Heterotaxy syndrome is a disorder of sidedness. This means that the organs may not be on the correct sides of the body. For example, usually the liver is on the right side of the body, but in someone with heterotaxy syndrome, the liver could be in the middle or on the left.

There are many types of congenital heart defects that can be seen in patients with heterotaxy syndrome. Atrioventricular septal defects, double outlet right ventricles, anomalous pulmonary, and systemic venous return are all examples.

Patients with heterotaxy could have no spleen (asplenia), have multiple small spleens (poly splenia) or a normal spleen. Since the spleen helps to fight certain infections, it is important to know if it is working. The intestines of some patients with heterotaxy syndrome rotate incorrectly (malrotation). This can lead to bowel obstruction in some patients.

What causes heterotaxy syndrome?

In some patients with heterotaxy syndrome, we are able to identify a specific gene that causes the problem. Other patients may have a gene that causes heterotaxy syndrome, but not one that we have discovered.

We do not know of any exposures or diseases in parents that leads to heterotaxy syndrome in their child.

Heterotaxy Syndrome Evaluation and Diagnosis

Heterotaxy syndrome can be detected in many different ways, depending on which problems are associated. These include:

  • During pregnancy on a fetal ultrasound because the organs are on the wrong sides or there is a heart defect
  • When a heart murmur or low oxygen level indicates that there is a cardiac defect
  • Chronic infections from certain types of bacteria that lead us to look for spleen function
  • Bowel obstruction from malrotation
  • Others could have mild forms with normally functioning organs and never be detected

Before birth, a fetal ultrasound and echocardiogram should be done to evaluate the position of the organs and to look for heart defects. After birth, the heart, intestines and spleen should be evaluated.

Other tests include:

  • Echocardiogram - determines if there are congenital heart defects
  • Electrocardiogram - shows the electrical rhythm of the heart
  • Abdominal ultrasound - determines the position of the organs
  • Upper GI study - shows if the intestines rotated normally

Additional tests may be done to evaluate how well the spleen is functioning. A blood test will also be sent to evaluate for genetic abnormalities.

Treating Heterotaxy Syndrome

Treatment depends on the associated problems.

Patients with congenital heart defects may need heart surgery, but the type depends on the specific heart defect. Patients with malrotation may have surgery on their intestines to prevent bowel obstruction. If the spleen does not function normally, then daily antibiotics may be recommended to prevent serious bacterial infections.

Long-term Prognosis

The prognosis depends on what the associated problems are.

Those with complex congenital heart defects may need several open heart surgeries. People with abnormal spleen function are at risk for serious bacterial infections.

Because of all of the problems associated with heterotaxy syndrome, people with heterotaxy syndrome will likely see multiple specialists, some throughout their whole lives. Despite the many problems that go along with heterotaxy syndrome, most people with heterotaxy syndrome can live normal lives.

To make an appointment with a Children's Heart Program physician, please call 410-328-4348.

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