What is heterotaxy syndrome?
Heterotaxy syndrome is a rare birth defect in which the body’s organs are abnormally arranged or are not formed correctly in the chest and abdomen. In a normal body, the organs have a particular alignment on the right or left side of the body, but with heterotaxy syndrome, this orientation can be completely flipped from right to left, affecting the structure of the heart and lungs. Thus, due to this abnormal orientation, individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, and other organs.
What causes heterotaxy syndrome?
It is not clear what exactly causes heterotaxy syndrome, but some research suggests that genetics, infections, or exposure to certain chemicals may be factors.
What are the symptoms of heterotaxy syndrome?
The signs and symptoms of heterotaxy syndrome are dependent on the organs involved. They can include:
- Bluish appearance of the skin or lips
- Breathing difficulties or rapid breathing
- Increased risk of infections
- Food digestion problems
- Poor weight gain
How is heterotaxy syndrome diagnosed?
Heterotaxy syndrome can sometimes be diagnosed before birth using a fetal echocardiogram (heart ultrasound). For diagnosis after birth, doctors can used one or more of the following tests:
- Chest x-ray
- Echocardiography (EKG or ECG)
- Cardiac magnetic resonance imaging (MRI) or CT
- Abdominal imaging
What are the available treatments for heterotaxy syndrome?
Heterotaxy syndrome is very complex and thus involves many challenging problems. Treatment for the condition varies depending on the specific type of heart and organ problems in the individual case. Surgery is usually the first course of treatment to fix these problems, and medications to protect the heart and guard against infection are typically prescribed for the rest of the child’s life. Catheterization, implantable pacemakers, and reconstructive surgeries are also used to correct heterotaxy syndrome.
Where can I find more information on heterotaxy syndrome?