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


METHODS
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.
Kapa
Suraj
S
Division of Internal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.
Gleeson
Ferga C
FC
Vege
Santhi Swaroop
SS
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging; D000328:Adult; D001017:Aortic Coarctation / Q000175:diagnosis* / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D010179:Pancreas / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011859:Radiography; D013154:Spleen / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013577:Syndrome