Abstract

Muhzina Rahim*, Riya Varghese, Dr. Geethu Rachel Iype and Dr. Sujith Philip

ABSTRACT

Heterotaxy syndrome, also known as situs ambiguous, encompasses a group of developmental abnormalities stemming from an aberrant arrangement of thoracoabdominal organs, disrupting their typical position.[1] The etiology is multifactorial, with genetics playing a major role in its presentation.[2] Identification of the syndrome is often incidental when the patient is evaluated for other diseases. The diagnosis of this group of anomalies relies on identifying multiple malformations and malpositions, often visualized through radiological imaging techniques like ultrasound, computed tomography (CT), or magnetic resonance imaging (MRI). In patients with heterotaxy, the diagnosis and treatment of various commonly acquired illnesses is complicated by abnormal anatomical positioning of the visceral organs. It sometimes leads to delayed or wrong diagnosis, which further hinders timely treatment. Further, the underlying congenital anomalies in various organs complicate the management of even simple conditions. In this case, we look at the multiple challenges we faced as a treating team in accurately diagnosing and treating a patient who presented to the emergency department and was later detected to have heterotaxy.