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Roya Huseynova, Latifa A. Bin Mahmoud, Eman AlJohani, Oqtay Huseynov, Adli Abdelrahim, Khalid A. AlOmran
(Department of Neonatology, King Saud Medical City, Riyadh, Saudi Arabia)
Am J Case Rep 2020; 21:e923341
Heterotaxy is a syndrome of abnormal arrangement of the internal thoracic-abdominal structures across the left-right axis of the body. It is a primary disorder with 2 main settings - bilateral left sidedness (polysplenia syndrome) or right sidedness (asplenia syndrome) - although some overlapping or uncertainties may occur. Patients with right heterotaxy typically present with asplenia, complex heart disease, and other thoracoabdominal organ situs abnormalities.
CASE REPORT: We present a unique case of congenital asplenia syndrome with complex heart disease, annular pancreas, and other extra-heterotaxic anomalies (e.g., musculoskeletal) in the form of a radius aplasia and partial syndactyly of the thumb and index finger of the left hand. These associated anomalies have not been reported before.
CONCLUSIONS: This case shows the need for paying increased attention to the implications of other extracardiac anomalies that can be associated with heterotaxy syndrome.