Dorsal pancreas agenesis and polysplenia/heterotaxy syndrome: a novel association with aortic coarctation and a review of the literature

Abstract

Context: Agenesis of the dorsal pancreas is very rare and may be associated with other congenital disease states. It has a rare association with polysplenia/heterotaxy syndrome. Most commonly, these states occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac malformations.

Case report: We report a case of a 25-year-old male with known coarctation of the aorta who was otherwise asymptomatic. Following a routine cardiac examination, he was incidentally discovered to have an absent body and tail of the pancreas on imaging. Further testing demonstrated findings consistent with a diagnosis of polysplenia/heterotaxy syndrome with agenesis of the dorsal pancreas.

Conclusions: In patients with congenital heart disease, there is increased likelihood for the presence of other congenital malformations. In particular, polysplenia/heterotaxy syndrome, while very rare, has been shown to be associated with cardiac abnormalities. The importance in diagnosis lies in the potential clinical consequences of polysplenia/heterotaxy syndrome and agenesis of the dorsal pancreas, including late-onset diabetes mellitus, pancreatitis, and intestinal volvulus.