Table of Contents
Definition of Esophageal Atresia
Esophageal atresia (or oesophageal atresia) describes a malformation of the esophagus, a congenital medical condition that affects the alimentary tract. It is characterized by a discontinuity of the esophagus and a tracheoesophageal fistula between the esophagus and the trachea. Esophageal atresia is present in 1 out of 3,500 live births.
Syndromes associated with esophageal atresia
A disorder that affects many body systems, the disease is often (up to 50% of cases) associated with other malformations such as VACTERL syndrome and CHARGE syndrome.
- Vertebral defects
- Anal atresia
- Cardiac defects (up to 30% of cases)
- Tracheoesophageal fistula
- Renal abnormalities
- Limb abnormalities
- Heart defects
- Atresia of the choanae
- Retardation of mental and/or physical development
- Genital hypoplasia
- Ear abnormalities
Pathophysiology of Esophageal Atresia
What causes esophageal atresia?
The esophagus develops in the embryonic period from the foregut. First, there appears a connection between the respiratory and digestive pathways which will be closed in the course of development by the esophagotracheal septum up to the proximal sector.
Disturbances in this development, during the 4th up to the 6th weeks of pregnancy, often cause the esophagus to end in a blind-ended pouch, rather than connecting normally to the stomach, frequently in combination with a tracheoesophageal fistula in the lower section.
Classification by Vogt
Classification of esophageal atresia
Esophageal atresia may be divided into types 1–3 according to Vogt:
- Vogt 1 (< 1%): esophageal aplasia, with no esophagus
- Vogt 2 (about 10%): esophageal atresia without a tracheoesophageal fistula
- Vogt 3a (< 1%): esophageal atresia with a proximal tracheoesophageal fistula
- Vogt 3b (80%): esophageal atresia with a distal tracheoesophageal fistula
- Vogt 3c (5%): esophageal atresia with a proximal and distal tracheoesophageal fistula
And finally, there is ‘H-fistula’: in this case, tracheoesophageal fistula exists but there is no esophageal atresia.
Symptoms of Esophageal Atresia
- An intrauterine complication that may end with preterm labor and preterm birth is known as polyhydramnios. The fetus swallows amniotic fluid, which does not reach the gastrointestinal tract and cannot be absorbed due to the malformation, but it accumulates.
- Noticeable symptoms in newborn babies are frequent bouts of coughing and rattling breathing with respiratory disorders such as cyanosis.
In the case of H-fistula, the symptoms appear in the later stage since there is no discontinuity of the esophagus. However, due to the existing fistula between the esophagus and the trachea, the baby often coughs and demonstrates aspiration from food at feeding time. The children often suffer from respiratory infections including pneumonia, due to a high risk of aspiration.
Diagnosis of Esophageal Atresia
In some cases, the esophageal atresia can be diagnosed by prenatal ultrasonography, especially in the 3rd trimester.
In newborns, on suspicion of esophageal atresia, as a first step, the physician may use a gastric tube which can provide the 1st indication; The gastric tube should be protruded 10 cm deep, but not longer, so that the examiner may encounter resistance. The physician may inject air into the tube and check its location with a stethoscope: Typical gurgles cannot be auscultated as usual over the stomach. Also, no stomach contents can be aspirated (except for the case with H-fistula).
A chest X-ray can help in the diagnosis of esophageal atresia. The ‘blind sac’ sign is shown in the superior mediastinum in this study. The esophagus in its upper part is air-filled and demonstrates increased transparency up to its discontinuity. If contrast medium was used, the ‘blind sac’ appears to look hyper-transparent. In the case of a tracheoesophageal fistula, an air-filled stomach is also evident due to the connection between the trachea and the esophagus.
In endoscopy, a tracheoesophageal fistula can be represented particularly well.
Due to the known VACTERL and CHARGE syndrome, further targeted diagnostics of the associated medical conditions should always be conducted.
Similar clinical patterns as in the case of esophageal atresia
If a newborn baby has the symptoms described above, other medical conditions should be kept in mind along with esophageal atresia. During a cesarean section, a newborn may swallow a big amount of amniotic fluid and then produce frothy sputum. However, this should be self-adjusted after the corresponding expectoration. Furthermore, achalasia, esophageal stenosis or impaired swallowing reflex could have similar clinical patterns.
Therapy of Esophageal Atresia
Treatment options for esophageal atresia
The operation is not an emergency procedure; however, it should take place within the 1st 2 days of life. Preoperatively, a baby must not be fed or intubated to avoid aspiration. Using a gastric tube, salivary secretion can be derived from the upper esophageal section. Parenteral nutrition as well as an adequate fluid and electrolyte balance is necessary. If you suspect aspiration pneumonia, a course of antibiotics should be prescribed.
When operating, it should be attempted to anastomose the 2 esophageal ends with each other; any existing fistula should be closed. If a direct end-to-end anastomosis is not possible, a gastric pull-up as an esophageal replacement with plastic tubes may be required.
Prognosis of Esophageal Atresia
The prognosis is usually very good, but it is also optionally dependent on the additional malformations. Unfortunately, during the operation, fairly frequent long-term complications, such as (GERD) a gastroesophageal reflux disease, or anastomotic stenosis may occur.