Heterotaxy syndrome with complex single-ventricle physiology and left-sided Bochdalek hernia: Multisystem characterization by cardiothoracic CT

Abstract

Heterotaxy syndrome comprises a spectrum of laterality defects frequently associated with complex congenital heart disease and extracardiac anomalies. We report a 2-year-old male who presented with persistent cyanosis, recurrent respiratory infections, and failure to thrive. Cardiac computed tomography demonstrated ambiguous situs with dextrocardia, reversed atrial arrangement, L-looped ventricles, large atrial and ventricular septal defects, hypoplastic right ventricle, absent right ventricular outflow tract, and double-outlet left ventricle. Additional findings included polysplenia, right-sided aortic arch with mirror branching, aortopulmonary collaterals, and a left posterolateral Bochdalek hernia. This case highlights the value of comprehensive cross-sectional imaging in defining complex heterotaxy anatomy and underscores the clinical implications of associated extracardiac anomalies in surgical planning and prognosis.