Esophageal Atresia: Specialists and Information

Esophageal atresia may be due to a genetic cause. Several factors point to this, such as a slight but noticeable familial clustering. On the other hand, isolated cases without a family history of the condition also occur, which do not allow for a conclusion regarding heredity within the family.

The malformation most likely arises during the ontogenetic development phase: during this phase, the trachea separates from the esophagus. In many cases, the fetus is unable to swallow amniotic fluid. As a result, an amniotic fluid bubble forms. This symptom is often associated with an absent gastric pouch and delayed growth in the child.

After birth, esophageal atresia manifests as increased salivation. In addition, the newborn has difficulty breathing, coughs frequently, and suffers from shortness of breath. If an attempt is made to feed the child, the food enters the trachea, leading to cyanosis (blue discoloration of the skin).

If attempts to insert a feeding tube through the mouth or nose are met with resistance, esophageal atresia is virtually certain.

According to Vogt, esophageal atresia is classified into different types, which occur with varying frequencies. The reported frequencies vary from author to author.

• Type 1: Complete absence of the esophagus (aplasia). Prevalence: less than 1%.
• Type 2: Malformation of the esophagus without a fistula between the trachea and the esophagus. Prevalence: approximately 10%.
• Type 3a: Fistula in the upper segment, while the lower segment ends in a blind pouch. Prevalence: less than 1%.
• Type 3b: Fistula in the lower segment, while the upper segment ends in a blind pouch. Prevalence: approximately 80%.
• Type 3c: Fistulas in both segments. Prevalence: approximately 5%. Some classifications also recognize a fourth type, in which a fistula occurs without a malformation.

Types 2–4 of esophageal atresia © Atrezia.jpg / Wikimedia Commons (License)

Esophageal atresia frequently occurs in conjunction with other malformations. Their correlation is summarized under the term VACTERL association. These are malformations of the following body segments:

• Spine (vertebrae)
• Gastrointestinal tract (anal)
• Heart (cardiac)
• Esophagus (tracheoesophageal)
• Kidney (renal)
• Limbs

A concurrent malformation of these body parts increases the likelihood of esophageal atresia in the presence of the aforementioned symptoms.

If there is a swallowing disorder and the fetus’s absorption of amniotic fluid is prevented by a fistula, an amniotic fluid bubble forms. This can be detected using an ultrasound examination. However, excessive amniotic fluid alone is not sufficient evidence of esophageal atresia.

In combination with the absence of a gastric bubble, however, the symptoms clearly indicate a malformation of the esophagus. This is particularly true if the child is smaller than would be expected for its stage of development due to complications with amniotic fluid intake.

If the condition does not become apparent before birth, additional symptoms such as shortness of breath and drooling may occur (see Symptoms). To confirm the diagnosis after birth, an X-ray of the upper body is performed.

The malformation can be corrected with surgery, specifically an end-to-end anastomosis. However, this is usually performed only after the child has been sufficiently stabilized. In emergencies, however, earlier surgical intervention may be necessary.

The procedure begins with an incision below the armpit. The two separate ends of the esophagus are then opened and connected to one another. During suturing, depending on the type of malformation, the fistula between the esophagus and the trachea is closed.

Following the surgery, the child is fed via a nasogastric tube. After ten days, the surgical suture is examined by a doctor. If both the tightness and quality of the suture are satisfactory, the child can then be fed orally. Further feeding via the nasogastric tube is no longer necessary.

In some cases, multiple surgeries are necessary, especially if the ends of the esophagus are too far apart.

Diligent follow-up care is of great importance in the period following surgery. The child’s hospital stay is not concluded until they have reached a normal weight. They must also have become accustomed to a special diet plan.

Even after the child has left the hospital, regular follow-up examinations are necessary. They help minimize the risk of complications and detect them early if necessary.

Possible complications include:

• gastroesophageal reflux (backflow of stomach acid into the esophagus)
• tracheomalacia (a soft, flaccid windpipe) and resulting pneumonia
• Narrowing of the esophageal anastomosis

If complications are detected early enough, it is possible to treat them with additional surgical procedures, thereby permanently improving the child’s quality of life. This makes it all the more important to carefully adhere to the follow-up appointments.

The survival rate for esophageal atresia is about 90 percent.