• Clinical science

Esophageal atresia

Summary

Esophageal atresia is a congenital defect in which the upper esophagus is not connected to the lower esophagus, ending blindly instead. It is caused by the abnormal development of the tracheoesophageal septum. Esophageal atresia with a fistula connected distally to the trachea is the most common kind of esophageal malformation (classified as Gross type C). It presents immediately after birth with cyanotic attacks, foaming at the mouth, and coughing, and prevents any attempts to pass a feeding tube into the stomach. X‑ray is mandatory for classifying the atresia and should show an air‑filled pouch situated at the level of the third thoracic vertebra. Infants with suspected esophageal atresia cannot be fed orally because of the risk of aspiration pneumonia. Curative surgery must, therefore, be performed within the first 24 hours after birth.

Epidemiology

  • Incidence: approx. 1:4,300 live births in the US [1]

Epidemiological data refers to the US, unless otherwise specified.

Classification

Type A Esophageal atresia without tracheoesophageal fistula ∼ 8% of cases
Type B Esophageal atresia with tracheoesophageal fistula to the proximal esophageal segment ∼ 3% of cases
Type C Esophageal atresia with tracheoesophageal fistula to the distal esophageal segment ∼ 84% of cases
Type D Esophageal atresia with tracheoesophageal fistula to the proximal and distal esophageal segments ∼ 1% of cases
Type E H‑type tracheoesophageal fistula without atresia ∼ 4% of cases

References:[2][3]

Pathophysiology

  • A wedge of mesoderm called the tracheoesophageal septum separates the developing foregut (esophagus) from the trachea.
  • Esophageal atresia and tracheoesophageal fistula are caused by a defect in mesodermal differentiation
  • About 50% of cases are associated with other mesodermal defects (VACTERL association)
    • Vertebral anomaly
    • Anal atresia
    • Cardiac anomaly
    • Tracheoesophageal fistula
    • Esophageal atresia
    • Renal anomaly
    • Limb malformation

References:[4]

Clinical features

Prenatal

Postnatal

Newborns usually present with symptoms directly after birth! The exception is the Gross type E fistula: The diagnosis of a small H‑type tracheoesophageal fistula may occur as late as adulthood.

References:[2][5][6][3][7]

Diagnostics

  • Placement of a feeding tube: the feeding tube cannot pass through the esophagus in the case of esophageal atresia
  • X-ray of the thorax/abdomen
    • Esophageal pouch (except with an H‑type fistula)
    • Gross types A and B present with a gasless abdomen
  • Further diagnostics concerning VACTERL anomalies


References:[2]

Differential diagnoses

Differential diagnoses of newborn swallowing disorders
Differential diagnosis Findings
Esophageal atresia
Status post C‑section
  • Excessive secretions
  • Reversible condition, as opposed to esophageal atresia
Choanal atresia
  • Cyanotic attacks
  • Attacks normalize after crying or opening the mouth
Esophageal stenosis
  • Delayed diagnosis (after introduction of solid food)
  • Dysphagia
  • Regurgitation
Achalasia
  • Very rare during childhood
  • Delayed diagnosis (after introduction of solid food)
  • Dysphagia
  • Regurgitation
Defective swallowing reflex



References:[8][2][9][10]

The differential diagnoses listed here are not exhaustive.

Treatment

Preoperative

  • Placement of an oroesophageal or nasoesophageal tube for continuous suction of secretions to prevent aspiration and facilitate breathing
  • Upper body elevated, left lateral decubitus position
  • Antibiotics in case of aspiration pneumonia

Infants who potentially have esophageal atresia should not be fed orally under any circumstances!

Surgery

Surgical treatment should be performed within the first 24 hours of birth.

  • The goal is to reconnect the upper esophageal pouch and the lower esophagus.
  • A long gap between both ends of the esophagus may not allow primary repair.[

Postoperative

References:[2][3][5]

  • 1. CDC. Facts about Esophageal Atresia. https://www.cdc.gov/ncbddd/birthdefects/esophagealatresia.html#ref. Updated November 1, 2018. Accessed November 1, 2019.
  • 2. Puri P, Höllwarth M. Pediatric Surgery: Diagnosis and Management. Springer; 2009.
  • 3. Pinheiro PF, Simões e silva AC, Pereira RM. Current knowledge on esophageal atresia. World J Gastroenterol. 2012; 18(28): pp. 3662–3672. doi: 10.3748/wjg.v18.i28.3662.
  • 4. Polin RA, Abman SH, Rowitch D, Benitz WE. Fetal and Neonatal Physiology. Elsevier; 2016.
  • 5. Clark DC. Esophageal Atresia and Tracheoesophageal Fistula. Am Fam Physician. 1999; 59(4): pp. 910–916. url: http://www.aafp.org/afp/1999/0215/p910.html.
  • 6. Pretorius DH, Drose JA, Dennis MA, Manchester DK, Manco-johnson ML. Tracheoesophageal fistula in utero. Twenty-two cases. J Ultrasound Med. 1987; 6(9): pp. 509–513. pmid: 3312629.
  • 7. Zacharias J, Genc O, Goldstraw P. Congenital tracheoesophageal fistulas presenting in adults: presentation of two cases and a synopsis of the literature. J Thorac Cardiovasc Surg. 2004; 128(2): pp. 316–318. doi: 10.1016/j.jtcvs.2003.12.046.
  • 8. Spechler SJ. Achalasia: Pathogenesis, clinical manifestations, and diagnosis. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/achalasia-pathogenesis-clinical-manifestations-and-diagnosis. Last updated November 16, 2016. Accessed December 22, 2016.
  • 9. Serrao E, Santos A, Gaivao A, Tavares A, Ferreira S. Congenital esophageal stenosis: a rare case of dysphagia. J Radiol Case Rep. 2010; 4(6): pp. 8–14. doi: 10.3941/jrcr.v4i6.422.
  • 10. Jadcherla SR. Neonatal Oral Feeding Difficulties due to Sucking and Swallowing Disorders. In: Post TW, ed. UpToDate. Waltham, MA: UpToDate. https://www.uptodate.com/contents/sucking-and-swallowing-disorders-in-the-newborn. Last updated July 15, 2015. Accessed January 24, 2017.
last updated 12/10/2019
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