Angiography, CT and MR imaging of a high vena cava inferior interruption in a patient with Hirschsprung disease.

We report on a high vena cava inferior interruption immediately at the insertion to the right atrium in a patient with Hirschsprung disease assessed by angiography, CT, and MRI. Hirschsprung disease is frequently associated with Down, Undine, Waardenburg, Bardet-Biedl, Smith-Lemli-Opitz and Goldberg-Sphrintzen syndromes. We suggest that the association of these two malformations are most likely interrelated and should be considered as a new syndrome.