- Etiology: congenital
- Left atrial isomerism / polysplenia
— Cardiac abnormalities (less severe) – aortic stenosis, atrial septal defect / ventricular septal defect
— Vascular abnormalities – bilateral atrial connection of pulmonary veins, inferior vena cava interruption
— Pulmonary abnormalities – bilateral hyparterial bronchus (bronchus is anterio-inferior to pulmonary artery) and bilateral bilobed lungs
— Gastrointestinal abnormalities – polysplenia, midline liver, stomach on either side, bowel rotation, biliary atresia
— Clinical: less severe congenital heart disease, presents later, associated with biliary atresia - Right atrial isomerism / asplenia
— Cardiac abnormalities (severe) – common AV canal, double inlet left ventricle / double outlet right ventricle, absent coronary sinus
— Vascular abnormalities – totally anomalous pulmonary venous return – always present – 50% extracardiac, discordant ventriculoarterial connections, pulmonary atresia / stenosis, normal inferior vena cava
— Pulmonary abnormalities – bilateral eparterial bronchus (bronchus is posterio-superior to pulmonary artery) and bilateral trilobed lungs
— Gastrointestinal abnormalities – asplenia, midline / right side liver, abnormal bowel rotation in 70%
— Clinical: severe cyanosis, severe congenital heart disease, susceptible to infection
Radiology Cases of Heterotaxy Syndrome
Radiology Cases of Heterotaxy Syndrome – Malrotation

