Intestinal rotation and fixation abnormalities in heterotaxia: early detection and management

Intestinal rotation and fixation abnormalities (IRFA) are known to coexist with heterotaxia (defined as an abnormal arrangement of body organs that is different from complete situs solitus or complete situs inversus), but little is known about the incidence of this association or its clinical management. We have reviewed the records of 34 patients diagnosed with heterotaxia during a 12-year period at Yale-New Haven Hospital in order to develop a plan for the early diagnosis of IRFA and to assess the value of preventive treatment in this complicated group of patients. Of the 34 patients with heterotaxia, all except one presented with complex congenital heart disease. The 34 patients were divided into two groups on the basis of their gastrointestinal workup for suspected IRFA. The 28 patients in group A had no upper gastrointestinal (GI) contrast study performed prior to symptoms suggestive of IRFA. Four of these 28 patients (14%) eventually developed complications of IRFA requiring emergency surgery. Group B consisted of six patients seen during the past 5 years with heterotaxia who had upper GI contrast studies while asymptomatic. All six (100%) were shown to have IRFA and subsequently underwent an uncomplicated elective Ladd procedure once their cardiac condition stabilized. This study confirms the high incidence of IRFA in patients with heterotaxia. We propose that evaluating patients with heterotaxia syndrome for IRFA while asymptomatic may prevent the need for emergency abdominal surgery in patients that have major cardiovascular anomalies.