Heterotaxy | Diagnosis & Treatments
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:
- chest x-ray, to get an overview of the size and position of the heart and the lungs
- electrocardiogram (ECG), to get an overview of the heart rhythm
- holter monitor, a 24-hour test to get extensive heart rhythm information
- cardiac magnetic resonance imaging (MRI) or computed tomography (CT), which are advanced diagnostic tests to show additional details of a heart defect
- cardiac catheterization (cath) to check pressures in different areas of the heart
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.
How 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.