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.  

From California to Boston for a bi-ventricular repair 

Elyse's parents were told that their daughter, who has heterotaxy, was not a candidate for a bi-ventricular repair. Not taking no for an answer, her parents reached out to Boston Children's Hospital for help.

Dr. Emani and Elyse at a conference.

Our areas of innovation for heterotaxy 

Boston Children’s has a long-standing commitment to — and experience with — heterotaxy. With so many team members focused specifically on children with heterotaxy, we have developed real solutions for children born with these challenging heart defects. 

Some of the areas of innovation in heterotaxy include: 

  • biventricular repairs for children with complex heart defects, many of whom may not be candidates for this option at other heart centers 
  • advanced cardiac imaging, like 3-D echocardiography, cardiac magnetic resonance imaging (MRI), cardiac computed tomography (CT), and cardiac catheterization 
  • 4-D flow modeling, where our cardiologists and surgeons create computer models of different surgical approaches to decide on the best procedure for your child
  • a dedicated heterotaxy team, which includes a group of providers from different specialties who have a special interest and expertise in treating children with heterotaxy

What are the symptoms of heterotaxy ?

The symptoms of heterotaxy vary depending on the complexity of heart disease involved and any other organ systems involved.  

Heart symptoms may include: 

  • cyanosis  ( blue skin, usually on the lips and under the fingernails)
  • labored or fast breathing 
  • abnormally slow or fast heart rate 
  • difficulty feeding 
  • poor weight gain

Stomach and intestinal symptoms may include: 

  • difficulty feeding
  • frequent vomiting
  • bilious (green) vomiting

Spleen and immune symptoms may include:

  • frequent infections

Lung symptoms may include: 

  • frequent infections
  • difficulty clearing mucous from the lungs

What are the causes of heterotaxy ?

The causes of heterotaxy are not completely understood, but our doctors are working every day to better understand this complex problem. Changes in the genetic makeup of an individual (mutations) are most likely responsible for heterotaxy. These mutations may be passed down (inherited) from a parent, or sometimes they are new mutations in an individual. We work closely with our cardiac geneticist to help identify whether a specific gene is responsible for your child’s heterotaxy. This information can be very helpful with families who want a better understanding of where the heterotaxy came from and what it means for the rest of the family.  

How is heterotaxy diagnosed?

Heterotaxy is diagnosed in a number of different ways. It is often diagnosed before birth, when an ultrasound identifies an abnormal position of one or more organs. Sometimes, heterotaxy is diagnosed with a fetal echocardiogram (a special ultrasound of the heart before birth) when a complex heart defect is identified. During infancy or childhood, heterotaxy may be diagnosed if your child has feeding problems, breathing problems, cyanosis (blue color), a heart rhythm abnormality, or if a pediatrician hears a heart murmur.  

After heterotaxy is diagnosed, your doctor may use the following tests to get a complete picture of your child’s heart and anatomy.  

Heart tests: 

Other tests

  • lung (cilia function) tests
  • spleen scan
  • abdominal/liver ultrasound 

What are the treatment options for heterotaxy ?

Heterotaxy can be very complex, and every child’s needs are different. Boston Children’s takes a comprehensive approach to treating children with heterotaxy, screening for and identifying and potential problems associated with heterotaxy. For those with complex heart problems, the treatment approach is individualized based on the unique form of heart disease affecting your child. We take on the most difficult situations and can offer solutions for even the most challenging cases.

Children born with heterotaxy require life-long follow-up with a cardiologist and often many other specialists. Some children may also need to take medications to protect their heart, lungs, intestines, or to guard against infection.