Etiology and Pathogenesis

The esophagus forms from a small ventral diverticulum of the embryonic foregut. This diverticulum separates into the esophagus and trachea around the fourth gestational week of fetal development. Anomalies can occur with abnormalities in any step in esophageal formation and development. One of the most common anomalies is TEF with or without atresia. This occurs when there is a disruption in the elongation and separation of the trachea from the esophagus. There are five types of TEF. The most common is type C in which there is atresia of the proximal esophagus with a fistula from the trachea to the distal esophagus (Figure 107-1). Other categories of TEF, in descending frequency, include isolated esophageal atresia without TEF, isolated TEF, esophageal atresia with proximal TEF, and esophageal atresia with proximal and distal TEF.

Figure 107-1 Tracheoesophageal fistula.

Congenital disorders of the esophagus are often associated with polyhydramnios as a result of the infant’s inability to swallow and absorb amniotic fluid and with prematurity. As many as 70% of children with esophageal abnormalities may have other congenital anomalies, including imperforate anus, vertebral anomalies, duodenal atresia, and annular pancreas. The VACTERL association is a combination of defects that are commonly found together: vertebral anomalies, anorectal atresia, cardiac anomalies, tracheoesophageal fistula, esophageal atresia, renal anomalies, and limb anomalies.

Clinical Presentation

A neonate with an esophageal congenital anomaly may present with episodes of respiratory distress worsened by feeding, regurgitation, a history of multiple episodes of pneumonia, or failure to thrive. Older children may present with dysphagia, regurgitation, halitosis, or respiratory symptoms. The severity of symptoms depends on the degree of esophageal compression or obstruction.

Evaluation and Management

Esophageal atresia or complete esophageal obstruction can be diagnosed by an inability to pass an orogastric or nasogastric tube into the stomach. TEF may be suggested on abdominal or chest radiograph; however, an isolated TEF (H-type) is best detected by esophagography with contrast. Barium swallow or endoscopy can be useful in diagnosing stenosis or incomplete obstruction from a web, ring, cyst, or diverticulum. Surgical correction is required to treat most congenital anomalies.

Etiology and Pathogenesis

Striated muscle makes up the upper esophageal sphincter along with the proximal one-third of the esophagus. Smooth muscle composes the remaining two-thirds. The lower esophageal sphincter (LES) is a physiologic sphincter. There is a rich nerve supply to the esophagus. Motility problems can arise from muscular disorders (polymyositis, dermatomyositis, muscular dystrophy, myasthenia gravis), neurologic disorders (stroke, multiple sclerosis, lead poisoning), systemic illness (lupus, scleroderma, sarcoidosis, thyroid disease, diabetes), or infection (tetanus, botulism, Trypanosoma cruzi infection).

Clinical Presentation

Evaluation

Achalasia

Chest radiograph may show widening of the mediastinum, loss of the gastric air bubble, or an esophageal air-fluid level. Barium swallow will show impaired contrast movement, abnormal peristalsis, and tapering of the distal esophagus known as the “bird’s beak” sign (Figure 107-2). Endoscopy should always be performed and often shows esophageal dilatation, erythema, and ulceration from stasis. Esophageal manometry assesses LES pressures and function in addition to esophageal contraction and motor pattern. In achalasia, manometry shows increased lower esophageal pressure, abnormal peristalsis, and elevated intraesophageal pressures.

Figure 107-2 Barium swallow findings seen with achalasia.

Management