Magnetic resonance imaging of heterotaxis syndrome

Failure to establish normal left-right body axis (LRA) formation during embryogenesis results in heterotaxis, a multi-malformation syndrome. We report on a 20-year-old young woman who presented to the emergency room with upper abdominal pain. On chest X-ray, dextrocardia was noted. Ultrasound was inconclusive. Barium studies demonstrated non-rotation of the intestine. Magnetic resonance imaging (MRI) of the abdomen confirmed heterotaxis with abnormal arrangement of abdominal organs and vasculature. This is the first radiographic description of LRA in MRI. It provides a unique contribution to the wide morphological variety of lateralization defects in a single examination within 15 min and without the risks of ionizing radiation. In addition, a literature overview over the genetic aspects, broad morphological spectrum, and possible therapeutic consequences is given.