Tracheoesophageal Fistula and Esophageal Atresia

Basics

Description

  • Esophageal atresia with tracheoesophageal fistula (EA-TEF) is a congenital condition of incomplete formation of the esophagus. In most cases, the atretic (blind-ending) esophagus has an aberrant fistula to the trachea (TEF).
  • Five types are described:
    • EA with distal TEF is the most common (Gross type C, 85%).
    • Pure EA without TEF occurs in 10% (Gross type A).
    • EA with proximal TEF and EA with both distal and proximal TEFs are quite rare (1% each, gross types B and D).
    • Pure TEF without EA occurs in 3–4% (“H type fistula”, Gross type E).

Epidemiology

  • The prevalence of EA-TEF is 1 in 2,500–4,000 live births. This appears to be consistent worldwide.
  • Slight male predominance (1.2:1)

Risk Factors

  • Many maternal exposures have been postulated to contribute, but none are well established.
    • Maternal diabetes (nongestational) during 1st trimester, older age, maternal diethylstilbestrol (DES) exposure, horticultural work, alcohol, and smoking have all been implicated.

Genetics

  • No specific genetic cause of EA-TEF has been established.
  • Twin concordance is only 2.5%.

Etiology

  • The foregut diverticulum separates into the trachea and esophagus at approximately 4–5 weeks of gestation.
  • In EA-TEF, it is postulated that the lateral folds that fuse to separate the trachea and esophagus fail to form. Disruption of signalling in the Wnt and Bmp pathways has been implicated in this chain of development. This theory remains controversial, and the exact nature of the defect is unresolved.

Commonly Associated Conditions

  • EA-TEF is associated with the VACTERL (vertebral defects, anal atresia, cardiac defects, TEF, radial or renal anomalies, and limb anomalies) sequence of congenital anomalies (10–25% of EA-TEF infants).
  • Can be found in association with trisomies 13, 18, and 21 as well as CHARGE (coloboma, heart disease, choanal atresia, retarded growth, genital hypoplasia, and ear anomalies with deafness) syndrome, Feingold syndrome, DiGeorge syndrome, and others

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