Tracheoesophageal Fistula and Esophageal Atresia
- 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).
- 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)
- 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.
- No specific genetic cause of EA-TEF has been established.
- Twin concordance is only 2.5%.
- 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.
- 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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