Esophageal Atresia With or Without Tracheoesophageal Fistula Clinical Presentation

Updated: May 12, 2017
  • Author: Amulya K Saxena, MD, PhD; Chief Editor: Eugene S Kim, MD, FACS, FAAP  more...
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Presentation

History and Physical Examination

A mother who is carrying a fetus with esophageal atresia may have polyhydramnios, which occurs in approximately 33% of mothers with fetuses with esophageal atresia and distal tracheoesophageal fistula (TEF) and in virtually 100% of mothers with fetuses with esophageal atresia without fistula.

Characteristically, the neonate born with esophageal atresia drools and has substantial mucus, with excessive oral secretions. If suckling at the breast or bottle is allowed, the baby appears to choke and may have difficulty maintaining an airway. Significant respiratory distress may result. In the delivery room, the affected infant may have the sonorous seal-bark cough that indicates concomitant tracheomalacia. If an oral tube is placed to suction the stomach, as it is in some delivery rooms, it characteristically becomes blocked 10-11 cm from the lips.

The acronym VACTERL (vertebral defects, anorectal malformations, cardiovascular defects, tracheoesophageal defects, renal anomalies, and limb deformities) refers a set of associated anomalies that should be readily apparent upon physical examination. [20, 21] If any of these anomalies are present, the presence of the others must be assessed. The VACTERL syndrome exists when three or more of the associated anomalies are present. This syndrome occurs in approximately 25% of all patients with esophageal atresia.

VACTERL anomalies include the following:

  • Vertebral defects - Multiple or single hemivertebrae, scoliosis, rib deformities
  • Anorectal malformations - Imperforate anus of all varieties, cloacal deformities
  • Cardiovascular defects -  Ventricular septal defect (most common), tetralogy of Fallot, patent ductus arteriosus, atrial septal defects, atrioventricular canal defects, aortic coarctation, right-sided aortic arch, single umbilical artery
  • Tracheoesophageal defects - Esophageal atresia
  • Renal anomalies - Renal agenesis including Potter syndrome, bilateral renal agenesis or dysplasia, horseshoe kidney, polycystic kidneys, urethral atresia, ureteral malformations
  • Limb deformities - Radial dysplasia, absent radius, radial-ray deformities, syndactyly, polydactyly, lower-limb tibial deformities

Other associated conditions include the CHARGE (coloboma, heart defects, atresia choanae, developmental retardation, genital hypoplasia, and ear deformities) anomalies.

The following anomalies also occur with increased frequency in esophageal atresia:

Also, trisomies 13, 21, or 18 and Fanconi syndrome may be present. The overall incidence of associated anomalies is approximately 50%. Cardiovascular anomalies occur in 35% of cases, genitourinary anomalies occur in 20% of cases, and associated GI anomalies occur in approximately 20% of cases. A tethered cord is usually detectable with ultrasonography in the newborn period or later in life with magnetic resonance imaging (MRI)—or, less desirably, computed tomography (CT)—if findings are equivocal.