Heterotaxy polysplenia syndrome in an adult female with complete endocardial cushion defect

Habib Ahmad Esmat; Mohammad Wali Naseri; Asadullah Shirzai

doi:10.1016/j.radcr.2021.02.015

Heterotaxy polysplenia syndrome in an adult female with complete endocardial cushion defect

Radiol Case Rep. 2021 Feb 24;16(5):1080-1084. doi: 10.1016/j.radcr.2021.02.015. eCollection 2021 May.

Authors

Habib Ahmad Esmat¹, Mohammad Wali Naseri², Asadullah Shirzai¹

Affiliations

¹ Department of Radiology, Kabul University of Medical Sciences, Kabul, Afghanistan.
² Department of Internal Medicine, Division of Endocrinology, Metabolism, and Diabetes, Kabul University of Medical Sciences, Kabul, Afghanistan.

Abstract

Heterotaxy syndrome is a rare condition characterized by the abnormal arrangement of thoracoabdominal organs across the left-right axis of the body. It is generally classified as right and left atrial isomerism or asplenia and polysplenia syndrome, even though there are overlaps and uncertainties. The diagnosis of isomerism is typically made by echocardiography. However, multidetector computed tomography and MRI can help in obtaining detailed data on the morphology of the heart, great vessels, the anatomy of the internal organs, and their mutual arrangement that make an accurate diagnosis of heterotaxy syndrome. The authors present here the imaging findings of the heterotaxy polysplenia syndrome in a 21-year-old female with a complete endocardia cushion defect and a duplicated right renal vein.

Keywords: CHD, congenital heart disease; HS, heterotaxy syndrome; Heterotaxy syndrome; Isomerism; MDCT, multidetector computed tomography; Polysplenia.

Publication types

Case Reports