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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 Huseynova, Latifa A. Bin Mahmoud, Eman AlJohani, Oqtay Huseynov, Adli Abdelrahim, Khalid A. AlOmran

Saudi Arabia Department of Neonatology, King Saud Medical City, Riyadh, Saudi Arabia

Am J Case Rep 2020; 21:e923341

DOI: 10.12659/AJCR.923341

Available online: 2020-05-08

Published: 2020-06-03


#923341

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



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