Heterotaxy | Diagnosis & Treatment

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.