Eisenmenger’s
Syndrome
Eisenmenger’s
syndrome is a condition that includes a collection
of symptoms: cyanosis (pale blue or grayish skin
due to decreased oxygen in the blood), pulmonary
hypertension (high blood pressure in the blood
vessels of the lungs), and erythrocytosis (increased
number of red blood cells in the blood due to
decreased oxygen in the blood).
Eisenmenger’s
syndrome primarily affects adolescents and adults
with certain congenital heart defects that are
repaired late (after the first year of life) or
that are never repaired. Eisenmenger’s syndrome,
however, can occur in infants or children born
with pulmonary hypertension; therefore, symptoms
related to cyanosis may occur much earlier in
life.
Eisenmenger’s
syndrome progresses over time as a result of the
effects of high blood pressure in the lungs. This
high blood pressure, or pulmonary hypertension,
occurs because of congenital heart defects that
cause blood flow from the left side of the heart
to the right side of the heart (left-to-right
shunt). Congenital heart defects of this type
include:
- patent ductus arteriosus
(PDA) - a connection between the aorta and the
pulmonary artery which allows oxygen-rich (red)
blood that should go to the body to recirculate
through the lungs.
- atrial septal defect
(ASD) - an opening in the atrial septum, or
dividing wall between the two upper chambers
of the heart known as the right and left atria.
- ventricular septal
defect (VSD) - an opening in the ventricular
septum, or dividing wall between the two lower
chambers of the heart known as the right and
left ventricles.
- atrioventricular canal
defect (AV canal) - a complex heart problem
that involves several abnormalities of structures
inside the heart, including an ASD, VSD, and
improperly formed mitral and/or tricuspid valves.
Because
the pressures within the left side of the heart
are normally greater than those within the right
side of the heart, an opening between the left
and right side of the heart will cause blood to
flow from the left side of the heart into the
right side. This left-to-right shunting of blood
within the heart causes increased blood flow in
the blood vessels of the lungs. The increased
blood flow in the lungs’ blood vessels causes
increased pressure in these vessels (pulmonary
hypertension).
If the
pulmonary hypertension continues without treatment,
the pressure in the right side of the heart may
increase to the point that the right side pressure
is greater than the left. When this occurs, blood
will flow from the right side of the heart to
the left (right-to-left shunt), which means that
oxygen-poor blood is mixed with the oxygen-rich
blood pumped out to the body from the left ventricle.
A right-to-left
shunt causes insufficient oxygen in the blood.
In addition, high pressure in the lungs causes
progressive changes in the pulmonary blood vessels
which result in irreversible damage to the lining
of these blood vessels. Fibrosis (the growth of
scar tissue due to infection, inflammation, injury,
or even healing), and thrombus (clotting) may
also occur. The changes inside the lung blood
vessels may be referred to as pulmonary vascular
obstructive disease or secondary pulmonary arterial
hypertension (PAH).
The
following are the most common symptoms of Eisenmenger’s
syndrome. However, each child may experience symptoms
differently, and each individual may have wide
variation of symptoms from mild to severe. Symptoms
may include:
- cyanosis (pale blue
or grayish skin due to decreased oxygen in the
blood)
- dyspnea on exertion
(shortness of breath with activity)
- shortness of breath
at rest
- fatigue
- chest pain
- palpitations (heart
“racing”)
- headache
- dizziness or syncope
(fainting)
- paresthesias (numbness
and tingling)
- blurred vision
- blood clots (e.g.,
deep vein thrombosis in extremities)
- hemorrhage (bleeding)
- stroke
- brain abscesses
- gout
Many
of these symptoms can be early warning signs of
changes in condition and should be regarded seriously.
Symptoms should be evaluated by your child’s
physician as soon as possible.
The symptoms of Eisenmenger’s syndrome may
resemble other medical conditions or heart problems.
Always consult your child's physician for a diagnosis.
A child
or adolescent with a history of an atrial septal
defect (ASD), ventricular septal defect (VSD),
patent ductus arteriosus (PDA), or atrioventricular
canal defect (AV canal) that has been unrepaired
or repaired after one year of age is at risk for
developing Eisenmenger’s syndrome.
The
physician may note a change or increase in intensity
of a cardiac murmur (a blowing or rasping sound
heard while listening to the heart that may or
may not indicate problems within the heart or
circulatory system) during a routine physical
examination. Complaints of change in exercise
tolerance or any associated shortness of breath,
chest pain, or palpitations, especially with activity,
should be reported to the physician for further
investigation.
The
physician will perform a physical examination,
listening to the heart and lungs, and make other
observations that help in the diagnosis. Other
tests that may be performed to help with the diagnosis
include the following:
- blood tests - tests
to evaluate for an elevated red blood cell count
(erythrocytosis) and anemia.
- chest x-ray - a diagnostic
test which uses invisible electromagnetic energy
beams to produce images of internal tissues,
bones, and organs onto film. There may be changes
that take place in the lungs due to extra blood
flow that can be seen on an x-ray.
- electrocardiogram
(ECG or EKG) - a test that records the electrical
activity of the heart, shows abnormal rhythms
(arrhythmias or dysrhythmias), and detects heart
muscle stress.
- echocardiogram (echo)
- a procedure that evaluates the structure and
function of the heart by using sound waves recorded
on an electronic sensor that produce a moving
picture of the heart and heart valves. An echo
can show the pattern of blood flow through the
PDA, and determine how large the opening is,
as well as how much blood is passing through
it.
- cardiac catheterization
- a cardiac catheterization is an invasive procedure
that gives very detailed information about the
structures inside the heart. Under sedation,
a small, thin, flexible tube (catheter) is inserted
into a blood vessel in the groin, and guided
to the inside of the heart. Blood pressure and
oxygen measurements are taken in the four chambers
of the heart, as well as the pulmonary artery
and aorta. Contrast dye is also injected to
more clearly visualize the structures inside
the heart.
- magnetic resonance
imaging (MRI) - a diagnostic procedure that
uses a combination of large magnets, radiofrequencies,
and a computer to produce detailed images of
organs and structures within the body. MRI may
be used to aid in estimating pulmonary artery
pressures in the lungs and to clarify any blood
shunting.
Specific
treatment for Eisenmenger’s syndrome will
be determined by your child's physician based
on:
- your child's age, overall
health, and medical history
- extent of the disease
- your child's tolerance
for specific medications, procedures, or therapies
- expectations for the
course of the disease
- your opinion or preference
The
goals of treatment for Eisenmenger’s syndrome
are aimed at decreasing the pulmonary artery pressure,
improving oxygenation, and decreasing degree of
cyanosis and erythrocytosis. Treatment methods
may include, but are not limited to, the following:
- medical treatment
Medical treatment for Eisenmenger’s syndrome
is based on symptoms. Types of medical treatments
include:
- medications
Medications that help to decrease pulmonary
hypertension may be prescribed. These medications
include calcium channel blockers, prostacyclin,
and endothelin receptor antagonists, and
work to dilate blood vessels which helps
to lower the blood pressure in the lungs.
If right heart failure develops, diuretics
(water pills) may be prescribed to help
decrease blood volume.
- oxygen
Supplemental oxygen may be used during sleep
periods or while resting. Use of oxygen
may progress to continuous use for symptom
relief.
- phlebotomy
Phlebotomy (removal of blood) may be recommended
when erythrocytosis causes hyperviscosity
(extreme thickness) of the blood. The volume
of the blood removed is replaced with intravenous
(IV) saline solution to thin the blood.
Phlebotomy is generally done only when symptoms
are severe and/or the hematocrit (the percentage
of blood that is made up of red blood cells)
becomes extremely elevated.
- other treatments
Eisenmenger’s syndrome that develops as
a result of a congenital heart defect that was
never repaired is generally not treated by repairing
the original defect, as it would increase the
workload on the right ventricle and lead to
a poor outcome. Lung transplantation or heart-lung
transplantation may be performed when other
treatments are no longer effective.
Some
individuals with Eisenmenger’s syndrome
who have no other health complications may live
into middle adulthood, and a few may survive into
the fifth or sixth decade of life.
Considerations
related to Eisenmenger’s syndrome include,
but are not limited to, the following:
- Pregnancy is not recommended
for females of child-bearing age with Eisenmenger’s
syndrome. Pregnancy may pose a high risk of
death for the mother as well as complications
for the fetus due to effects of low oxygen levels
in the blood.
- Any anesthesia and
surgery is considered high risk and should be
carefully planned. Collaboration with a cardiac
specialist is recommended.
- Air travel and high
altitude exposure requires adequate hydration
(fluid intake) and supplemental oxygen to prevent
complications.
- Severe headache, dizziness,
syncope (fainting), or changes in level of consciousness
should be taken seriously and evaluated emergently.
- Smoking and alcohol
intake are not recommended.
- Coughing should be
controlled or prevented with a strong suppressant
medication to prevent risk of pulmonary hemorrhage
(bleeding from the lungs).
- Flu shots are recommended
annually, and pneumococcal vaccine should be
received according to the physician’s
recommendation.
Consult
your child's physician regarding the specific
outlook for your child.
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