Esophageal atresia

Esophageal atresia (EA) is a congenital malformation in which the esophagus (the tube that connects the mouth to the stomach) fails to develop as a continuous passage. Instead, the esophagus ends in a blind pouch, preventing food and saliva from reaching the stomach normally. In the majority of cases (approximately 85%), esophageal atresia occurs together with a tracheoesophageal fistula (TEF), an abnormal connection between the esophagus and the trachea (windpipe). This condition is typically detected at birth or shortly thereafter when the newborn presents with excessive drooling, choking, coughing, and cyanosis (bluish skin discoloration) during the first feeding attempt. Inability to pass a nasogastric tube into the stomach is a classic diagnostic finding. Esophageal atresia primarily affects the gastrointestinal and respiratory systems. Approximately 50% of affected infants have additional associated anomalies, most commonly as part of the VACTERL association, which includes vertebral defects, anorectal malformations, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities. Cardiac anomalies are the most common associated malformations and are a significant determinant of prognosis. Other associated conditions may include chromosomal abnormalities such as trisomy 18 or trisomy 21. The primary treatment for esophageal atresia is surgical repair, ideally performed within the first few days of life. The standard procedure involves closing the tracheoesophageal fistula (if present) and performing a primary anastomosis to reconnect the two ends of the esophagus. In cases of long-gap esophageal atresia, where the distance between the esophageal segments is too great for primary repair, delayed repair techniques or esophageal replacement procedures (using stomach, colon, or jejunum) may be necessary. Survival rates have improved dramatically with advances in neonatal surgery and intensive care, now exceeding 90% in infants without severe associated anomalies. Long-term complications may include gastroesophageal reflux, esophageal stricture, dysphagia, tracheomalacia, and recurrent respiratory infections, requiring ongoing multidisciplinary follow-up.

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Common questions about Esophageal atresia