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 to 4,000 live births. This frequency 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 first 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 by 5th week of gestation, thus, factors leading to EA-TEF are present prior to week 5.
  • 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.

ASSOCIATED-CONDITIONS

  • Up to 50% are associated with another anomaly.
  • Congenital heart disease is most common (found in 27% of EA-TEF babies).
  • VACTERL (vertebral defects, anal atresia, cardiac defects, TEF, radial or renal anomalies, and limb anomalies )
    • EA-TEF is associated with the VACTERL sequence of congenital anomalies.
    • 10–25% of EA-TEF infants
  • Trisomy 13
  • Trisomy 18
  • Trisomy 21
  • CHARGE (coloboma, heart disease, choanal atresia, retarded growth, genital hypoplasia, and ear anomalies with deafness) syndrome
  • Feingold syndrome
  • DiGeorge syndrome

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