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03 June 2020 : Case report  Saudi Arabia

Rare Extracardiac Anomalies Presented with Right Heterotaxy Syndrome in a Newborn Baby: A Case Report

Unusual clinical course, Challenging differential diagnosis, Management of emergency care, Educational Purpose (only if useful for a systematic review or synthesis)

Roya Huseynova1ABEFG*, Latifa A. Bin Mahmoud1AEG, Eman AlJohani1AEFG, Oqtay Huseynov2AEF, Adli Abdelrahim1AEF, Khalid A. AlOmran3AEFG

DOI: 10.12659/AJCR.923341

Am J Case Rep 2020; 21:e923341

Abstract

BACKGROUND: 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.

Keywords: heterotaxy syndrome, Infant, Newborn, Isomerism, Heart Defects, Congenital, Intensive Care Units, Limb Deformities, Congenital, Pancreas, Pancreatic Diseases, Spleen

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923