Tracheoesophageal Fistula & Esophageal Atresia

By Shirley Mo, MD (’24)

 

Tracheoesophageal fistulas (TEFs) and esophageal atresia (EA) represent one of the most common congenital anomalies of the respiratory tract, with an incidence in approximately 1 in 3500 births.

 

 Embryology:

The trachea and esophagus develop from a common primitive foregut. Approximately at 4 weeks of gestation, the developing respiratory and gastrointestinal tracts are separated by epithelial ridges. TEF and EA are hypothesized to be caused by a defect in the lateral septation of the foregut.

 

 Classification:

TEF typically occurs with esophageal atresia (EA). Type C, which consists of a proximal esophageal pouch and a distal TEF, accounts for 84% of cases. TEF occurs without EA (H-type fistula) in approximately 4%.

 TEFs most commonly occur alongside other congenital anomalies, often as part of VACTERL association (vertebral defects, anal atresia, cardiac defects, TEF, renal anomalies, and limb abnormalities).

TEF

 

 Clinical Features:

Infants with EA become symptomatic immediately after birth, with drooling, choking, respiratory distress, and inability to feed. A fistula between the trachea and esophagus leads to gastric distension and risk for aspiration pneumonia. Patients with H-type TEF (without EA) may be asymptomatic in newborn period and have a delayed presentation.

 

Diagnosis:

The diagnosis of EA can be made when a catheter cannot be passed further than approximately 10 to 15cm into the stomach. The diagnosis of H-type TEF can be made with an upper gastrointestinal series using water-soluble contrast. Given the association with other anomalies, an echocardiogram and renal ultrasonography should also be performed.

 

Management:

Treatment of TEF/EA consists of primary anastomosis of the esophageal segments with fistula ligation for the separation of the trachea and esophagus. If the distance between esophageal segments is large, the repair can be delayed to allow for esophageal growth.

 

Outcomes:

The prognosis for isolated TEF is generally good. In a multicenter analysis including 3,000 North American infants with TEF/EA, increased mortality and prolonged hospital length of stay were associated with lower birthweight and the presence of other congenital anomalies.

 

Long-term management is needed to address gastrointestinal and pulmonology abnormalities. Complication includes feeding difficulties, anastomotic leak, esophageal stricture requiring endoscopic balloon dilation, and GI dysmotility, and respiratory symptoms.

 

Sources:

Cassina, M., Ruol, M., Pertile, R., Midrio, P., Piffer, S., Vicenzi, V., Saugo, M., Stocco, C. F., Gamba, P., & Clementi, M. (2016). Prevalence, characteristics, and survival of children with esophageal atresia: A 32‐year population‐based study including 1,417,724 consecutive newborns. Birth Defects Research Part A: Clinical and Molecular Teratology, 106(7), 542–548. https://doi.org/10.1002/bdra.23493.

Photo from: Fareed, Dr. G. (2022, December 2). What are Atresia and transesophageal fistula?. What Are Atresia and Transesophageal Fistula? https://www.icliniq.com/articles/gastro/health/atresia-and-transesophageal-fistula.

Gregory KeefeKatherine CulbreathErika M. EdwardsKate A. MorrowRoger F. SollBirenP. ModiJeffrey D. HorbarTom Jaksic; Current Outcomes of Infants with Esophageal Atresia and Tracheoesophageal Fistula: A Multicenter Analysis. Pediatrics February 2022; 149 (1 Meeting Abstracts February 2022): 860.

 

Karnak, İ., Şenocak, M. E., Hiçsönmez, A., & Büyükpamukçu, N. (1997). The diagnosis and treatment of H-type tracheoesophageal fistula. Journal of Pediatric Surgery, 32(12), 1670–1674. https://doi.org/10.1016/s0022-3468(97)90503-0.