Heterotaxy Syndrome In A Middle-Aged Pakistani Male

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.