Update May 8, 2021

Content 5

Esophageal atresia (EA) is a rare birth defect in which a baby is born without part of the esophagus (the tube that connects the mouth to the stomach). Instead of forming a tube between the mouth and the stomach, the esophagus grows in two separate segments that do not connect. In some children, so much of the esophagus is missing that the ends can't be easily connected with surgery. This is known as long-gap EA.

EA frequently occurs along with tracheoesophageal fistula (TEF), and as many as half of all babies with EA/TEF have another birth defect, as well. Without a working esophagus, it's impossible to receive enough nutrition by mouth. Babies with EA are also more prone to infections like pneumonia and conditions such as acid reflux. Luckily, EA is usually treatable.

There are four types of esophageal atresia (EA):

Type A. The upper and lower segments of the esophagus end in pouches, like dead-end streets that don't connect. Tracheoesophageal fistula (TEF) is not present.

Type B. The lower segment ends in a blind pouch. TEF is present on the upper segment. This type is very rare.

Type C. The upper segment ends in a blind pouch. TEF is present on the lower segment. This is the most common type.

Type D. TEF is present on both upper and lower segments. This is the rarest form of EA/TEF.

The exact cause of EA is still unknown, but it appears to have some genetic components. Up to half of all babies born with EA have one or more other birth defects, such as:

EA and TEF are also often found in babies born with VACTERL (vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies and limb abnormalities) syndrome. Not all babies born with VACTERL syndrome have abnormalities in all of these areas.

Long-gap EA may also result from surgery to try to fix a milder case of EA, or to repair a TEF.

Content 4

How we care for esophageal atresia

Although EA can be life-threatening in its most severe forms and could cause long-term nutritional concerns, the majority of children fully recover if it's detected early. The best treatment for EA is usually surgery to reconnect the two ends of the baby's esophagus to each other. The Esophageal and Airway Treatment Center at Boston Children's Hospital is one of the only programs in the country specifically designed to care for children with all forms of EA. After a diagnosis has been made, our team of experts will meet to review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options.

Our areas of innovation for esophageal atresia

Until recently, EA was a condition with no truly satisfactory treatment options. Previous treatments involved stressful stretching of the esophagus, drastic repositioning of internal organs such as gastric and colon esophageal interposition. For a child with long-gap EA, the revolutionary Foker process encourages natural growth and lengthening of a child's existing esophagus with the end result being an intact esophagus. The Esophageal and Airway Treatment Center is the world's only center offering the Foker process.

 

Content 6

Soon after birth, a term newborn infant presents with increased oral secretions and mild respiratory distress. Which of the following is the most likely diagnosis?

  •  

    A. Persistent pulmonary hypertension of the newborn

  •  

    B. Pneumonia

  •  

    C. Esophageal atresia

  •  

    D. Respiratory distress syndrome (surfactant deficiency syndrome)

  •  

    E. Diaphragmatic hernia

The answer is C. Esophageal atresia in a newborn is characterized by increased oral secretions as a result of the accumulation of saliva in the proximal esophageal pouch. Respiratory distress may occur if the infant aspirates this saliva. The presence of a distal tracheoesophageal fistula may also result in the passage of gastric contents to the trachea and lung, exacerbating the respiratory problem. Half of children with esophageal atresia have other congenital malformations, such as congenital heart disease. Both pneumonia and persistent pulmonary hypertension of the newborn also present with respiratory distress, but without increased oral secretions. Respiratory distress syndrome occurs less commonly in term infants, and increased oral secretions are not expected. Congenital diaphragmatic hernia usually presents with acute respiratory distress soon after birth in a newborn with a scaphoid abdomen. Bowel sounds can be heard on auscultation of the chest. 

USMLE Reviewer

(By Subscription)