Abnormalities of Intestinal Rotation in Patients with Congenital Heart Disease and the Heterotaxy Syndrome

Abstract

Abnormalities of intestinal rotation (AIR) are seen in association with congenital heart disease and heterotaxy syndrome. The prevalence of these abnormalities and recommendations for management are unclear. Our objective was to determine the prevalence of screening for AIR by elective imaging among our group and prophylactic vs. emergent surgical intervention for AIR in patients with congenital heart disease and heterotaxy syndrome. From October 1988 through October 2000, we identified 74 patients with congenital heart disease and heterotaxy syndrome, 44 (59%) asplenia, 30 (41%) polysplenia. Abdominal imaging was performed in 34 patients (45%). Twenty-four (32%) were found to have AIR. Of 34 patients imaged, 22 (65%) were found to have AIR. Two patients not imaged were found to have AIR: one at autopsy, and the other, incidentally during other abdominal surgery. Because imaging was performed based on individual cardiologist's practice style that did not change over the period of the study and rarely secondary to symptoms, it is likely that the prevalence of AIR in the patients that were not electively imaged would be similar. There was no statistical difference in the presence of AIR between asplenic (34%[15/44]) and polysplenic (30%[9/30]) patients. Of the 22 patients imaged with AIR, 18 underwent Ladd procedure. Five of 12 imaged patients without AIR were found to have other significant gastrointestinal pathologies requiring intervention including gastrostomy tube placement for reflux (3), duodenal web (1), and biliary atresia (1). Of the 40 patients who were not pre-emptively imaged, none suffered acute obstruction solely secondary to AIR. However, in 2 patients intestinal obstruction was suspected and subsequently discovered by imaging and/or laparotomy due to other intestinal anomalies. AIR is common among patients with heterotaxy syndrome and congenital heart disease. We recommend that patients with congenital heart disease and heterotaxy syndrome have routine elective abdominal imaging of their gastrointestinal tract at birth as part of their evaluation.