Ochsner J. 2024 Winter;24(4):288-297. doi: 10.31486/toj.24.0021.
ABSTRACT
Background: 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. Case Report: 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. Conclusion: 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.
PMID:39720824 | PMC:PMC11666107 | DOI:10.31486/toj.24.0021
