Tracheoesophageal Malformations

1

What are tracheoesophageal fistula and esophageal atresia?

The pathogenesis for the development of esophageal atresia, with and without fistula, is still unknown. Theories include imperfect separation of the tracheoesophageal septum or defective pharyngeal arch development. More than 50% of cases of esophageal atresia with tracheoesophageal atresia are associated with other anomalies; 10% are found in specific chromosomal or single gene disorders.

2

Describe the three most common anatomic patterns of tracheoesophageal disorders and their relative incidence

The overall incidence of esophageal atresia, with or without tracheoesophageal fistula, is 1:3500 live-born infants.

• Proximal esophageal atresia with distal tracheoesophageal fistula: 85% (type C, proximal pouch with distal fistula)

• Pure esophageal atresia: 10% (type A)

• Tracheoesophageal fistula without atresia: 5% (type E, H fistula)

3

What are the other common anomalies that occur with tracheoesophageal malformations?

Tracheoesophageal fistula and esophageal atresia occur as early disturbances in organogenesis during weeks 3–8 of development. Approximately 70% of affected infants have at least one associated congenital malformation. The most common anomalies include cardiovascular (35%), genitourinary (25%), gastrointestinal (25%), musculoskeletal (15%), and central nervous system (7%). The incidence of VACTERL association, which incudes vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb anomalies, in the esophageal atresia population is 20%.

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