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Image : The 1st stitch was completed proximal to the arch of the azygos. All the next procedures were taking place proximally to the azygos vein, leaving the vein untouched. By Joana Fonte, Catarina Barroso, Ruben Lamas-Pinheiro, Ana R. Silva, and Jorge Correia-Pinto, License: CC BY 4.0


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

And

  • Coloboma
  • 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.

Note: Esophageal atresia with a lower tracheoesophageal fistula (Vogt 3b) represents 80% the most frequent form of esophageal atresia!

Symptoms of Esophageal Atresia

Prenatal:

  • 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.

Postnatal:

  • 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

Diagnostic imaging

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).

Esophageal Atresia Type 2

Image: Vogt esophageal atresia type 2: contrast medium in the upper blind sac. No air in the gastrointestinal tract. By Hellerhoff, License: CC BY-SA 3.0

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.

Esophageal Atresia Type 3b

Image: Vogt esophageal atresia type 3b: contrast medium in the upper blind sac. Abundant air in the gastrointestinal tract. By Hellerhoff, License: CC BY-SA 3.0

Note: In the chest X-ray you may scan the ‘blind sac’ and diagnose esophageal atresia.

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.

Differential Diagnoses

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.

Note: In the case of suspicion of esophageal atresia, the baby should not be fed!
Oesophageal atresia

Image: Oesophageal atresia. By Spitz L – Orphanet J. Rare Dis (2007), License: CC BY 2.0

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.

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2 thoughts on “Esophageal Atresia — Symptoms and Treatment

  • Antonio

    Hello, thank you for this article it is really great and informative, very useful. I have a question regards the 3th question. If a newborn has esophageal atresia and tracheosophageal fistula, shouldn’t we think about VACTERL phenomenon? If so, why the answer is D?

    1. Hannah Crass

      Hello Antonio,

      thank you, we appreciate the compliment. Of course you are absolutely right, there was an error in the question. We have now changed it to “Which of these additional defects would you least suspect?”. That way, the answer D is correct. Congratulations on your attentiveness and judgement!

      Regards,
      Lecturio Medical Magazine