Acute appendicitis in a patient with heterotaxy syndrome

Abstract

Heterotaxy syndrome, also known as situs ambiguous, is a congenital condition that results in an abnormal distribution of visceral organs in the chest and abdomen. Heterotaxy syndrome has generally been categorized into two forms: a left-atrial isomerism form with a polysplenic association and a right-atrial isomerism form with an asplenic association. The polysplenic form has a high degree of co-occurrence (80%–90%) with fatal and non-fatal cardiac abnormalities. Of patients afflicted with the polysplenic form of heterotaxy syndrome, only 10% reach adulthood without complications. However, situs anomalies can cause a confusing clinical picture for the physician when the patient's pain does not correlate with the expected location due to organ dislocation. The differential diagnosis can prove to be unclear, incorrect, and unfitting when the physician does not know that certain organs are situated in abnormal locations. We present a case of a young male that was unaware of his heterotaxy syndrome. He presented with atypical signs of appendicitis secondary to an abnormal position of his appendix. Incidentally, his rare and fairly unheard of condition, heterotaxy syndrome, was only discovered because he was afflicted with a well-known and common condition, appendicitis. Keywords: Heterotaxy syndrome, Situs ambiguous, Appendicitis