Congenital heart disease

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001114.htm

Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development before birth. Congenital means present at birth.

Causes
Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common type of birth defect. Congenital heart disease is responsible for more deaths in the first year of life than any other birth defects. Many of these defects need to be followed carefully. Some heal over time, others will require treatment. Congenital heart disease is often divided into two types: cyanotic (blue discoloration caused by a relative lack of oxygen) and non-cyanotic. The following lists cover the most common of the congenital heart diseases: Cyanotic:

Tetralogy of Fallot Transposition of the great vessels Tricuspid atresia Total anomalous pulmonary venous return Truncus arteriosus Hypoplastic left heart Pulmonary atresia Some forms of total anomalous pulmonary venous return Ebstein's anomaly

Non-cyanotic:

Ventricular septal defect (VSD) Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Aortic stenosis Pulmonic stenosis Coarctation of the aorta Atrioventricular canal (endocardial cushion defect)

These problems may occur alone or together. The majority of congenital heart diseases occurs as an isolated defect and is not associated with other diseases. However, they can

also be a part of various genetic and chromosomal syndromes such as Down syndrome, trisomy 13, Turner syndrome, Marfan syndrome, Noonan syndrome, and DiGeorge syndrome. No known cause can be identified for most congenital heart defects. Congenital heart diseases continue to be investigated and researched. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems.

Symptoms
Symptoms depend on the specific condition. While congenital heart disease is present at birth, the symptoms may not be immediately obvious. Defects such as coarctation of the aorta may not cause problems for many years. Other problems, such as a small ventricular septal defect (VSD), may never cause any problems, and some people with a VSD have normal physical activity and a normal life span.

Exams and Tests

Diagnostic tests depend on the specific condition.

Treatment
Treatment depends on the specific condition. Some congenital heart diseases can be treated with medication alone, while others require one or more surgeries.

Outlook (Prognosis)
How well a patient does depends on the specific defect.

Possible Complications
Complications depend on the specific condition and treatment.

When to Contact a Medical Professional

Call your health care provider if you suspect that your child has a heart problem.

Prevention
Avoid alcohol and other drugs during pregnancy. Doctors should be made aware that a woman is pregnant before prescribing any medications for her. A blood test should be done early in the pregnancy to see if the woman is immune to rubella. If the mother is not

immune, she must avoid any possible exposure to rubella and should be immunized immediately following delivery. Poorly controlled blood sugar levels in women who have diabetes during pregnancy are also associated with a high rate of congenital heart defects during pregnancy. Experts believe that some prescription and over-the-counter medications and street drugs used during pregnancy increase the risk of heart defects. There may be some hereditary factors that play a role in congenital heart disease. Genetics does appear to play a role in many diseases, and multiple family members may be affected. Talk to your health care provider about screening. Expectant mothers should receive good prenatal care. Many congenital defects can be discovered on routine ultrasound examinations performed by an obstetrician. The delivery can then be anticipated and the appropriate medical personnel (such as a pediatric cardiologist, a cardiothoracic surgeon, and a neonatologist) can be present, and ready to help as necessary. Such preparation can mean the difference between life and death for some babies.

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007

Tetralogy of Fallot
URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001567.htm

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:

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:

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

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:

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

Delayed growth and development Irregular heart rhythms (arrhythmias) Seizures during periods when there is not enough oxygen Death

When to Contact a Medical Professional

Call your health care provider if new unexplained symptoms develop or the patient is having an episode of cyanosis (blue skin). If a child with tetralogy of Fallot becomes blue, immediately place the child on his or her side or back and put the knees up to the chest. Calm the baby and seek medical attention immediately.

Prevention
There is no known prevention.

Alternative Names
Tet; TOF

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.

Ventricular septal defect

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001099.htm

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, the baby often has symptoms related to heart failure. The most common symptoms include:

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:

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

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.

Alternative Names
VSD; Interventricular septal defect

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. St. Louis, Mo: WB Saunders; 2007.

Transposition of the great vessels

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001568.htm

Transposition of the great vessels is a congenital heart defect in which the two major vessels that carry blood away from the heart -- the aorta and the pulmonary artery -- are switched (transposed).

Causes
The cause of most congenital heart defects is unknown. Factors in the mother that may increase the risk of this condition include:

Age over 40 Alcoholism Diabetes Poor nutrition during pregnancy (prenatal nutrition) Rubella or other viral illness during pregnancy

Transposition of the great vessels is a cyanotic heart defect. This means there is decreased oxygen in the blood that is pumped from the heart to the rest of the body. Low blood oxygen leads to cyanosis (a bluish-purple color to the skin) and shortness of breath. In normal hearts, blood that returns from the body goes through the right side of the heart and pulmonary artery to the lungs to get oxygen. The blood then comes back to the left side of the heart and travels out the aorta to the body. In transposition of the great vessels, the blood goes to the lungs, picks up oxygen, and then goes right back to the lungs without ever going to the body. Blood from the body returns to the heart and goes back to the body without ever picking up oxygen in the lungs. Symptoms appear at birth or very soon afterward. How bad the symptoms are depends on the type and size of heart defects (such as atrial septal defect or patent ductus arteriosus) and how much oxygen moves through the body's general blood flow. The condition is the second most common cyanotic heart defect.

Symptoms

Blueness of the skin

Clubbing of the fingers or toes Poor feeding Shortness of breath

Exams and Tests

The health care provider may detect a heart murmur while listening to the chest with a stethoscope. The baby's mouth and skin will be a blue color. Tests often include the following:

Cardiac catheterization Chest x-ray ECG Echocardiogram (if done before birth, it is called a fetal echocardiogram) Pulse oximetry (to check blood oxygen level)

Treatment
The baby will immediately receive a medicine called prostaglandin through an IV (intravenous line). This medicine helps keep the ductus arteriosus open, allowing some mixing of the two blood circulations. A procedure using cardiac catheterization (balloon atrial septostomy) may be needed to create a large hole in the atrial septum to allow blood to mix. A surgery called an arterial switch procedure is used to permanently correct the problem within the baby's first week of life. This surgery switches the great arteries back to the normal position and keeps the coronary arteries attached to the aorta.

Outlook (Prognosis)
The child's symptoms will improve after surgery to correct the defect. Most infants who undergo arterial switch do not have symptoms after surgery and live normal lives. If corrective surgery is not performed, the life expectancy is months.

Possible Complications

Arrhythmias Coronary artery problems Heart valve problems

When to Contact a Medical Professional

This condition can be diagnosed before birth using a fetal echocardiogram. If not, it is usually diagnosed soon after a baby is born. Go to the emergency room or call the local emergency number (such as 911) if your baby's skin develops a bluish color, especially in the face or trunk. Call your health care provider if your baby has this condition and new symptoms develop, get worse, or continue after treatment.

Prevention
Women who plan to become pregnant should be immunized against rubella if they are not already immune. Eating well, avoiding alcohol, and controlling diabetes both before and during pregnancy may be helpful.

Alternative Names
Transposition of the great arteries; TGA; d-TGA

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.

Tricuspid atresia
URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001110.htm

Tricuspid atresia is a type of congenital heart disease in which the tricuspid heart valve is missing or abnormally developed. The defect blocks blood flow from the right atrium to the right ventricle.

Causes
Tricuspid atresia is an uncommon form of congenital heart disease that affects about 5 in every 100,000 live births. Twenty percent of patients with this condition will also have have other heart problems. Normally, blood flows from the body into the right atrium, then through the tricuspid valve to the right ventricle and on to the lungs. If the tricuspid valve does not open, the

blood cannot flow from the right atrium to the right ventricle. Blood ultimately cannot enter the lungs, where it must go to pick up oxygen (become oxygenated). Infants with tricuspid atresia generally are cyanotic (bluish discoloration of skin) and easily become short of breath.

Symptoms

Cyanosis (bluish discoloration of the skin) Easily fatigued Shortness of breath (dyspnea) Fast breathing Poor growth

Exams and Tests

This condition may be discovered during routine prenatal ultrasound imaging or when the baby is examined shortly after birth. Cyanosis is present from birth. A heart murmur is often present at birth and may increase in loudness over several months. Tests may include the following:

ECG Echocardiogram Chest x-ray Cardiac catheterization MRI of the heart

Treatment
Once the diagnosis is made, the baby will be admitted to the neonatal intensive care unit (NICU). A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to maintain circulation of blood to the lungs. The condition always requires surgery. If the heart is unable to pump enough blood out to the lungs and rest of the body, the first surgery usually occurs within the first few days of life. In this procedure, an artificial shunt is inserted to maintain blood flow to the lungs. In some cases, this first surgery is not necessary. Afterwards, the baby usually goes home. The child will need to take one or more daily medicines and be closely followed by a pediatric cardiologist, who will determine when the second stage of surgery should be done. Stage II of the operation is called the Glenn shunt or Hemifontan procedure. This procedure connects half of the veins carrying blue blood from the upper half of the body

directly to the pulmonary artery. The surgery is usually done when the child is between 4 - 6 months of age. During stage I and II, the child may still appear somewhat blue (cyanotic). Stage III, the final step, is called the Fontan procedure. The remainder of the veins carrying blue blood from the body is connected directly to the pulmonary artery leading to the lungs, and the left ventricle now only has to pump to the body and no longer the lungs. This surgery is usually performed between the ages of 18 months and 3 years of age. After this final step, the baby is no longer blue (cyanotic). Some patients may need more surgeries in their 20s or 30s if they develop hard to control arrhythmias or other complications of the Fontan procedure. In a few hospitals, heart transplantation is considered to be a better alternative to the 3step surgery process, but there are few donated hearts available for small infants.

Outlook (Prognosis)
Improvement can be expected with most surgical procedures. Unexpected death may occur with heart arrhythmias.

Possible Complications

Irregular, fast heart rhythms (arrhythmias) Chronic diarrhea (from a disease called protein loosing enteropathy) Heart failure Fluid in the abdomen (ascites) and in the lungs (pleural effusion) Blockage of the artificial shunt Strokes and other neurological complications Sudden death

When to Contact a Medical Professional

If your infant has new changes in breathing patterns, eats less (decreased feeing), or has skin or mucous membranes that are turning blue (cyanotic), contact your health care provider immediately.

Prevention
There is no known way to prevent tricuspid atresia.

Alternative Names

Tri atresia

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.

Update Date: 12/21/2009

Total anomalous pulmonary venous return

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001115.htm

Total anomalous pulmonary venous return is a congenital heart disease (present at birth) in which none of the four veins that take blood from the lungs to the heart is attached to the left atrium (left upper chamber of the heart).

Causes
The cause of total anomalous pulmonary venous return (TAPVR) is unknown. In normal circulation, blood is sent from the right ventricle to pick up oxygen in the lungs. It then returns through the pulmonary veins to the left side of the heart, which sends blood out through the aorta, and around the body. In TAPVR, oxygenated blood returns from the lungs back to the right atrium or a vein flowing into the right atrium and NOT to the left side of heart. In other words, blood simply circles to and from the lungs and never gets out to the body. If the infant is to live, a large atrial septal defect (ASD) or patent foramen ovale (passage between the left and right atria) must exist to allow oxygenated blood to flow to the left side of the heart and rest of the body. The severity of this condition depends on whether the pulmonary veins are obstructed. Most often in obstructed TAVPR, the pulmonary veins run into the abdomen, passing through a muscle (diaphragm). This muscle squeezes the veins and narrows them, causing the blood to back up into the lungs. This type causes symptoms early in life and can be rapidly deadly if not recognized and surgically corrected.

Symptoms
The infant may appear to be critically ill and may display the following symptoms:

Lethargy Poor feeding Rapid breathing Poor growth Frequent respiratory infections Cyanosis (blue discoloration of the skin)

Note: Sometimes, no symptoms may be present in infancy or early childhood.

Exams and Tests

ECG shows signs of enlargement of the ventricles (ventricular hypertrophy). X-ray of the chest shows a normal to small heart with fluid in the lungs. Echocardiogram usually defines the attachment of pulmonary vessels. Cardiac catheterization can provide definitive diagnosis by showing abnormal attachments of the blood vessels. MRI of the heart can show the connections between the pulmonary vessels.

Treatment
Early complete surgical repair is needed. In surgery, the pulmonary veins are connected to the left atrium and the defect between the right and left atrium is closed.

Outlook (Prognosis)
If left untreated, death may occur by age 1 in babies with more severe defects. With surgery, early repair provides excellent results if there is no blockage of the pulmonary veins at the new connection into the heart.

Possible Complications

Heart failure Breathing difficulties Lung infections Pulmonary hypertension Irregular, fast heart rhythms (arrhythmias)

When to Contact a Medical Professional

This condition may be apparent at the time of birth. However, symptoms may not be present until later. Call your health care provider if you notice symptoms of TAPVR -- prompt attention is required.

Prevention
There is no known way to prevent TAPVR.

Alternative Names
TAPVR

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007

Truncus arteriosus
URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001111.htm

Truncus arteriosus is a rare type of congenital heart disease in which a single blood vessel (truncus arteriosus) comes out of the right and left ventricles, instead of the normal two (pulmonary artery and aorta). There are different types of truncus arteriosus, depending on the anatomy of the single vessel.

Causes
In normal circulation, the pulmonary artery comes out of the right ventricle and the aorta comes out of the left ventricle, which are separate from each other. Coronary arteries (which supply blood to the heart muscle) come out of the aorta just above the valve at the entrance of the aorta. In truncus arteriosus, a single artery comes out of the ventricles. There is usually also a large hole between the two ventricles (ventricular septal defect). As a result, the blue (without oxygen) and red (oxygen-rich) blood mix.

Some of this mixed blood goes to the lungs, some goes to the coronary arteries, and the rest goes to the body. Usually, too much blood is sent to the lungs. If left untreated, two problems occur:

Too much blood circulation in the lungs may cause extra fluid to build up in and around them, making it difficult to breathe. The blood vessels to the lungs become permanently damaged. Over time, it becomes very hard for the heart to force blood to them. This is called pulmonary hypertension and it can be life-threatening.

Symptoms

Bluish skin (cyanosis) Delayed growth or growth failure Fatigue Lethargy Poor feeding Rapid breathing (tachypnea) Shortness of breath (dyspnea) Widening of the finger tips (clubbing)

Exams and Tests

A murmur is usually heard when listening to the heart with a stethoscope. Tests include:

ECG Echocardiogram Heart catheterization (only needed in rare cases to help with the diagnosis or in planning a treatment strategy) MRI of the heart X-ray of the chest

Treatment
Surgery is needed to treat this condition. Two procedures are available. One treatment involves banding the pulmonary arteries coming off the truncus to limit the amount of blood that can flow through them. However, this procedure is rarely used anymore.

The other procedure is called complete repair. Complete repair appears to be the preferred option.

Outlook (Prognosis)
Complete repair usually provides good results. Another procedure may be needed as the patient grows. Untreated cases result in death, often during the first year of life.

Possible Complications

Heart failure High blood pressure in the lungs (pulmonary hypertension) with pulmonary obstructive lung disease

When to Contact a Medical Professional

Call your health care provider if your infant or child:

Appears lethargic Appears overly tired or mildly short of breath Does not eat well Does not seem to be growing or developing normally

If the skin, lips, or nail beds look blue or if the child seems to be very short of breath, take the child to the emergency room or have the child examined promptly.

Prevention
There is no known prevention, but early treatment can often prevent serious complications.

Alternative Names
Truncus

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.

Hypoplastic left heart syndrome

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001106.htm

Hypoplastic left heart syndrome occurs when parts of the left side of the heart (mitral valve, left ventricle, aortic valve, and aorta) do not develop completely. The condition is congenital (present at birth).

Causes
Hypoplastic left heart is a rare type of congenital heart disease. It is more common in males than in females. As with most congenital heart defects, there is no known cause. Approximately 10% of patients with hypoplastic left heart syndrome also have other birth defects. The problem develops before birth when there is not enough growth of the left ventricle and other structures, including the:

Aorta -- the blood vessel that carries oxygen-rich blood from the left ventricle to the entire body Entrance and exit of the ventricle Mitral and aortic valves

This causes the left ventricle and aorta to be incompletely developed, or hypoplastic. In most cases, the left ventricle and aorta are much smaller than normal. In patients with this condition, the left side of the heart is unable to send enough blood to the body. As a result, the right side of the heart must maintain the circulation for both the lungs and the body. The right ventricle can support the circulation to both the lungs and the body for a while, but this extra workload eventually causes the right side of the heart to fail. The only possibility of survival is a connection between the right and the left side of the heart, or between the arteries and pulmonary arteries (the blood vessels that carry blood to the lungs). Babies are normally born with two of these connections:

Foramen ovale (a hole between the right and left atrium) Ductus arteriosus (a small blood vesel that connects the aorta to the pulmonary artery)

Both of these connections normally close on their own a few days after birth. In babies with hypoplastic left heart syndrome, blood from the right side of the heart travels through the ductus arteriosus. This is the only way for blood to get to the body. If the ductus arteriosus is allowed to close in a baby with hypoplastic left heart syndrome,

the patient may quickly die because no blood will be pumped to the body. Babies with known hypoplastic left heart syndrome are usually started on a medicine to keep the ductus arteriosus open. Because there is little or no flow out of the left heart, blood returning to the heart from the lungs needs to pass through the foramen ovale or an atrial septal defect (a hole connecting the collecting chambers on the left and right sides of the heart) back to the right side of the heart. If there is no foramen ovale, or if it is too small, the baby could die. Patients with this problem have the hole between their atria opened, either with surgery or using heart catheterization.

Symptoms
At first, a newborn with hypoplastic left heart may appear normal. Symptoms usually occur in the first few hours of life, although it may take up to a few days to develop symptoms. These symptoms may include:

Bluish (cyanosis) or poor skin color Cold hands and feet (extremities) Lethargy Poor pulse Poor suckling and feeding Pounding heart Rapid breathing Shortness of breath

In healthy newborns, bluish color in the hands and feet is a response to cold (this reaction is called peripheral cyanosis). However, a bluish color in the chest or abdomen, lips, and tongue is abnormal (called central cyanosis). It is a sign that there is not enough oxygen in the blood. Central cyanosis often increases with crying.

Exams and Tests

A physical exam may show signs of heart failure:

Faster than normal heart rate Lethargy Liver enlargement Rapid breathing

Also, the pulse at various locations (wrist, groin, and others) may be very weak. There are usually (but not always) abnormal heart sounds when listening to the chest.

Tests may include:

Cardiac catheterization ECG Echocardiogram X-ray of the chest

Treatment
Once the diagnosis of hypoplastic left heart is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by keeping the ductus arteriosus open. These measures do not solve the problem. The condition always requires surgery. The first surgery, called the Norwood operation, occurs within the baby's first few days of life. Stage I of the Norwood procedure consists of building a new aorta by:

Using the pulmonary valve and artery Connecting the hypoplastic old aorta and coronary arteries to the new aorta Removing the wall between the atria (atrial septum) Making an artificial connection from either the right ventricle or a body-wide artery to the pulmonary artery to maintain blood flow to the lungs (called a shunt)

Afterwards, the baby usually goes home. The child will need to take daily medicines and be closely followed by a pediatric cardiologist, who will determine when the second stage of surgery should be done. Stage II of the operation is called the Glenn shunt or hemi-Fontan procedure. This procedure connects the major vein carrying blue blood from the top half of the body (the superior vena cava) directly to blood vessels to the lungs (pulmonary arteries) to get oxygen. The surgery is usually done when the child is 4 to 6 months of age. During stages I and II, the child may still appear somewhat blue (cyanotic). Stage III, the final step, is called the Fontan procedure. The rest of the veins that carry blue blood from the body (the inferior vena cava) are connected directly to the blood vessels to the lungs. The right ventricle now serves only as the pumping chamber for the body (no longer the lungs and the body). This surgery is usually performed when the baby is 18 months - 3 years old. After this final step, the baby is no longer blue. Some patients may need more surgeries in their 20s or 30s if they develop hard to control arrhythmias or other complications of the Fontan procedure.

In some hospitals, heart transplantation is considered a better choice than the three-step surgery process. However, there are few donated hearts available for small infants.

Outlook (Prognosis)
If left untreated, hypoplastic left heart syndrome is fatal. Survival rates for the staged repair continue to rise as surgical techniques and postoperative management improve. Survival after the first stage is more than 75%. The size and function of the right ventricle are important in determining the child's outcome after surgery.

Possible Complications
Complications include:

Blockage of the artificial shunt Chronic diarrhea (from a disease called protein losing enteropathy) Fluid in the abdomen (ascites) and in the lungs (pleural effusion) Heart failure Irregular, fast heart rhythms (arrhythmias) Strokes and other neurological complications Sudden death

When to Contact a Medical Professional

Contact your health care provider immediately if your infant:

Eats less (decreased feeding) Has blue (cyanotic) skin or mucus membranes Has new changes in breathing patterns

Prevention
There is no known prevention for hypoplastic left heart syndrome. As with many congenital diseases, the causes of hypoplastic left heart syndrome are uncertain and have not been linked to a mother's disease or behavior.

Alternative Names
HLHS

References

Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. St. Louis, Mo: WB Saunders; 2007.

Ebstein's anomaly
URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/007321.htm

Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The tricuspid valve separates the right lower heart chamber (right ventricle) from the right upper heart chamber (right atrium). The condition is congenital, which means it is present from birth. See also:

Atrial septal defect Congenital heart disease

Causes
The tricuspid valve is normally made of three parts, called leaflets or flaps. The leaflets open to allow blood to move from the right atrium (top chamber) to the right ventricle (bottom chamber) while the heart relaxes. They close to prevent blood from moving from the right ventricle to the right atrium while the heart pumps. In persons with Ebstein's anomaly, the leaflets are unusually deep in the right ventricle. The leaflets are often larger than normal. The defect usually causes the valve to work poorly, and blood may go the wrong way back into the right atrium. The backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, blood can't get out of the heart into the lungs and the person may appear blue. In most cases, patients also have a hole in the wall separating the heart's two upper chambers and blood flow across this hole may cause oxygen-poor blood to go to the body. There may be narrowing of the valve that leads to the lungs (pulmonary valve). Ebstein's anomaly occurs as a baby develops in the womb. The exact cause is unknown, although the use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition is rare. It is more common in white people.

Symptoms

Symptoms range from mild to very severe. Often, symptoms develop soon after birth and include bluish-colored lips and nails due to low blood oxygen levels. In severe cases, the baby appears very sick and has trouble breathing. Symptoms in older children may include:

Cough Failure to grow Fatigue Rapid breathing Shortness of breath Very fast heartbeat

Exams and Tests

Newborns who have a severe leakage across the tricuspid valve will have very low levels of oxygen in their blood and significant heart swelling. The doctor may hear abnormal heart sounds, such as murmur, when listening to the chest with a stethoscope. Tests that can help diagnose this condition include:

Chest x-ray Magnetic resonance imaging (MRI) of the heart Measurement of the electrical activity of the heart (EKG) Ultrasound of the heart (echocardiogram)

Treatment
Treatment depends on the severity of the defect and the specific symptoms. Medical care may include:

Medications to help with heart failure Oxygen and other breathing support Surgery to correct the valve may be needed for children who continue to worsen or who have more serious complications

Outlook (Prognosis)
In general, the earlier symptoms develop, the more severe the disease. Some patients may have either no symptoms or very mild symptoms. Others may worsen over time, developing blue coloring (cyanosis), heart failure, heart block, or dangerous heart rhythms.

Possible Complications
A severe leakage can lead to swelling of the heart and liver, and congestive heart failure. Other complications may include:

Abnormal heart rhythms (arrhythmias), including abormally fast rhythms (tachyarrhythmias) and abnormally slow rhythms (bradyarrhythmias and heart block) Blood clots from the heart to other parts of the body Brain abscess

When to Contact a Medical Professional

Call your health care provider if your child develops symptoms of this condition. Seek immediate medical attention if breathing problems occur.

Prevention
There is no known prevention, other than talking with your doctor before a pregnancy if you are taking medicines that are thought to be related to developing this disease. You may be able to prevent some of the complications of the disease. For example, taking antibiotics before dental surgery may help prevent endocarditis.

Alternative Names
Ebstein's malformation

References
Cyanotic Congenital Heart Defects. In: Park MK, Troxler RG, eds. Pediatric Cardiology for Practioners. 5th ed. St. Louis, Mo: Mosby, Inc; 2008: chap 14.

Atrial septal defect

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/000157.htm

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. Small atrial septal defects often cause very few problems and may be found much later in life. Many problems can occur if the shunt is large, however. In advanced and severe cases with large shunts the increased pressure on the right side of the heart would result in reversal of blood flow (now from right to left). This usually results in significant shortness of breath. 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:

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:

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:

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. Some patients with ASD may have other congenital heart conditions, such as a leaky valve.

Possible Complications

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.

Alternative Names
ASD

References
Webb GD, Smallhorn JF, Therrien J, et al. Congenital heart disease. Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. St. Louis, Mo: WB Saunders; 2007:chap 61.

Patent ductus arteriosus

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001560.htm

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:

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.

Alternative Names
PDA

References

Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 8th ed. St. Louis, Mo; WB Saunders; 2007.

Aortic stenosis
URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/000178.htm

The aorta is the main artery carrying blood out of the heart. When blood leaves the heart, it flows through the aortic valve, into the aorta. In aortic stenosis, the aortic valve does not open fully. This decreases blood flow from the heart.

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 or longer 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:

Breathlessness with activity Chest pain, angina-type o Crushing, squeezing, pressure, tightness o Pain increases with exercise, relieved with rest o 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:

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 significant 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. Antibiotics may be used for some people with aortic stenosis:

People who had rheumatic fever in the past may need long-term, daily treatment with penicillin. In the past, most patients with heart valve problems such as aortic stenosis were given antibiotics before dental work or an invasive procedure, such as colonoscopy. The antibiotics were given to prevent an infection of the damaged heart valve. However, antibiotics are now used much less often before dental work and other procedures.

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. A less invasive procedure called balloon valvuloplasty may be done in 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 blockage caused by the narrowed valve. Some children may require aortic valve repair or replacement. If possible, the pulmonary valve may be used to replace the aortic valve. Children with mild aortic stenosis may be able to participate in most activities and sports. See also:

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

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 has symptoms of aortic stenosis. For example, call if you or your child has a sensation of feeling the heart beat (palpitations) for more than a short period of time. Also contact your doctor immediately if you have been diagnosed with this condition and your symptoms get worse or new symptoms 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 prevented. 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 disease.

Alternative Names
Aortic valve stenosis; Left ventricular outflow tract obstruction; Rheumatic aortic stenosis; Calcium aortic stenosis

References
Otto CM, Bonow RO. Valvular heart disease. Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. St. Louis, Mo: WB Saunders; 2007:chap 62.

Fullerton DA, Harken AH. Acquired heart disease: valvular. In: Townsend CM Jr., Beauchamp RD, Evers BM, et al., eds. Sabiston Textbook of Surgery. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 62. Nishimura RA, Carabello BA, Faxon DP, et al. ACC/AHA 2008 guideline update on valvular heart disease: focused update on infective endocarditis: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol. 2008;52(8):676-685. Bonow RO, Carabello BA, Chatterjee K, de Leon AC Jr., Faxon DP, Freed MD, et al; 2006 Writing Committee Members; American College of Cardiology/American Heart Association Task Force. 2008 Focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the 1998 Guidelines for the Management of Patients with Valvular Heart Disease): endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. Circulation. 2008;118:e523-e661. Obstructive lesions. In: Park MK, ed. Pediatric Cardiology for Practitioners. 5th ed. St. Louis, Mo: Mosby Elsevier; 2008:chap 13.

Pulmonary valve stenosis

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/001096.htm

Pulmonary valve stenosis is a heart valve disorder that involves the pulmonary valve. This valve separates the right ventricle (one of the chambers in the heart) and the pulmonary artery. The pulmonary artery carries oxygen-poor blood to the lungs. Stenosis occurs when the valve cannot open wide enough. As a result, less blood flows to the lungs.

Causes
Narrowing in the pulmonary valve is usually present at birth (congenital). It is 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 valve itself is called pulmonary valve stenosis. There may also be narrowing just before or just after the valve. The defect may occur alone or with other congenital heart defects. The condition can be mild or severe. Pulmonary valve stenosis is a rare disorder.

Symptoms

Abdominal distention 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 when listening to your heart using a stethoscope. Murmurs are blowing, whooshing, or rasping sounds heard during a heartbeat. Tests used to diagnose pulmonary stenosis may include:

Cardiac catheterization Chest x-ray ECG Echocardiogram MRI of the heart

Treatment
Sometimes, treatment may not be needed if the disorder is mild. When there are also other heart defects, medications may be used to:

Help blood flow through the heart (prostaglandins)

Help the heart beat stronger Prevent clots (blood thinners) Remove excess fluid (water pills) Treat abnormal heartbeats and rhythms

Percutaneous balloon pulmonary dilation (valvuloplasty) may be used when no other heart defects are present. This surgery is done through an artery in the groin. The doctor sends a flexible tube (catheter) with a balloon attached to the end up to the heart. The balloon stretches the opening of the valve. Some patients may need heart surgery to repair or replace the pulmonary valve. The new valve can be made from different materials.

Outlook (Prognosis)
About one-third of patients with mild stenosis get better, one-third stay the same, and one-third get worse. The outcome is good with successful surgery or balloon dilation. Other congenital heart defects may be a factor in the outlook. Some valves can last for decades. Others wear out and will need to be replaced.

Possible Complications

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 You have been treated or have untreated pulmonary valve stenosis and have developed swelling (of the ankles, legs, or abdomen), difficulty breathing, or other new symptoms

Alternative Names
Valvular pulmonary stenosis; Heart valve pulmonary stenosis; Pulmonary stenosis; Stenosis - pulmonary valve; Balloon valvuloplasty - pulmonary

References
Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. St. Louis, Mo: WB Saunders; 2007.

Coarctation of the aorta

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/000191.htm

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:

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:

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.

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:

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 man-made 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:

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:

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:

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

References
Fraser CD Jr., Carberry KE. Congenital heart disease. In: Townsend CM, Beauchamp RD, Evers BM, Mattox KL, eds. Sabiston Textbook of Surgery. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 60. In: Anderson RH, Baker EJ, Macartney FJ, Rigby ML, eds. Paediatric Cardiology. 3rd. Philadelphia, Pa: Churchill Livingstone Elsevier;2009:chap 46. Webb GD, Smallhorn JF, Therrien J, et al. Congenital heart disease. Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 8th ed. St. Louis, Mo: WB Saunders; 2007: chap 61.

Endocardial cushion defect

URL of this page: http://www.nlm.nih.gov/medlineplus/ency/article/007324.htm

Endocardial cushion defect (ECD) is an abnormal heart condition in which the walls separating all four chambers of the heart are poorly formed or absent. 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 valves that separate the atria (top collecting chambers) from the ventricles (bottom pumping chambers). The lack of separation between the two sides of the heart causes several problems:

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. Cyanosis. As the blood pressure increases in the lungs, blood flow starts to move from the right side of the heart to the left. The oxygen-poor blood mixes with the oxygen-rich blood, and blood with less oxygen than usual is pumped out to the body. This causes cyanosis, or bluish coloring of the skin.

There are two types of ECD:

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:

Double outlet right ventricle

Single ventricle Transposition of the great vessels Tetralogy of Fallot

Symptoms
Symptoms of ECD may include:

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) 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:

An abnormal electrocardiogram (ECG) An enlarged heart Heart murmur

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:

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 to separate the common valve into distinct tricuspid and mitral valves. The timing of the surgery depends on the child's condition and the severity of the ECD. It can usually be done when the baby is 3 - 6 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:

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 Pediatric heart 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:

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. Children with congenital heart disease may need to take antibiotics before dental treatment. This helps prevent complications related to heart infections. Ask a cardiologist whether your child needs to take antibiotics.

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

References
Park MK. Pediatric Cardiology for Practitioners, 5th ed. Philadelphia, Pa: Mosby Elsevier; 2008:181-189:chap 12. Townsend Jr. CM, Beauchamp RD, Evers BM, et al. Sabiston Textbook of Surgery, 18th ed. Philadelphia, Pa: Saunders Elsevier; 2008:1760-1762.