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

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.