Download Tetralogy of Fallot

I. Tetralogy of Fallot
(Tet; TOF)
Tetralogy of Fallot refers to a type of congenital heart defect. Congenital means present at birth.
Causes Tetralogy of Fallot is classified as a cyanotic heart defect because the condition causes low
oxygen levels in the blood. This leads to cyanosis (a bluish-purple color to the skin).
The classic form of tetralogy includes four related defects of the heart and its major blood vessels:
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Ventricular septal defect (hole between the right and left ventricles)
Narrowing of the pulmonary outflow tract (the valve and artery that connect the heart with the lungs)
Overriding aorta (the artery that carries oxygen-rich blood to the body) that is shifted over the right
ventricle and ventricular septal defect, instead of coming out only from the left ventricle
A thickened muscular wall of the right ventricle (right ventricular hypertrophy)
At birth, infants may not show signs of cyanosis. However, later they may develop sudden episodes
(called "Tet spells") of bluish skin from crying or feeding.
Tetralogy of Fallot is rare, but it is the most common form of cyanotic congenital heart disease. Patients
with tetraology of Fallot have a higher incidence of major non-heart congenital defects.
The cause of most congenital heart defects is unknown. Many factors seem to be involved.
Factors that increase the risk for this condition during pregnancy include:
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Alcoholism in the mother
Diabetes
Mother who is over 40 years old
Poor nutrition during pregnancy
Rubella or other viral illnesses during pregnancy
There is a high incidence of chromosomal disorders in children with tetralogy of Fallot, such as Down
syndrome and DiGeorge syndrome (a condition that causes heart defects, low calcium levels, and
immune deficiency).
Symptoms
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Clubbing of fingers (skin or bone enlargement around the fingernails)
Cyanosis, which becomes more pronounced when the baby is upset
Difficult feeding (poor feeding habits)
Failure to gain weight
Passing out
Poor development
Squatting during episodes of cyanosis
Exams and Tests
A physical examination with a stethoscope almost always reveals a heart murmur.
Tests may include:
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Chest x-ray
Complete blood count (CBC)
Echocardiogram
Electrocardiogram (EKG)
MRI of the heart (generally after surgery)
Treatment
Surgery to repair tetralogy of Fallot is done when the infant is very young. Sometimes more than one
surgery is needed. When more than one surgery is used, the first surgery is done to help increase blood
flow to the lungs.
Surgery to correct the problem may be done at a later time. Often only one corrective surgery is
performed in the first few months of life. Corrective surgery is done to widen part of the narrowed
pulmonary tract and close the ventricular septal defect.
Outlook (Prognosis)
Most cases can be corrected with surgery. Babies who have surgery usually do well. Ninety percent
survive to adulthood and live active, healthy, and productive lives. Without surgery, death usually
occurs by the time the person reaches age 20.
Patients who have continued, severe leakiness of the pulmonary valve may need to have the valve
replaced.
Regular follow-up with a cardiologist to monitor for life-threatening arrhythmias (irregular heart
rhythms) is recommended.
Possible Complications
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Delayed growth and development
Irregular heart rhythms (arrhythmias)
Seizures during periods when there is not enough oxygen
Death
II. Ventricular septal defect (VSD; Interventricular septal defect)
Ventricular septal defect describes one or more holes in the wall that separates the right and left
ventricles of the heart. Ventricular septal defect is one of the most common congenital (present from
birth) heart defects. It may occur by itself or with other congenital diseases.
Causes
Before a baby is born, the right and left ventricles of its heart are not separate. As the fetus grows, a wall
forms to separate these two ventricles. If the wall does not completely form, a hole remains. This hole is
known as a ventricular septal defect, or a VSD.
Ventricular septal defect is one of the most common congenital heart defects. The baby may have no
symptoms, and the hole can eventually close as the wall continues to grow after birth. If the hole is
large, too much blood will be pumped to the lungs, leading to heart failure.
The cause of VSD is not yet known. This defect often occurs along with other congenital heart defects.
In adults, ventricular septal defects are a rare but serious complication of heart attacks. These holes are
related to heart attacks and do not result from a birth defect.
Symptoms
Patients with ventricular septal defects may not have symptoms. However, if the hole is large,
symptoms, the baby often has symptoms related to heart failure.
The most common symptoms include:
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Shortness of breath
Fast breathing
Hard breathing
Paleness
Failure to gain weight
Fast heart rate
Sweating while feeding
Frequent respiratory infections
Exams and Tests
Listening with a stethoscope usually reveals a heart murmur (the sound of the blood crossing the hole).
The loudness of the murmur is related to the size of the defect and amount of blood crossing the defect.
Tests may include:
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Chest x-ray -- looks to see if there is a large heart with fluid in the lungs
ECG -- shows signs of an enlarged left ventricle
Echocardiogram -- used to make a definite diagnosis
Cardiac catheterization (rarely needed, unless there are concerns of high blood pressure in the lungs)
MRI of the heart -- used to find out how much blood is getting to the lungs
Treatment
If the defect is small, no treatment is usually needed. However, the baby should be closely monitored by
a health care provider to make sure that the hole eventually closes properly and signs of heart failure do
not occur.
Babies with a large VSD who have symptoms related to heart failure may need medicine to control the
symptoms and surgery to close the hole. Medications may include digitalis (digoxin) and diuretics.
If symptoms continue despite medication, surgery to close the defect with a Gore-tex patch is needed.
Some VSDs can be closed with a special device during a cardiac catheterization, although this is
infrequently done.
Surgery for a VSD with no symptoms is controversial. This should be carefully discussed with your
health care provider.
Outlook (Prognosis)
Many small defects will close on their own. For those defects that do not spontaneously close, the
outcome is good with surgical repair. Complications may result if a large defect is not treated.
Possible Complications
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Heart failure
Infective endocarditis (bacterial infection of the heart)
Aortic insufficiency (leaking of the valve that separates the left ventricle from the aorta)
Damage to the electrical conduction system of the heart during surgery (causing arrhythmias)
Delayed growth and development (failure to thrive in infancy)
Pulmonary hypertension (high blood pressure in the lungs) leading to failure of the right side of the
heart
When to Contact a Medical Professional
Most often, this condition is diagnosed during routine examination of an infant. Call your infant's health
care provider if the baby seems to be having difficulty breathing, or if the baby seems to have an unusual
number of respiratory infections.
Prevention
Except for the case of heart attack associated VSD, this condition is always present at birth.
Drinking alcohol and using the antiseizure medicines depakote and dilantin during pregnancy have been
associated with increased incidence of VSDs. Other than avoiding these things during pregnancy, there
is no known way to prevent a VSD.
Atrial septal defect
Atrial septal defect (ASD) is a congenital heart defect in which the wall that separates the upper heart
chambers (atria) does not close completely. Congenital means the defect is present at birth.
Causes
In fetal circulation, there is normally an opening between the two atria (the upper chambers of the heart) to
allow blood to bypass the lungs. This opening usually closes around the time the baby is born.
If the ASD is persistent, blood continues to flow from the left to the right atria. This is called a shunt. If
too much blood moves to the right side of the heart, pressures in the lungs build up. The shunt can be
reversed so that blood flows from right to left. Many problems can occur if the shunt is large, but small
atrial septal defects often cause very few problems and may be found much later in life.
ASD is not very common. When the person has no other congenital defect, symptoms may be absent,
particularly in children. Symptoms may begin any time after birth through childhood. Individuals with
ASD are at an increased risk for developing a number of complications including:
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Atrial fibrillation (in adults)
Heart failure
Pulmonary overcirculation
Pulmonary hypertension
Stroke
Symptoms
Small to moderate sized defects may produce no symptoms, or not until middle age or later. Symptoms
that may occur can include:
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Difficulty breathing (dyspnea)
Frequent respiratory infections in children
Sensation of feeling the heart beat (palpitations) in adults
Shortness of breath with activity
Exams and Tests
The doctor may hear abnormal heart sounds when listening to the chest with a stethoscope. A murmur
may be heard only in certain body positions, and sometimes a murmur may not be heard at all. The
physical exam may also reveal signs of heart failure in some adults.
If the shunt is large, increased blood flow across the tricuspid valve may create an additional murmur
when the heart relaxes between beats.
Tests that may done include:
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Cardiac catheterization
Chest x-ray
Coronary angiography (for patients over 35 years old)
Doppler study of the heart
ECG
Echocardiography
Heart MRI
Transesophageal echocardiography (TEE)
Treatment
ASD may not require treatment if there are few or no symptoms, or if the defect is small. Surgical closure
of the defect is recommended if the defect is large, the heart is swollen, or symptoms occur.
A procedure has been developed to close the defect without surgery. The procedure involves placing an
ASD closure device into the heart through tubes called catheters. The health care provider makes a tiny
surgical cut in the groin, then inserts the catheters into a blood vessel and up into the heart. The closure
device is then placed across the ASD and the defect is closed.
Not all patients with atrial septal defects can have this procedure.
Prophylactic (preventive) antibiotics should be given prior to dental procedures to reduce the risk of
developing infective endocarditis immediately after surgery for the ASD, but they are not required later
on.
Outlook (Prognosis)
With a small to moderate atrial septal defect, a person may live a normal life span without symptoms.
Larger defects may cause disability by middle age because of increased blood flow and shunting of blood
back into the pulmonary circulation.
Possible Complications
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Arrhythmias, particularly atrial fibrillation
Heart failure
Pulmonary hypertension
Stroke
When to Contact a Medical Professional
Call your health care provider if symptoms indicating an atrial septal defect develop.
Prevention
There is no known way to prevent the defect, but some of the complications can be prevented with early
detection.
 Patent ductus arteriosus
Patent ductus arteriosus (PDA) is a condition in which a blood vessel called the ductus arteriosus fails to
close normally in an infant soon after birth. (The word "patent" means open.)
The condition leads to abnormal blood flow between the aorta and pulmonary artery, two major blood
vessels that carry blood from the heart.
Causes
Before birth, the ductus arteriosus allows blood to bypass the baby's lungs by connecting the pulmonary
arteries (which supply blood to the lungs) with the aorta (which supplies blood to the body). Soon after the
infant is born and the lungs fill with air, this blood vessel is no longer needed. It will usually close within a
couple of days. If the ductus arteriosus does not close, there will be abnormal blood circulation between
the heart and lungs.
PDA affects girls more often than boys. The condition is more common in premature infants and those
with neonatal respiratory distress syndrome. Infants with genetic disorders, such as Down syndrome, and
whose mothers had rubella during pregnancy are at higher risk for PDA.
PDA is common in babies with congenital heart problems, such as hypoplastic left heart syndrome,
transposition of the great vessels, and pulmonary stenosis.
Symptoms
A small PDA may not cause any symptoms. However, some infants may not tolerate a PDA, especially if
it is large, and may have symptoms such as:
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Bounding pulse
Fast breathing
Poor feeding habits
Shortness of breath
Sweating while feeding
Tiring very easily
Poor growth
Exams and Tests
Babies with PDA often have a characteristic heart murmur that can be heard with a stethoscope. However,
in premature infants, a heart murmur may not be heard. Doctor's may suspect the condition if the infant
has breathing or feeding problems soon after birth.
Changes may be seen on chest x-rays. The diagnosis is confirmed with an echocardiogram.
Sometimes, a small PDA may not be diagnosed until later in childhood.
Treatment
The goal of treatment, if the rest of circulation is normal or close to normal, is to close the PDA. In the
presence of certain other heart problems, such as hypoplastic left heart syndrome, the PDA may actually
be lifesaving and medicine may be used to prevent it from closing.
Sometimes, a PDA may close on its own. Premature babies have a high rate of closure within the first 2
years of life. In full-term infants, a PDA rarely closes on its own after the first few weeks.
When treatment is appropriate, medications such as indomethacin or a special form of ibuprofen are
generally the first choice.
If these measures do not work or can't be used, a medical procedure may be needed.
A transcatheter device closure is a minimally invasive procedure that uses a thin, hollow tube. The doctor
passes a small metal coil or other blocking device through the catheter to the site of the PDA. This blocks
blood flow through the vessel. Such endovascular coils have been used successfully as an alternative to
surgery.
Surgery may be needed if the catheter procedure does not work or cannot be used. Surgery involves
making a small cut between the ribs to repair the PDA.
Outlook (Prognosis)
If a small PDA remains open, heart symptoms may or may not eventually develop. Persons with a
moderate or large PDA could eventually develop heart problems unless the PDA is closed.
Closure with medications can work very well in some situations, with few side effects. Early treatment
with medications is more likely to be successful.
Surgery carries its own significant risks. It may eliminate some of the problems of a PDA, but it can also
introduce a new set of problems. The potential benefits and risks should be weighed carefully before
choosing surgery.
Possible Complications
If the patent ductus is not closed, the infant has a risk of developing heart failure,
pulmonary artery hypertension, or infective endocarditis -- an infection of the inner lining of
the heart.
When to Contact a Medical Professional
This condition is usually diagnosed by a doctor examining your infant. Breathing and
feeding problems in an infant can occasionally be due to an undiagnosed PDA.
Prevention
Preventing preterm deliveries, where possible, is the most effective way to prevent
PDA.
Aortic stenosis
The aorta is the main artery leaving the heart. When blood leaves the heart, it flows
from the lower chamber (the left ventricle), through the aortic valve, into the aorta. In aortic
stenosis, the aortic valve does not open fully. This restricts blood flow.
Causes
As the aortic valve becomes more narrow, the pressure increases inside the left heart
ventricle. This causes the left heart ventricle to become thicker, which decreases blood flow
and can lead to chest pain. As the pressure continues to rise, blood may back up into the lungs,
and you may feel short of breath. Severe forms of aortic stenosis prevent enough blood from
reaching the brain and rest of the body. This can cause lightheadedness and fainting.
Aortic stenosis may be present from birth (congenital), or it may develop later in life
(acquired). Children with aortic stenosis may have other congenital conditions.
In adults, aortic stenosis occurs most commonly in those who've had rheumatic fever,
a condition that may develop after strep throat or scarlet fever. Valve problems do not develop
for 5 - 10 years after rheumatic fever occurs. Rheumatic fever is increasingly rare in the United
States.
Only rarely do other factors lead to aortic stenosis in adults. These include calcium
deposits forming around the aortic valve, radiation treatment to the chest, and some
medications.
Aortic stenosis is not common. It occurs more often in men than in women.
Symptoms
People with aortic stenosis may have no symptoms at all until late in the course of the
disease. The diagnosis may have been made when the healthcare provider heard a heart
murmur and then performed additional tests.
Symptoms of aortic stenosis include:
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Breathlessness with activity
Chest pain, angina-type
Crushing, squeezing, pressure, tightness
Pain increases with exercise, relieved with rest
Under the chest bone, may move to other areas
Fainting, weakness, or dizziness with activity
Sensation of feeling the heart beat (palpitations)
In infants and children, symptoms include:
Becoming tired or fatigued with exertion more easily than others (in mild cases)
Serious breathing problems that develop within days or weeks of birth (in severe
cases)
Children with mild or moderate aortic stenosis may get worse as they get older. They
also run the risk of developing a heart infection (bacterial endocarditis).
Exams and Tests
The health care provider will be able to feel a vibration or movement when placing a
hand over the person's heart. A heart murmur, click, or other abnormal sound is almost always
heard through a stethoscope. There may be a faint pulse or changes in the quality of the pulse in
the neck (this is called pulsus parvus et tardus).
Infants and children with aortic stenosis may be extremely tired, sweaty, and have
pale skin and fast breathing. They may also be smaller than other children their age.
Blood pressure may be low.
The following tests may be performed:
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Chest x-ray
Doppler echocardiography
ECG
Exercise stress testing
Left cardiac catheterization
MRI of the heart
Transesophageal echocardiogram (TEE)
Treatment
If there are no symptoms or symptoms are mild, you may only need to be monitored
by a health care provider.
Patients with aortic stenosis are usually told not to play competitive sports, even if
they don't have symptoms. If symptoms do occur, strenuous activity must be limited.
Medications are used to treat symptoms of heart failure or abnormal heart rhythms
(most commonly atrial fibrillation). These include diuretics (water pills), nitrates, and betablockers. High blood pressure should also be treated.
Patients should stop smoking and be treated for high cholesterol.
People with aortic stenosis should see a cardiologist every 3 to 6 months.
Surgery to repair or replace the valve is the preferred treatment for adults or children
who develop symptoms. Even if symptoms are not very bad, the doctor may recommend
surgery. People with no symptoms but worrisome results on diagnostic tests may also require
surgery.
Some high-risk patients may be poor candidates for heart valve surgery. A less
invasive procedure called balloon valvuloplasty may be done in adults or children instead. This
is a procedure in which a balloon is placed into an artery in the groin, advanced to the heart,
placed across the valve, and inflated. This may relieve the obstruction caused by the narrowed
valve.
Children with mild aortic stenosis may be able to participate in most activities and
sports. As the illness progresses, sports such as golf and baseball may be permitted, but not
more physically demanding activities.
Valvuloplasty is often the first choice for surgery in children. Some children may
require aortic valve repair or replacement. If possible, the pulmonary valve may be used to
replace the aortic valve.
People with aortic stenosis should inform their health care provider of their condition
before any procedures or surgeries. For example, dental work, including cleaning, and any
invasive procedure, such as colonoscopy, can introduce bacteria into the bloodstream. These
bacteria can infect a damaged heart valve. Although patients with valve problems are no longer
automatically given antibiotics before any dental or other procedure, antibiotics may still be
recommended in certain cases to help decrease the risk of infection and complications.
See also:
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Aortic valve surgery - minimally invasive
Aortic valve surgery - open
Heart failure
Outlook (Prognosis)
Without surgery, a person with aortic stenosis who has angina or signs of heart failure
may do poorly.
Aortic stenosis can be cured with surgery. After surgery there is a risk for irregular
heart rhythms, which can cause sudden death, and blood clots, which can cause a stroke. There
is also a risk that the new valve will stop working and need to be replaced.
Possible Complications
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Arrhythmias
Endocarditis
Left-sided heart failure
Left ventricular hypertrophy (enlargement) caused by the extra work of pushing blood through the
narrowed valve
When to Contact a Medical Professional
Call your health care provider if you or your child have symptoms of aortic stenosis.
For example, call if you or your child have a sensation of feeling the heart beat (palpitations)
for more than a short period of time.
Also contact your doctor if you have been diagnosed with this condition and your
symptoms get worse or new ones develop.
Prevention
Treat strep infections promptly to prevent rheumatic fever, which can cause aortic
stenosis. This condition itself often cannot be prevented, but some of the complications can be.
Follow the health care provider's treatment recommendation for conditions that may
cause valve disease. Notify the provider if there is a family history of congenital heart diseases.
Alternative Names
Aortic valve stenosis; Left ventricular outflow tract obstruction; Rheumatic
aortic stenosis; Calcium aortic stenosis
Pulmonary valve stenosis
Pulmonary valve stenosis is a condition in which the flow of blood from the heart
(right ventricle, or lower chamber) is blocked at the valve that separates the heart from the
pulmonary artery (pulmonic valve). This narrowing is usually present at birth (congenital).
Causes
Pulmonary valve stenosis is most often caused by a problem that occurs when the
unborn baby (fetus) is developing. The cause is unknown, but genetics may play a role.
Narrowing that occurs in the pulmonary valve is called pulmonary valve stenosis.
Narrowing that occurs below the pulmonary valve is called subvalvar pulmonary stenosis.
Another form of the condition, supravalvar pulmonary stenosis, is when narrowing occurs
above the main pulmonary valve.
The defect may occur alone. However, it can also occur with other heart defects. The
condition can be mild or severe. It occurs rarely, in only about 10% of patients with congenital
heart disease.
Pulmonary stenosis can also occur later in life as a result of conditions that cause
damage or scarring of the heart valves. These include rheumatic fever, endocarditis, and other
disorders.
Symptoms
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Bluish coloration to the skin (cyanosis) in some patients
Chest pain
Fainting
Fatigue
Poor weight gain or failure to thrive in infants with severe blockage
Shortness of breath
Sudden death
Note: Patients with mild to moderate blockage may not have any symptoms. There
may be no symptoms until the disorder is severe. Symptoms, when present, may get worse with
exercise or activity.
Exams and Tests
The health care provider may hear a heart murmur by stethoscope. Tests used in the
diagnosis of pulmonary stenosis may include:
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Cardiac catheterization
Chest x-ray
ECG
Echocardiogram
MRI of the heart
Treatment
Sometimes, treatment may not be required.
Percutaneous balloon pulmonary dilation (valvuloplasty) using a catheter can be
successful for pulmonary valve stenosis that occurs without other heart defects.
Surgery may be performed to repair the defect.
Medications used before surgery may include:
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Anti-arrhythmics to improve the heart function
Blood thinners to prevent clots
Prostaglandins
Water pills to remove the excess fluid
Outlook (Prognosis)
As a general rule with mild stenosis, one-third of patients get better, one-third stay the
same, and one-third get worse. The outcome is good with successful surgery or cardiac
catheterization. Other congenital heart defects may also be a factor.
Possible Complications
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Cyanosis
Death
Heart failure
Leaking of blood back into the right ventricle (pulmonary regurgitation) after repair
Right ventricular hypertrophy (enlargement)
When to Contact a Medical Professional
Call your health care provider if you have symptoms of pulmonary valve stenosis.
Call your health care provider if you have treated or untreated pulmonary valve
stenosis and you develop swelling (of the ankles or any area), difficulty breathing, or other new
symptoms.
Alternative Names
Valvular pulmonary stenosis; Heart valve pulmonary stenosis
Coarctation of the aorta
Aortic coarctation is a narrowing of part of the aorta (the major artery leading out of
the heart). It is a type of birth defect. Coarctation means narrowing.
Causes
The aorta carries blood from the heart to the vessels that supply the body with blood
and nutrients. If part of the aorta is narrowed, it is hard for blood to pass through the artery.
Aortic coarctation is more common in persons with certain genetic disorders, such as
Turner syndrome. However, it can also be due to birth defects of the aortic valves.
Aortic coarctation is one of the more common heart conditions that are present at birth
(congenital heart conditions). It is usually diagnosed in children or adults under age 40.
Coarctation of the aorta may be seen with other congenital heart defects, such as:
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Bicuspid aortic valve
Defects in which only one ventricle is present
Ventricular septal defect
Symptoms
Symptoms depend on how much blood can flow through the artery. Other heart
defects may also play a role.
Around half of newborns with this problem will have symptoms in the first few days
of life.
In milder cases, symptoms may not develop until the child has reached adolescence.
Symptoms include:
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Dizziness or fainting
Shortness of breath
Pounding headache
Chest pain
Cold feet or legs
Nosebleed
Leg cramps with exercise
High blood pressure (hypertension) with exercise
Decreased ability to exercise
Failure to thrive
Poor growth
Note: There may be no symptoms.
Exams and Tests
The health care provider will perform a physical exam and take your blood
pressure and pulse in your arms and legs.
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The pulse in the femoral (groin) area or feet will be weaker than the pulse in the arms or the carotid
(neck). Sometimes, the femoral pulse may not be felt at all.
The blood pressure in your legs is usually weaker than in the arms. Blood pressure is usually higher
in the arms after infancy.
The doctor will use a stethoscope to listen to your heart and check for murmurs.
People with aortic coarctation have a harsh-sounding murmur that can be heard from
the back. Other types of murmurs may also be present.
Coarctation is often discovered during a newborn's first examination or well-baby
exam. Taking the pulses in an infant is an important part of the examination, because
there may not be any other symptoms or findings until the child is older.
Tests to diagnose this condition may include:
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Echocardiography is the most common test to diagnose this condition,
and it may also be used to monitor the patient after surgery
Chest x-ray
Heart CT may be needed in older children
MRI or MR angiography of the chest may be needed in older children
Cardiac catheterization and aortography
Both Doppler ultrasound and cardiac catheterization can be used to see if there are
any differences in blood pressure in different areas of the aorta.
Treatment
Most newborns with symptoms will have surgery either right after birth or soon
afterward. First they will receive medications to stabilize them.
Children who are diagnosed when they are older will also need surgery. Usually, the
symptoms are not as severe, and more time will be taken to plan for surgery.
During surgery, the narrowed part of the aorta will be removed or opened. If the
problem area is small, the two free ends of the aorta may be re-connected. This is
called anastomosis. If a large part of the aorta is removed, a Dacron graft (a manmade material) or one of the patient's own arteries is used to fill the gap. A tube graft
connecting two parts of the aorta may also be used.
Sometimes, balloon angioplasty may be done instead of surgery, but it has a higher
rate of failure.
Older children usually need medicines to treat high blood pressure after surgery.
Some will need lifelong treatment for this problem.
Outlook (Prognosis)
Coarctation of the aorta can be cured with surgery. Symptoms quickly get better after
surgery.
However, there is an increased risk for death due to heart problems among those who
have had their aorta repaired. Without treatment, most people die before age 40. For
this reason, doctors usually recommend that the patient has surgery before age 10.
Most of the time, surgery to fix the coarctation is done during infancy.
Narrowing or coarctation of the artery can return after surgery. This is more likely in
persons who had surgery as a newborn.
Possible Complications
Complications that may occur before, during, or soon after surgery include:
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Aortic aneurysm
Aortic dissection
Aortic rupture
Bleeding in the brain
Endocarditis (infection in the heart)
Heart failure
Hoarseness caused by injury to the nerve to the larynx
Impaired kidney function
Paralysis of the lower half of the body (rare complication of surgery to repair coarctation)
Premature development of coronary artery disease (CAD)
Severe high blood pressure
Stroke
Long-term complications include:
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Continued narrowing of the aorta
Endocarditis (infection in the heart)
High blood pressure
When to Contact a Medical Professional
Call your health care provider if:
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You or your child has symptoms of coarctation of the aorta
You develop fainting or chest pain (these may be signs of a serious problem)
Prevention
There is no known way to prevent this disorder; however, being aware of your
risk may make early diagnosis and treatment possible.
Alternative Names
Aortic coarctation
Endocardial cushion defect
Endocardial cushion defect (ECD) is an abnormal heart condition in which
there is no separation between the chambers of the heart. Essentially, the
middle part of the heart is missing. It is a congenital heart disease, which
means it is present from birth.
Causes
Endocardial cushion defect occurs while a baby is still growing in the womb.
The endocardial cushions are two areas of thickening that eventually develop
into the wall (septum) that separates the four chambers of the heart. They
also form the mitral and tricuspid valves.
The lack of separation between the two sides of the heart causes several
problems:
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Increased blood pressure in the lungs. In persons with this condition, blood flows through the
abnormal openings from the left to the right side of the heart, then to the lungs. The increased blood
flow into the lungs leads to a rise in blood pressure in the lungs.
Lung irritation and inflammation. Increased blood flow into the lungs causes irritation and swelling.
Heart failure. Because the heart has to pump more blood to the lungs, it has to work much harder
than normal. The heart may enlarge and weaken.
Lack of oxygen. As the blood pressure increases in the lungs, blood flow starts to move from the
right side of the heart to the left. The heart starts pumping oxygen-poor blood throughout the body,
and will have to work harder at it. The body will not get enough oxygen.
There are two types of ECD:
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Complete ECD: A complete ECD involves an atrial septal defect (ASD) and a ventricular septal
defect (VSD). Persons with a complete ECD have only one large heart valve (common AV valve)
instead of two distinct valves (mitral and tricuspid).
Partial (or incomplete) ECD: Only an ASD is present. There are two distinct valves, but one of them
(the mitral valve) is often abnormal with an opening ("cleft") in it, letting blood leak between the
two left chambers of the heart.
ECD is strongly associated with Down syndrome. Several gene changes are
also connected to ECD. However, the exact cause of ECD is unknown.
ECD may be associated with other congenital heart defects such as:
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Double outlet right ventricle
Single ventricle
Transposition of the great vessels
Tetralogy of Fallot
Symptoms
Symptoms of ECD may include:
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Baby tires easily
Bluish skin color (the lips may also be blue)
Failure to gain weight and grow
Frequent pneumonia
Lack of appetite
Pale skin (pallor)
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Rapid breathing
Rapid heartbeat
Sweating
Swollen legs or abdomen (rare in children)
Trouble breathing, especially during feeding
Exams and Tests
Signs of ECD may include:
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An abnormal electrocardiogram (ECG)
An enlarged heart
Heart murmur
High blood pressure in the lungs
Children with partial ECD, who have only a small VSD and normal valves,
may not have signs or symptoms of the disorder during childhood.
Tests to diagnose ECD include:
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Ultrasound of the heart (echocardiogram) to see blood flow
An electrocardiogram (ECG), which measures the electrical activity in the heart
Chest x-ray, which may show an enlarged heart
Magnetic resonance imaging (MRI) of the heart, which provides a detailed image of the heart
through the use of powerful magnets
Cardiac catheterization (in some cases), a procedure in which a thin tube (catheter) is placed into the
heart to see blood flow and take accurate measurements of blood pressure and oxygen levels
Treatment
Surgery is needed to close the holes between the heart chambers, and build
new tricuspid and mitral valves. The timing of the surgery depends on your
child's condition and the severity of the ECD, but it can usually be done when
the baby is about 3 months old. Correcting an ECD may require more than
one surgery.
Your doctor may prescribe medication before surgery if the ECD has made
your baby very sick. The medicines will help the child gain weight and
strength before surgery. Medications may include:
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Diuretics (water pills)
Drugs that make the heart contract more forcefully (inotropic agents), such as digoxin
Surgery for a complete ECD should be done as early in the baby's first year of
life as possible, before irreversible lung damage occurs. Babies with Down
syndrome tend to develop lung disease earlier, and therefore early surgery is
very important for these babies.
See also: Congenital heart defect corrective surgery
Outlook (Prognosis)
How well your baby does depends on the severity of the ECD, the child's
overall health, and whether lung disease has already developed. Many
children live normal, active lives after the ECD is corrected.
Possible Complications
Complications from ECD may include:
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Congestive heart failure
Death
Eisenmenger syndrome
High blood pressure in the lungs
Irreversible damage to the lungs
Certain complications of ECD surgery may not appear until the child is an
adult. These include heart rhythm problems and a leaky mitral valve.
All children with congenital heart disease should take antibiotics before dental
treatment. This helps prevent complications related to heart infections.
When to Contact a Medical Professional
Call your health care provider if your child seems to tire easily, has trouble
breathing, or has bluish skin or lips. You should also consult your health care
provider if your baby is not growing or gaining weight.
Prevention
ECD is associated with several genetic abnormalities. Couples with a family
history of ECD may wish to seek genetic counseling before becoming
pregnant.
Alternative Names
Atrioventricular (AV) canal defect; Atrioventricular septal defect; AVSD