Congenital Esophageal Anomalies and Diaphragmatic Hernias

● Epidemiology ● Esophageal atresia occurs in about 2.4 of every 10,000 live births, with a slight preponderance in males and children of older or diabetic mothers. Esophageal duplication cysts account for 10 to 15 percent of all foregut duplication cysts and only 5 to 10 percent of all mediastinal cysts. Congenital esophageal stenosis occurs in between 1:25,000 and 1:50,000 live births. Bochdalek posterolateral diaphragmatic hernias occur in 1:2000 to 1:5000 live births. Morgagni retrosternal diaphragmatic hernias comprise 1 to 5 percent of congenital diaphragmatic defects, occurring much less frequently than Bochdalek hernias. ● Pathophysiology ● Esophageal atresia constitutes a spectrum of incomplete esophageal development, sometimes coupled with communication to the tracheobronchial tree. This can result in discontinuity between the oropharynx and stomach, leading to feeding difficulties and a predisposition for respiratory infections. Esophageal duplication cysts can occur all along the esophagus, can be intramural, partitioned completely from the esophageal true lumen, or may communicate with it. Esophageal stenosis and webs can partially or completely obstruct the esophageal lumen. Much of the morbidity associated with these esophageal malformations is derived from a spectrum of associated malformations (i.e., cardiac, renal, neurologic, skeletal). Bochdalek diaphragmatic hernias result in displacement of abdominal viscera into a pleural space (usually the left side), leading maldevelopment of the ipsilateral lung; the associated contralateral mediastinal shift can also affect contralateral lung development. The end result is hypoxia and varying degrees of pulmonary hypertension. Morgagni hernias result in herniation of abdominal viscera into the mediastinum and can cause intestinal obstructive pathophysiology.