What is Heterotaxy Syndrome?
asplenia or polysplenia, Ivemark Syndrome
Madisons Foundation m-Power® Rare Disease Database:
Heterotaxy syndrome is a disorder that results in certain organs forming on the
opposite side of the body. For example, instead of the heart normally forming on
the left side of the chest, it will be located on the right side. Heterotaxy has
been known to affect the development of the heart, liver, lungs, intestines, and
spleen. Babies with Heterotaxy syndrome are usually first identified because
they have structural problems with their hearts or livers.
Heterotaxy syndrome is
equally common in boys and girls and can occur in all ethnic groups. For every
1,000,000 babies born, 4 of them will have Heterotaxy syndrome. Rarely,
Heterotaxy can only affect the boys in some families.
Signs and Symptoms
Babies with Heterotaxy can have symptoms that start shortly after birth from any
of the organs listed above. The heart is involved about 80% of the
time and the
first thing that may be seen is a blue color to the skin (cyanosis) that most
commonly is found on the lips and under the fingernails. Over time, your baby
may develop poor feeding, fast breathing, increased sweating when they eat, or
poor weight gain. All of these findings are signs that the heart is not able to
pump enough blood to the body to meet its needs and is called "heart failure."
Sometimes your doctor might hear an unusual heart beat or an extra sound when
they listen to the heart (heart murmur). Heterotaxy can also affect the liver
and intestine. Biliary
atresia is due to a failure of the bile ducts in the
liver to form correctly and can cause jaundice
(a yellow color of the skin). If
the intestines are abnormally positioned inside the body, then it is more likely
for the intestine to get blocked and your baby may have vomiting or swelling of
their stomach when they eat. When the spleen is involved your child can have
either no spleen (asplenia) or many little spleens (polysplenia). Even if there
are many little spleens, sometimes they don't work well enough to help fight off
certain types of infections.
The exact cause of
Heterotaxy is not known, but the symptoms result from the way that the internal
organs turn into position during
fetal development. This rotation can be
affected by many different factors including: infection, genetics, or exposures
to certain chemicals. There are a few reports of families having several members
with Heterotaxy, but the exact cause has not been identified yet.
Making the diagnosis of Heterotaxy syndrome involves an ultrasound of the heart
(echocardiogram) that will allow a pediatric
cardiologist to best see the
structures of your child's heart. An electrocardiogram (EKG) is usually done to
ensure there are no heart rhythm problems. An x-ray can help to evaluate the
heart size and look for what side the abdominal organs and heart are on. The
intestines can also be twisted incorrectly and an upper gastrointestinal series
should be done to look for this. A liver-spleen scan should also be done to
check for a functioning spleen. Finally, a cardiac catheterization procedure may
be needed for a more detailed view of the child's heart structures in
preparation for corrective surgery.
Heterotaxy syndrome and heart disease will need medications to help prevent
heart failure in addition to surgery to correct the abnormalities. The type of
heart surgery performed will be based on each child's particular heart problems.
Children with Heterotaxy are also at increased risk of having irregular
electrical signals in their heart tissue and may need a pacemaker later in life.
If the intestines are twisted incorrectly, surgery will be needed to place the
intestines into the proper position to prevent any blockage. When biliary
atresia occurs, a liver transplant is often required. If the spleen isn't
functionally properly, children with Heterotaxy will need to take daily
antibiotics and receive special vaccinations to protect them from certain
Without corrective surgery, most children with Heterotaxy syndrome and
significant heart problems will not survive beyond the first year of life. If
your child doesn't have many organs involved, then they can lead a fairly normal
life. Even with surgery, the majority of children still face many challenges
based upon their exact anatomy.