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The Heterotaxy Program at Boston Children’s Hospital provides comprehensive care to infants and children with heterotaxy, a complex syndrome that affects many organ systems throughout the body. Our team of expert clinicians from across disciplines provides a full range of lifetime care for patients, from diagnosis and treatment to follow-up examinations and consultations.

Why choose the Heterotaxy Program?

Children with heterotaxy syndrome often have complex congenital heart defects (CHD), but other parts of the body are often significantly affected, including the lungs, immune system, and intestines. We understand that children with heterotaxy need comprehensive care. That’s why our team includes doctors from several specialties so we can collectively treat the wide range of conditions associated with heterotaxy.

Your child’s heterotaxy care team may include:

  • Cardiologists: The cardiologists on our team identify and treat abnormalities of the heart — from mild problems to the most complex — associated with heterotaxy syndrome. They use advanced imaging techniques, including echocardiography, cardiac magnetic resonance imaging (MRI), cardiac computed tomography (CT), and three-dimensional modeling, along with cardiac catheterization, to gain a complete understanding of your child’s heart. Our cardiologists collaborate closely with our cardiac surgeons to ensure the best possible heart treatment for your child.
  • Cardiac surgeons: Our cardiac surgeons have extensive experience performing heart surgery for infants, children, and adults who have CHD associated with heterotaxy syndrome. They use a wide range of techniques, including biventricular repair, to treat many forms of complex heterotaxy. They also have expertise in single ventricle surgeries, including those for patients who have unusual or complicated forms of heterotaxy.
  • Electrophysiologists: Many children with heterotaxy syndrome have abnormal heart rhythms, such as bradycardia (complete heart block that makes the heart beat slowly) or tachycardia (the heart beats too quickly). Our electrophysiologists are experts in diagnosing and treating heart rhythm problems and will provide a comprehensive assessment of your child.
  • Pulmonologists: Some patients with heterotaxy syndrome have a lung condition called primary ciliary dyskinesia (PCD) that can increase the risk for infection. While not all patients with heterotaxy have PCD or pulmonary disease, our pulmonologists can help determine if testing is necessary. These screenings may include genetic testing, nasal nitric oxide measurements, and looking at cilia structure with electron microscopy.
  • Otolaryngologists (ear, nose, and throat specialists): Our otolaryngologists work closely with pulmonologists to help identify PCD and treat other ear, nose, and throat issues that may occur in heterotaxy.
  • Gastroenterologists, hepatologists, and general surgeons: Some children with heterotaxy syndrome also have problems with their internal organs. These can include malrotation (a problem in the way the stomach and intestines are positioned in the abdomen) and biliary atresia (a condition where the common bile duct in a gallbladder is blocked or damaged). Our team of gastroenterologists, hepatologists, and general surgeons has specific expertise caring for children with internal organ conditions connected to heterotaxy.
  • Immunologists: Children with heterotaxy syndrome are at higher risk for having an absent or non-functioning spleen or other abnormalities of the immune system. This can put them at risk for severe infections. Our immunologists will assess the function of your child’s immune system and may recommend prophylactic antibiotics or special vaccinations to provide extra immune protection.
  • Geneticists: A geneticist can help identify if your child’s heterotaxy has a genetic cause. This information may help you learn more about how heterotaxy syndrome will affect your child. It can also be useful for giving your family a better understanding of the condition and whether family members could be affected.
  • Radiologists: Our radiologists use various imaging techniques, such as x-rays, computed tomography, ultrasound, and nuclear medicine to find conditions related to heterotaxy. They work with other team members to develop a treatment plan for your child.
  • Anesthesiologists: Our cardiac anesthesiology team provides care to children undergoing cardiac imaging, catheterization, and surgery. The team is familiar with heterotaxy syndrome and the multiple challenges it can present to pulmonary function, vascular anatomy, and cardiac disease. Our anesthesiologists work closely with your child’s cardiologist and cardiac surgeon to make sure your child receives safe and excellent care.
Graphic with the words "heterotaxy syndrome"

Check out our downloadable pamphlet for a summary about heterotaxy syndrome. It provides details about the diagnosis, testing, treatment at Boston Children’s, and more.

Our approach to heterotaxy syndrome

Each child with heterotaxy syndrome has a unique set of health issues. Our team has extensive experience in the care of the most complex and challenging conditions associated with heterotaxy and in-depth knowledge of how to treat the condition itself. We will work to understand how heterotaxy syndrome is affecting your child’s overall health. Specialists relevant to your child’s condition will separately examine them. Once our assessments are complete, our team members will meet to create a treatment plan to address all the health needs of your child.

Doctor and young girl pose together in hospital room.

From California to Boston for a biventricular repair

Elyse, who has heterotaxy, was not a candidate for a biventricular repair at a local hospital. Not taking "no" for an answer, her parents reached out to Boston Children’s for help. Now healthy after several surgeries, Elyse is making plans for her future.