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 Cardiomyopathies
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Fast Arrhythmias What is Down syndrome? Informed
Down syndrome, also known as Trisomy 21, is the single most common
Hyperlipidemia
genetic pattern of malformation in man.
Hypertension
(High Blood
Pressure) Most text books quote the incidence of Down syndrome to be between
one in 700 to 800 live births.
Kawasaki Disease

Myocarditis
In 1866, John Langdon Haydon Down described the physical features and
Primary associated medical problems that have come to be known as Down
Pulmonary
syndrome.
Hypertension

Heart-Related
In the 1930s, physicians established a relationship between advanced
Syndromes
maternal age and Down syndrome. The chromosomal, or genetic, basis of
Heart-Related
Down syndrome was not established until 1959.
Syndromes

Turner
A normal human cell contains 23 pairs of chromosomes which carry all of
Syndrome
a person's genetic information. Due to several possible abnormal
Noonan
mechanisms of cell reproduction, patients with Down syndrome have an
Syndrome
extra (third) copy of the 21st chromosome. Thus, Down syndrome is also
Down
called Trisomy 21.
Syndrome

Marfan
Advanced maternal age is associated with a high incidence of Trisomy 21,
Syndrome
but even women of typical child bearing age can have affected babies.
Velo-Cardio-
Facial
Syndrome While the diagnosis may be strongly suggested by characteristic physical
findings, the final diagnosis is often made only after chromosome
VACTERL or
VATER analysis, which includes a complete count and visualization under a
Association
microscope of the chromosomes taken from cells in the blood.
Ehlers-Danlos
Syndrome
(EDS) A geneticist most often performs this along with a clinical evaluation.

Signs and
Symptoms Return to Top

Cardiac-Related
What are the physical characteristics of Down
Diagnostic Methods
syndrome?
Treatment Options
The physical characteristics of Down Syndrome in infancy typically involve
Glossary low muscle tone, flat appearance of the face, upward slanting eye
creases, small ears, single skin crease in the palm, extremely flexible
Contact Us
joints, large tongue, and several others.
Physical characteristics may be very obvious, but sometimes are so subtle
that the diagnosis can only be made after testing is completed. Physical
findings do change as the child ages and certain features may become
more or less noticeable with time.

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Non-cardiac medical problems associated with Down

syndrome
While this chapter focuses on the heart problems associated with Down
syndrome, some of the other medical problems seen with Trisomy 21 are:

1. Developmental delay -- All children with Down syndrome are

delayed, although this may not be apparent until the child is
beyond infancy. IQ scores range from 20 (severe mental
retardation) to 85 (low normal). Overall learning abilities are
usually equivalent to a 6 to 8 year old child without Down
syndrome.
2. Gastrointestinal abnormalities -- 2 percent to 5 percent of
children have complete obstruction of the small bowel known as
duodenal atresia. Another 2 percent have poor movement abilities
of the colon and / or rectum known as Hirschsprung disease.
3. Hearing loss -- Some degree of hearing loss is present in 40
percent to 75 percent of children with Down syndrome.
Malformations may affect either the middle or inner ear
structures. Ear infections can be a frequent, often difficult
problem to treat.
4. Eye disorders -- 60 percent of children have eye disorders that
need monitoring and treatment. Congenital cataracts (loss of
transparency of the lens of the eye), glaucoma (increased
pressure within the eye), strabismus (cross-eyed) and major
refractory errors (far sighted or near sighted) are the common
problems.
5. Leukemia -- Leukemia occurs in one of every 150 children with
Down Syndrome. This is 20 times higher than the general
population.
6. Thyroid disorders -- Low thyroid levels are seen in approximately
5 percent of children with Down syndrome.

Return to Top

Congenital heart disease associated with Down

syndrome
The overall incidence of congenital heart disease in the general population
is 0.8 percent. The incidence of congenital heart disease in children with
Down syndrome is up to 50 percent.

The types of heart defects in children with Down syndrome can be broken
down into three broad categories:
 1. Atrioventricular septal defects
2. Ventricular septal defect (VSD), atrial septal defect, or patent
ductus arteriosus
3. Other complex heart disease

Atrioventricular septal defects (AV Canal) is greatly over-represented in

these children, making up approximately 60 percent of the congenital
heart disease found in Trisomy 21. For comparison, AV canals account for
only 2.9 percent of the congenital heart defects in the general population.

Ventricular septal defects, atrial septal defects, and patent ductus

arteriosus comprise another 20 percent of the congenital heart disease
associated with Down syndrome, although these defects are much more
common in the general population compared to AV canals.

Other complex congenital heart diseases including Tetralogy of Fallot and

hypoplastic left heart syndrome comprise the rest of the heart disease
seen in Trisomy 21.

In addition to the heart defects associated with Down Syndrome, isolated

elevated blood pressure in the lungs (pulmonary hypertension) is seen
with higher frequency in patients with Down syndrome. This high pressure
may be related to malformation of the lung tissue, although the exact
cause is not known.

The higher pressures may limit the amount of blood flow to the lungs and
therefore decrease the likelihood of symptoms of congestive heart failure
seen in babies with complete AV canals or large ventricular septal defects.

However, since the pulmonary hypertension can become irreversible,

particularly if these large holes are not surgically corrected by a year of
age, children with Down syndrome and AV canals or large ventricular
septal defects are often referred for surgery earlier than a non-Down
syndrome child with the same heart defect.

If the baby does have evidence of high pressures in the lungs, it may
complicate postoperative management and hence prolong the recovery
time.

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Signs and symptoms of children with Down syndrome

and congenital heart disease
Depending on the type of heart defect, children with Down syndrome and
heart disease may have a variety of symptoms.

Babies with complete AV canal defects may have signs and symptoms of
congestive heart failure such as a fast respiratory rate, labored breathing,
difficulty completing feedings, sweating with feedings and poor weight
gain.

Children with partial AV canals can be asymptomatic because the extra

blood flow to the lungs is not enough to cause symptoms of congestive
heart failure.

Even babies with large ventricular septal defects as part of their heart
disease who should have large amounts of extra blood flowing to their
lungs may have no symptoms due to high pressures in the lungs. These
babies must be watched carefully to determine the proper timing for
surgery.

Return to Top

Tests to diagnose congenital heart disease in babies

with Trisomy 21
Most cardiologists would agree that all babies that have been diagnosed
with Down syndrome should have a cardiology evaluation because of the
high incidence of associated congenital heart defects.

What degree of cardiac evaluation remains controversial. A good history

and physical examination should be performed by an experienced
cardiologist to rule out any obvious heart defect.

Most cardiologists would perform an electrocardiogram, which can be very

helpful in making the diagnosis of AV canal, even in the absence of
physical findings.

Some cardiologists would be satisfied with this level of evaluation. There

are those, though, who would argue that at least one echocardiogram
should be performed to rule out subtle heart problems.

If the diagnosis of congenital heart disease is made, the cardiologist will

follow the child with office visits on a fairly regular basis. Most patients
can be watched clinically to determine if the child is having difficulty due
to the heart defect.

Occasionally, a repeat electrocardiogram, chest X-ray, or echocardiogram

is performed to further evaluate clinical changes. These tests are likely to
be repeated before surgical repair is recommended.

Rarely, a cardiac catheterization is required for complete evaluation prior

to corrective surgery, especially in patients where elevated pressures in
the lungs are a concern.

Return to Top

Treatment options for children with Down syndrome and

congenital heart disease
Children with Down syndrome and symptoms of congestive heart failure
can be initially managed medically with the use of diuretics, blood
pressure medications to allow the heart to eject more blood out to the
body rather than out to the lungs, and / or digoxin, a medication used to
improve the pumping ability of the heart.

If the baby is having difficulty with feeding and weight gain, nasogastric
tube feedings with high calorie formula or fortified breast milk can be used
to help with growth.

These are all temporary solutions to allow the baby to grow while deciding
if and when surgery is indicated. In general, atrial septal defects,
ventricular septal defects, and AV canal defects are closed surgically if the
child is demonstrating congestive heart failure that cannot be controlled
with medication.

If the baby has no signs of heart failure or is controlled well with

medications, the decision for surgical closure can be delayed. AV canals
are usually repaired electively between 3 and 6 months of age.

Depending on the size of an atrial septal defect or a ventricular septal

defect, surgery can be postponed even longer, keeping in mind the risk of
developing irreversible high pressures in the lungs.

The decision must be individualized to each child's physical state as well

 as the family's concerns.

Return to Top

Long-term prognosis of babies with Down syndrome and

congenital heart disease
Overall, survival beyond one year of age is 85 percent in all children with
Down syndrome. Over 50 percent of individuals with Down syndrome live
to be greater than 50 years old.

Congenital heart disease is the most common cause of death in early

childhood. However, as of the late 1980s, 70 percent of children with
Down syndrome and congenital heart disease lived beyond their first
birthday. With improved medical and surgical care, these numbers
continue to improve.

Return to Top

Down syndrome resources

There are many websites related to Down syndrome. Here are a few with
which to start:

Cincinnati Children's Down Syndrome Program

Cincinnati Children's Jack H. Rubinstein Library Down Syndrome
Resources
The Down Syndrome WWW Page
The National Down Syndrome Society
National Association for Down Syndrome
Down Syndrome Association of Greater Cincinnati

Return to Top

Contact Cincinnati Children's Heart Center

Revised 9/06

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