A Rare Case of Heterotaxy Syndrome: Eisenmenger Syndrome with Dextrocardia in an Adult

Abstract

Aims: Heterotaxy syndrome is a rare, complex, and confusing presentation in the realm of situs anomalies. The concurrence of heterotaxy syndrome with dextrocardia and Eisenmenger syndrome has never been reported in an adult. We described, for the first time, an adult patient who had heterotaxy syndrome with dextrocardia, complicated by Eisenmenger syndrome with large ventricular septal defect (VSD). Presentation of Case: A 43 year-old female presented to the emergency room with worsening exertional dyspnea. She carried past medical history of cyanotic congenital heart disease since birth. Her physical examination findings were significant for hypoxia and clubbing with cyanotic fingers and toes, dextrocardia, and a 3/6-holosystolic murmur over the right lower sternal border. Laboratory investigation showed polycythemia andher chest x-ray showed dextrocardia. Echocardiography showed dextrocardia with a dilated left ventricle and a large VSD with left-to-right shunting. Computed tomography (CT) angiogram of the chest showed bilateral bi-lobed lungs with both main stem hyparterial bronchi, right-sided polysplenia, right-sided stomach with left-sided dominant liver. Discussion and Conclusion: Heterotaxy syndrome has a complex variation in clinic presentation. We illustrate the occurrence of heterotaxy syndrome, polysplenia type with Eisenmenger syndrome and dextrocardia. Recognition of this rare anomaly is important for establishing a diagnosis in a patient with multiple organ displacement.