Heterotaxy Syndrome Symptoms & Causes

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At Boston Children's Hospital, we understand that you may have questions when your child is diagnosed with heterotaxy syndrome or when you need follow-up appointments.

  • What is heterotaxy syndrome?
  • What are the causes of heterotaxy syndrome?
  • What are the symptoms?
  • How is it diagnosed?
  • What are the treatments?
  • What are the long-term effects?

What is heterotaxy syndrome?

A rare birth defect, heterotaxy syndrome is a condition in which there is a developmental problem so that organs that are normally on the right or left side of the body are in abnormal places (“sidedness”).  Heterotaxy syndrome can affect the heart and lungs, and the organs in the abdomen, such as the stomach, intestines, liver and lungs. With some heterotaxy patients the apex of the heart is pointed toward the right side of the chest (dextrocardia) instead of toward the left. The heart may have either one or two pumping chambers (ventricles) and there may also be problems with how blood reaches the lungs or the body from the heart or problems with blood returning to the heart.

There are two main forms of heterotaxy syndrome as described below.  Although there is significant overlap in the types of heart defects that can occur with both types of heterotaxy syndrome, some common associations are listed below.

  • Asplenia: Patients can have holes in the walls that divide the right and left sides of the heart, problems involving the valve and connections that carry blood from the heart to the lungs, and problems involving the valves that connect the upper and lower chambers of the heart. In many cases there may only be one pumping chamber (ventricle) that must supply blood to both the body and the lungs. In addition, patients with asplenia generally do not have a spleen. Organs, such as the liver, might be on the wrong side of the body.
  • Polysplenia: With polysplenia, there are multiple small spleens rather than a single spleen, although these spleens may not be functional Patients can have problems involving the heart valves between the upper and lower chambers of the heart, or problems with the valves and connections between the pumping chambers (ventricles) and the arteries that arise from the heart (such as transposition or double outlet right ventricle). There may also be heart rhythm problems, such as complete heart block in which the upper and lower chambers of the heart are electrically disconnected and do not work together in a coordinated fashion. Although patients with polysplenia are more likely to have two pumping chambers with holes in the walls separating them, some patients do have only one pumping chamber. 

Patients with heterotaxy may require multiple surgeries to either fix defects or to redirect blood flow when defects cannot be fixed. All procedures require life-long follow-up with a cardiologist.

What are the causes of heterotaxy syndrome?

It is not clear what causes heterotaxy syndrome. Some research suggests that genetics, infections or exposure to certain chemicals may be factors.

What are the symptoms of heterotaxy syndrome?

Symptoms of heterotaxy are usually apparent right after birth. They include blue skin, usually on the lips and under the fingernails, indicating low oxygen levels, or difficulty breathing (heart failure) because of extra blood flow to the lungs. Other symptoms point to problems with the stomach, intestines, liver and lungs, including poor weight gain or rapid breathing. When babies have trouble dealing with infections, lack of a functioning spleen may be the problem.

How is heterotaxy syndrome diagnosed?

Chest X-rays, echocardiogram (ultrasound study of the heart) and abdominal imaging may be used to diagnose heterotaxy syndrome.

For babies not yet born (in utero), fetal echocardiograms may detect the condition prior to birth. Abdominal imaging and chest X-rays can also reveal the condition. 

See "Tests" for more details.

What are the treatments for heterotaxy syndrome?

Surgery may be required to correct the abnormalities of the heart or other organs. The nature of the procedure (or procedures) depends on the patient’s individual problems. Medications may also be required so patients can protect against heart failure. If the patient has no spleen or has a spleen that is not functioning properly, antibiotics and vaccinations are needed to guard against infection. 

See "Treatments and Care" for details.

What are the long-term effects of heterotaxy syndrome?

If few organs are involved, and particularly if the heart disease is mild, patients can live fairly normal lives after surgery. However, most patients with heterotaxy syndrome patients face significant challenges as they move through life, and regular follow-up with a cardiologist and potentially with other specialists is essential. Many patients will be on medications for their lifetime and some may need procedures well into adulthood or later.

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