What is heterotaxy?

Heterotaxy is a rare condition where many organs in the body can be formed abnormally, in the wrong position, or even missing. Many children with heterotaxy have complex heart defects, which are often the most challenging problems associated with heterotaxy.  

In addition to the heart, the intestines, liver, spleen, and lungs can also be affected. Some children have a mild form of heterotaxy with only minor abnormalities of just one or two organs. Other children have very complex forms of heterotaxy involving multiple different organs. 

Common problems involved in heterotaxy

 Complex heart defects, often a combination of the following:

Heart rhythm problems:

  • slow heart rhythm (heart block)
  • fast heart rhythm (supraventricular tachycardia)
  • abnormal heart rhythm pathways (dual atrioventricular nodes)

Lung problems: 

  • structural problems in the lungs
  • abnormal cilia (ciliary dyskinesia), causing difficulty clearing mucous from the lungs

Immune problems:

  • having no spleen (asplenia) or many small spleens (polysplenia) that may not work properly
  • increased risk of infection 

Stomach and intestinal problems: 

  • abnormal twisting of the intestines (malrotation or nonrotation)
  • a liver that is in the wrong location 
  • bile system abnormalities (biliary atresia
  • abnormal liver blood flow (Abernathy syndrome)

How do we care for heterotaxy?

Boston Children’s Hospital has experts that regularly treat the entire range of issues found in children who have heterotaxy. The cardiologists and surgeons at Boston Children’s have extensive experience in the medical and surgical care of the most complex and challenging pediatric heart conditions associated with heterotaxy.    
Because of the many types of heart defects found in heterotaxy, each patient receives an individualized treatment plan. Your cardiologist will work closely with our highly specialized teams of cardiac imagers, heart rhythm specialists (electrophysiologists), cardiac catheterization specialists, and cardiac surgeons to create a treatment plan that works best for your child’s heart.  

We are often able to achieve “two-ventricle” (biventricular) repairs for children who were previously thought to require single-ventricle palliation. This includes many patients who have already had single-ventricle palliation procedures at other hospitals, such as a Glenn or Fontan surgery.