Esophageal atresia and malrotation: what association?

Esophageal atresia/tracheo-esophageal fistula (EA/TEF) has an incidence of approximately 1:3,500. The incidence of malrotation is thought to be 1:200-500. We attempted to define the incidence of a combination and discuss the implications.

This was a retrospective review of all patients admitted to a single institution with a diagnosis of EA or EA/TEF or TEF between April 1981 and January 2013. Patients were included if the position of the duodeno-jejunal flexure (DJF) was determined by upper GI contrast study (UGIS), surgery or post-mortem.

Case notes were reviewed for 235 patients. In the EA type A group, 3/28 (11 %; 95 % CI 3.7-27.2 %) had malrotation, significantly higher than the reported incidence of malrotation in the general population (p = 0.0008). All three patients in this group were symptomatic with one patient found to have a volvulus at emergency surgery. In the type C group, 6/196 (3 %, 95 % CI 1.4-6.5 %) had malrotation, significantly higher than the incidence reported for the general population (p = 0.0033) but not significantly different to that of the type A group (p = 0.0878). There were no patients with malrotation identified in any other EA/TEF type. In total, 9/235 (3.8 %; 95 % CI 2.0-7.2 %) patients with EA had malrotation, significantly higher than the 5/1,050 (0.48 %) reported for the general population (p = 0.0002).

There is a high incidence of malrotation in patients with pure EA. In the type A group an attempt to identify the DJF position at gastrostomy siting and/or performance of UGIS in the neonatal period should be undertaken. There should also be a low threshold for UGIS in all EA/TEF patients.