Heterotaxy syndrome

Heterotaxy syndrome is a rare birth defect where all or some of an infant’s organs in their chest and abdomen are on the wrong side of their body. This means organs that typically develop on the left side may form on the right, and those normally on the right may appear on the left.

Since there are many organs involved and various ways they can be misplaced or improperly connected, no two babies will have the same presentation of heterotaxy syndrome.

Our world-class cardiologists and cardiac surgeons have the experience and expertise to care for your baby when they have this critical condition. They’ll diagnose your baby’s unique case and plan for their individual treatment.

What is heterotaxy syndrome?

The heart typically forms on the left side of the chest. When your baby has heterotaxy syndrome, their heart may form in the center or on the right side of the chest. If all the arteries and veins are connected to the right places, your baby may not have any heart symptoms. A centered or right-sided heart may function just as well as a left-sided heart.

Problems occur when the heart has other defects. The heart may not be connected properly to the lungs or the rest of the body. Or arteries and veins may not connect to the correct places within the heart. Blood may flow to the wrong areas of the lungs or heart and your baby’s oxygen levels may be affected.

Congenital heart defects associated with heterotaxy syndrome

In addition to having an abnormal arrangement of their hearts, babies with heterotaxy syndrome may have some of the following congenital heart defects:

• Atrial septal defect
• Tetralogy of Fallot
• Ventricular septal defect
• Aortic coarctation
• Single ventricle defects
• Total anomalous pulmonary venous return

Lungs & heterotaxy syndrome

The left and right lungs are normally different. The right lung typically has three lobes (cavities) while the left lobe typically has two lobes. If heterotaxy syndrome causes the right and left lungs to be on opposite sides, they may not connect properly to the heart.

Right & left isomerism

Isomerism applies to organs that occur in pairs such as the lungs. When right-sided isomerism affects a baby’s lungs, both their lungs will have three lobes like typical right lungs. With left-sided isomerism, both lungs will have two lobes like typical left lungs.

The lungs may not function correctly or be connected properly to the heart in either of these conditions.

Isomerism can also affect the chambers of the heart which are usually on the right or left side. This can cause the chambers and blood vessels to be connected abnormally.

What causes heterotaxy?

Heterotaxy probably develops early in pregnancy when the organs are being formed, but we don’t know what causes it.

Heterotaxy syndrome is linked to various gene mutations and exposure to certain toxins or chemicals during pregnancy. But it’s unclear how any of those factors may cause the condition.

If you have a family history of congenital heart disease, your doctor may recommend genetic counseling when you’re considering pregnancy. Genetic counseling won’t prevent heart defects, but it may give you a better idea of what to expect.

Heterotaxy syndrome symptoms

Heterotaxy syndrome symptoms that may be related to the heart are:

• Blue, pale or grey color of the skin, lips and nails
• Irregular heartbeat (arrhythmia)
• Fluid buildup in the lungs
• Breathing problems
• Heart murmur

Babies with heterotaxy syndrome may also have these symptoms:

• Vulnerability to infections
• Abdominal pain
• Difficulty eating and gaining weight
• Wounds that don’t heal

Heterotaxy syndrome diagnosis

Sometimes babies with congenital heart defects are identified during an ultrasound during pregnancy. Some babies’ heart defects are picked up because of signs and symptoms they have at birth. Your baby will be examined by a cardiologist who will likely order cardiac imaging such as an echocardiogram or MRI that shows where their organs are.

Your child may need other tests to evaluate how heterotaxy syndrome has affected other organs in their body.

Heterotaxy syndrome treatment

Each baby with heterotaxy syndrome is unique and the treatment is customized to each baby. Your baby’s heterotaxy syndrome treatment is likely to include more than one strategy. Some babies will need medication to help the heart function well. Others may need a pacemaker to keep the heart beating normally.

Many babies with heterotaxy syndrome that affects their heart may need one or more heart surgeries during their lifetimes.

We’re consistently ranked among the best hospitals for children’s heart care in the country. Read about our exceptional results from pediatric heart surgery.

Contact us with your questions about heart care for your child. We offer second opinions.

Find an  Advocate Children's heart center location near you.