Heterotaxy Syndrome Diagnosed in an Adult.

Heterotaxy syndrome, a condition in which the internal organs are abnormally arranged in the thorax or abdomen, is generally diagnosed early in life, often during the neonatal period. We present the case of a 42-year-old male who was incidentally diagnosed with polysplenia syndrome and subsequently diagnosed with heterotaxy syndrome. Upon further investigation, he was determined to have a sinus venosus type atrial septal defect. Furthermore, the patient's inferior vena cava was interrupted in the infrarenal region and continued as the azygos vein with a coincidental retroaortic left renal vein, an anatomic variation unrelated to heterotaxy syndrome. Because of his minimal cardiac anomalies, the patient remained undiagnosed until adulthood. According to our research, this case is the first report of a patient with heterotaxy syndrome and a sinus venosus type atrial septal defect. This case augments the available information about the variations of this rare syndrome.