Pediatric Heterotaxy Syndrome

A child with heterotaxy syndrome (het·​er·​o·​taxy) has organs that don’t develop normally and will require lifelong care.

At Children’s Health℠, we bring together multiple specialists to meet your child’s complex medical needs. Although heterotaxy syndrome is rare, we treat a high volume of children with the condition every year. We have the depth of experience needed to help your child.


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What is Pediatric Heterotaxy Syndrome?

Most children with heterotaxy syndrome have complex heart defects such as missing heart chambers. A healthy heart has two pumping that pump blood to the lungs and the rest of the body. A child with heterotaxy syndrome may have:

  • Only one pumping chamber
  • Holes called septal defects
  • Missing valves

This single pumping chamber struggles to do the work of two chambers. Without proper treatment and lifelong care, this heart condition can be life-threatening.

Other problems associated with heterotaxy syndrome include:

  • Arrhythmia, which causes the heart to beat too fast or too slow or to beat irregularly
  • Immune problems from a missing spleen, which increase the risk of infections
  • Intestinal malrotation, which causes the intestines to twist and form in the wrong direction
  • Lung problems, which can lead to breathing difficulties and infections like pneumonia

What are the signs and symptoms of Heterotaxy Syndrome?

Heterotaxy syndrome affects every child differently. Symptoms may be mild or severe, depending on the complexity of the heart defects and problems in other organs. Infants with significant heart defects have symptoms soon after birth, such as:

  • Blue skin from low oxygen levels (cyanosis)
  • Heart rhythm disorders
  • Breathing problems
  • Feeding or growth problems

Some children may not show other signs of the condition, such as chronic infections, until they’re in grade school or even older.

How is Heterotaxy Syndrome diagnosed?

While a baby is in the womb, doctors at our Fetal Heart Program can detect heart defects and problems in other organs caused by heterotaxy syndrome. The condition also can be detected soon after childbirth. A newborn screening conducted by pediatricians at the hospital where you deliver may show that your baby’s oxygen levels are too low.

Mild cases may go undetected until a child is older. Your child’s doctor may hear a heart murmur (unusual heart sound), or your child may have a lot of chronic infections.

Children’s Health offers advanced cardiac imaging designed specifically for young children. These tests help us diagnose heterotaxy syndrome and determine the severity of the disease. Your child may get some of the following tests:

What causes Heterotaxy Syndrome?

Changes to DNA (mutations) in different genes can cause heterotaxy syndrome. These changes affect proteins that determine how and where organs develop. Most children with heterotaxy syndrome develop the condition for no apparent reason. Occasionally, the condition affects members of the same family. A child may inherit from a parent a changed gene that causes the condition.

How is Heterotaxy Syndrome treated?

Because heterotaxy syndrome affects different organs, your child receives care from a team of doctors who specialize in treating all aspects of the condition. We customize the treatment plan to address issues unique to your child.

Specialists at our Heart Center perform complex heart surgeries to improve heart function. Most infants with serious heart defects will need multiple surgeries, with the first one happening within the first few months of life.

Your child may also need medical treatments and surgeries for problems that affect the intestines, lungs and other organs. Our team works together to provide treatments that improve your child’s overall health.

Heterotaxy Syndrome doctors and providers

At Children’s Health, we bring together all of the medical experts your child needs. Our team of specialists provides collaborative, comprehensive care.

Frequently Asked Questions

  • How common is heterotaxy syndrome?

    Heterotaxy syndrome is a rare condition that affects approximately 1 in 10,000 people worldwide. It accounts for approximately 3% of all congenital heart diseases.

  • What is the prognosis for a child with heterotaxy syndrome?

    The outlook for a child with heterotaxy syndrome depends on the severity of the heart defects and the affected organs. Your child needs lifelong monitoring by a cardiologist and may need to see other specialists, too. Many children need more than one heart surgery.

  • Can heterotaxy syndrome develop later in life?

    A person is born with heterotaxy syndrome and its associated organ changes. But some people with mild cases don’t discover they have the condition until problems arise during their teen or adult years.