heterotaxy syndrome
Pronunciation: het-er-oh-TAK-see
Congenital condition involving abnormal arrangement of thoracic and abdominal organs, often associated with complex cardiac malformations.
Full Definition
Heterotaxy syndrome, also known as situs ambiguus, is a rare congenital condition characterized by the abnormal arrangement of organs across the left-right axis of the body. The condition is typically classified as right atrial isomerism (asplenia syndrome) or left atrial isomerism (polysplenia syndrome). Patients frequently present with complex congenital heart disease, including total anomalous pulmonary venous return, common atrioventricular canal defects, and various forms of single ventricle physiology. Associated extracardiac abnormalities may include intestinal malrotation, biliary atresia, and abnormal spleen development. The cardiac complexity often requires multiple staged surgical interventions and lifelong cardiology follow-up.
Usage
Usage note: Specify subtype (right or left atrial isomerism) when known; avoid confusion with simple dextrocardia.
In Context
- "The newborn was diagnosed with heterotaxy syndrome and complex congenital heart disease." — Discharge summary
- "Heterotaxy syndrome with right atrial isomerism was identified on fetal echocardiogram." — Prenatal consultation note