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What is heterotaxy syndrome?

Heterotaxy is a condition in which the internal organs in the chest and abdomen are not where they are normally located. The most common organs affected are the heart, lungs, liver, spleen, stomach and intestines.

Heterotaxy may be caused by genetic changes, exposure to toxins during pregnancy, or from other unknown causes. It occurs in about one in 10,000 births, and boys are twice as likely as girls to have heterotaxy.

Symptoms of heterotaxy may include heart defects, breathing difficulties, increased infection risk and digestion issues. 

There are two types of heterotaxy:

  • Right Isomerism - generally involves multiple heart defects. The child may be missing a spleen and/or have the liver and other organs on the wrong side of the body.
  • Left Isomerism - usually involves septal defects (holes in the muscle that divides the two sides of the heart), valve issues and problems with the heart's electrical system. Some children also have a missing spleen or many small spleens.

Diagnosis and treatment of heterotaxy

Heterotaxy is diagnosed by imaging with a CT scan or MRI. Heart defects will be imaged by echocardiogram. Blood tests may be done for genetic testing and to see if the immune system is working properly. Other tests may also be needed to evaluate the intestines and kidneys for proper function, shape, and function.

Children with heterotaxy may also have related conditions, such as congenital heart defects, malrotation of the intestines, asplenia (no spleen) or polysplenia (many small spleens that are nonfunctional).

In many cases, children are diagnosed with heterotaxy prior to delivery. These families will be cared for in the Fetal Health Center, where they will meet with a team of providers to plan for treatment. Children who are diagnosed at birth are typically referred to the cardiology team at Children's Mercy, who can help them develop a plan of care.  

Treatment options

On average, around 13 children receive treatment for heterotaxy at Children's Mercy each year.
There are many options for treatment, depending on any other underlying cardiac defects. Treatment may include, but is not limited to, the following:

  • Shunt placement
  • Pacemaker placement
  • Single ventricle palliation
  • Medical treatment for symptomatic treatments
  • Other surgical or medical procedures as needed to best serve your child and family.

Treatment may include inpatient stays, outpatient services and home care if needed.

What to expect

Children's Mercy has social workers, psychologists
, doctors, nurses, nurse practitioners, respiratory therapists, sonographers and many others on our team to assist in the care of your child. Your primary care team and all follow-up care will be directed by specialized doctors, nurse practitioners, nurses and others who specialize in heart defects.

Resources for families

Heterotaxy Connection