Tracheoesophageal fistula and esophageal atresia are characterized by a separation between the proximal and distal ends of esophagus. The anomaly presents as five different types. Esophageal atresia associated with a distal tracheoesophageal fistula is by far the most common type of defect, occurring in 87% of affected infants and is associated with polyhydramnios. The development of recurrent pneumonias during the neonatal period is often the result of direct lung contamination from a congenital tracheoesophageal fistula. Acute episodes of aspiration are symptomatic, and affected individuals usually present with symptoms of pneumonia or respiratory distress, or both. The radiological manifestations are variable, depending on the spread and severity of the aspiration. The most common radiographic pattern is that of bronchopneumonia with scattered air-space opacities. Approximately 50% of infants with tracheoesophageal fistula have associated anomalies, most often involving the urinary, gastrointestinal, and cardiac systems. Tracheoesophageal fistula without oesophageal atresia is compatible with life and may go unnoticed for years or even decades. The incidence of esophageal atresia and tracheoesophageal fistula is approximately one in 4000-5000 live births, with both gender affected equally.
Althought familial cases have been reported, tracheoesophageal fistula/esophageal atresia is considered to be a multifactorial condition. Recent studies have shown the involvement of multiple genes including NMYC, SOX2, and CHD7 in the development of tracheoesophageal fistula/esophageal atresia.