Official publication of Rawalpindi Medical University
Heterotaxy Syndrome In A Middle-Aged Pakistani Male

Supplementary Files

PDF

How to Cite

1.
Kanwal S, Din AT ud, Shafiq M, Kausar F, Din ATU. Heterotaxy Syndrome In A Middle-Aged Pakistani Male. JRMC [Internet]. 2023 Sep. 26 [cited 2024 May 29];27(3). Available from: https://journalrmc.com/index.php/JRMC/article/view/2019

Abstract

Background: Heterotaxy syndrome (or situs ambiguous) is an extremely rare disorder in which the viscera are arranged in an abnormally asymmetrical pattern around the midline along with cardiac and spleen abnormalities. The management of this disorder depends upon the extent and variability of the organ involvement and a multi-disciplinary approach is often required.

Case presentation: A middle-aged male presented in pulmonology OPD with with complaint of hemoptysis and shortness of breath for 3 weeks. He had a history of cyanotic spells since childhood. His HRCT chest revealed dextrocardia, generalized mild centrilobular emphysema of the lungs with fibrotic bands and mild cylindrical bronchiectasis and his echocardiography showed dextrocardia along with ventricular septal defect and pulmonary hypertension. He was found to have abnormally positioned abdominal viscera along with multiple spleens and he was diagnosed as a case of heterotaxy syndrome with left isomerism. His respiratory symptoms were treated conservatively and the patient was referred to the cardiology unit for management of cardiac defects.

Conclusion: This manuscript describes a case of heterotaxy syndrome which is a rare disorder with significant mortality and morbidity. The patient may present with vague symptoms. Early involvement of all the relevant specialities might help in a prompt diagnosis and timely management, which may improve the disease outcome.

https://doi.org/10.37939/jrmc.v27i3.2019

References

Sanders SP, Geva T. Classifying heterotaxy syndrome: time for a new approach. Circ Cardiovasc Imaging. 2018;11(2):e007490. Doi: 10.1161/CIRCIMAGING.118.007490

Yim D, Nagata H, Lam CZ, Grosse-Wortmann L, Seed M, Jaeggi E et al. Disharmonious patterns of heterotaxy and isomerism: how often are the classic patterns breached? Circ Cardiovasc Imaging. 2018;11(2):e006917. Doi: 10.1161/CIRCIMAGING.117.006917

Yadav P, Ajmera P, Krishnamurthy S, Nandivada NB. Heterotaxy Syndrome: Discordant Growth. Cureus. 2021;13(4) e14766. Doi: 10.7759/cureus.14766

Lin AE, Ticho BS, Houde K, Westgate MN, Holmes LB. Heterotaxy: associated conditions and hospital-based prevalence in newborns. Genet Med. 2000;2(3):157-72. Doi: 10.1097/00125817-200005000-00002

Qureshi AU, Kazmi U, Kazmi T, Sadiq M. Congenital heart defects associated with atrial heterotaxy. J Coll Physicians Surg Pak. 2012;22(9):549-52. URL: https://www.jcpsp.pk/archive/2012/Sep2012/02.pdf?origin=publication_detail

Kothari SS. Non-cardiac issues in patients with heterotaxy syndrome. Ann Pediatr Cardiol. 2014;7(3):187. Doi: 10.4103/0974-2069.140834

Ali M, Khan N, Shahid J, Shah SZ, Raees A. Heterotaxy polysplenia syndrome presenting with bleeding from the greater curvature of stomach: a case report. Egypt J Radiol Nucl Med. 2022;53(1):1-5. Doi: 10.1186/s43055-022-00813-0

Donnelly A. Left sided heterotaxy syndrome (polysplenia) | Radiology Case | Radiopaedia.org [Internet]. 2022 [cited 9 August 2022]. Available from: https://doi.org/10.53347/rID-89399

Creative Commons License

This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.

Copyright (c) 2023 Seema Kanwal, Ahsan Tameez ud Din, Mudassir Shafiq, Farzana Kausar, Asim Tameez Ud Din