Congenital Anomalies of Esophagus Clinical Presentation

Updated: Jun 15, 2021
  • Author: Mark V Mazziotti, MD, MEd; Chief Editor: Eugene S Kim, MD, FACS, FAAP  more...
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History and Physical Examination

The earliest clinical sign of an infant with esophageal atresia (EA) is polyhydramnios resulting from the infant's inability to swallow and absorb amniotic fluid through the gut. On ultrasonography (US), the infant may have a small or absent stomach. Note that polyhydramnios is observed in infants with many diagnoses. Only one in 12 infants with polyhydramnios has EA.

Polyhydramnios is observed in 95% of infants with EA and no fistula and in 35% of patients who have EA with a distal fistula. Increased pressure because of the amniotic fluid accumulation results in a higher number of premature births and newborns with low birth weight. One third of infants with EA weigh less than 2250 g.

Postnatally, infants with pure EA become symptomatic within the first few hours of life. Children with an isolated tracheoesophageal fistula (TEF) have more subtle symptoms that may not be initially recognized. Excess salivation and fine frothy bubbles in the mouth and sometimes the nose result from an inability to swallow. Any attempts at feeding result in choking, coughing, cyanotic episodes, and food regurgitation.

The presence of a fistula increases the risk of aspiration of gastric secretions into the trachea and lungs. Pneumonitis and atelectasis develop quickly in these neonates, and rattles heard during respirations are common. Fistulas also allow air to enter into the stomach and intestines, which can lead to abdominal distention. Gastric perforations occur, especially in the presence of imperforate anus. In the presence of atresia alone, the abdomen appears scaphoid.

Many anomalies are associated with EA, and 50-70% of children with EA have some other defect. The VACTERL association describes the following more commonly associated combination of defects: vertebral, anorectal, cardiac, tracheal, esophageal, renal, and limb. Cardiac abnormalities are the most common, especially ventricular septal defects and tetralogy of Fallot. Imperforate anus and skeletal malformations may also be found upon examination. In the absence of such associated anomalies, the physical examination findings of infants with EA are fairly unremarkable.

Symptoms of congenital esophageal stenosis related to membranous webs, diaphragm muscular hypertrophy, or tracheobronchial remnants occur in infancy with progressive dysphagia and vomiting. Most patients present after semisolid or solid foods are introduced. More rarely, patients with congenital stenosis present with regurgitation and aspiration as newborns. A foreign body in the esophagus may be the first symptom. Cysts may be identified on chest radiography or computed tomography (CT) obtained for recurrent pneumonia or unrelated reasons.