Heterotaxy Syndrome

  • Etiology: congenital
  • Asplenia:
    — Imaging: bilateral right sidedness with bilateral eparterial bronchus (bronchus is posterio-superior to pulmonary artery) and bilateral trilobed lungs
    — Clinical: severe cyanosis, severe congenital heart disease, susceptible to infection
  • Polysplenia:
    — Imaging: bilateral left sidedness with bilateral hyparterial bronchus (bronchus is anterio-inferior to pulmonary artery) and bilateral bilobed lungs
    — Clinical: less congenital heart disease, presents later, associated with biliary atresia

Cases of Heterotaxy Syndrome

Upper GI of malrotation without midgut volvulus in heterotaxy
AP image from an upper GI shows the ligament of Treitz to be in the right upper quadrant. There is no evidence of duodenal obstruction. The proximal jejunum is also in the right upper quadrant. There is also gastroesophageal reflux.
CXR of heterotaxy syndrome and upper GI of malrotation without midgut volvulus
CXR AP (above) shows the cardiac apex to be in the right hemithorax and the gastric bubble to be in the left upper quadrant. AP image from an upper GI (below) shows the ligament of Treitz to be in the right upper quadrant. There is no evidence of duodenal obstruction. The proximal jejunum is also in the right upper quadrant.