and adventitial thickening associated with under- and maldevelopment of the pulmonary vessels. Although survival rates have improved over the years, mortality rates in live-born patients still range from 10-35%, depending on case selection. Moreover, surviving neonates carry a substantial risk of developing secondary morbidity, such as cardiopulmonary, gastro-intestinal and neurological problems.

D. Tibboel (Dick)
Erasmus MC: University Medical Center Rotterdam
Sophia Stichting Wetenschappelijk Onderzoek
Erasmus MC: University Medical Center Rotterdam

de Jongste-van den Hout, L. (2011, June 30). A new Light on Lung Disease in Congenital Diaphragmatic Hernia. Erasmus MC: University Medical Center Rotterdam. Retrieved from