Congenital Anomalies

Esophageal Atresia and Tracheoesophageal Fistula

Seema Khan

Sravan Kumar Reddy Matta

Esophageal atresia (EA) is the most common congenital anomaly of the esophagus, with a prevalence of 1.7 per 10,000 live births. Of these, >90% have an associated tracheoesophageal fistula (TEF). In the most common form of EA, the upper esophagus ends in a blind pouch and the TEF is connected to the distal esophagus (type A). Fig. 345.1 shows the types of EA and TEF and their relative frequencies. The exact cause is still unknown; associated features include advanced maternal age, European ethnicity, obesity, low socioeconomic status, and tobacco smoking. This defect has survival rates of >90%, owing largely to improved neonatal intensive care, earlier recognition, and appropriate intervention. Infants weighing <1,500 g at birth and those with severe associated cardiac anomalies have the highest risk for mortality. Fifty percent of infants are nonsyndromic without other anomalies, and the rest have associated anomalies, most often associated with the vertebral, anorectal, (cardiac), tracheal, esophageal, renal, radial, (limb) (VACTERL) syndrome. Cardiac and vertebral anomalies are seen in 32% and 24%, respectively. VACTERL is generally associated with normal intelligence. Despite low concordance among twins and the low incidence of familial cases, genetic factors have a role in the pathogenesis of TEF in some patients as suggested by discrete mutations in syndromic cases: Feingold syndrome (N-MYC), CHARGE syndrome ( c oloboma of the eye; c entral nervous system anomalies; h eart defects; a tresia of the choanae; r etardation of growth and/or development; g enital and/or urinary defects [hypogonadism]; e ar anomalies and/or deafness) (CHD7), and anophthalmia-esophageal-genital syndrome (SOX2).