Congenital heart defects are abnormalities in the heart's structure that are present at birth. Approximately 8 out of every 1,000 newborns have congenital heart defects, which can range from mild to severe.
Congenital heart defects happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy. Some are known to be associated with genetic disorders, such as Down syndrome, but the cause of most congenital heart defects is unknown. While they can't be prevented, there are many treatments for the defects and any related health problems.
To understand more about congenital heart defects, it's helpful to understand how a healthy heart works.
The heart, lungs, and blood vessels make up the circulatory system of the human body. The heart is the central pump of the circulatory system, and consists of four chambers — the left atrium and left ventricle and the right atrium and right ventricle.
The heart also has four valves that direct the flow of blood through the heart:
This is the normal pathway that blood travels through the heart and the body. However, abnormalities in the heart's structure — such as congenital heart defects — can affect its ability to function properly.
Common types of congenital heart defects, which can affect any part of the heart or its surrounding structures, include:
In aortic stenosis, the aortic valve is stiffened and has a narrowed opening (a condition called stenosis). It does not open properly, which increases strain on the heart because the left ventricle has to pump harder to send blood out to the body. Sometimes the aortic valve also does not close properly, causing it to leak, a condition called aortic regurgitation.
ASD is a hole in the wall (called the septum) that separates the left atrium and the right atrium. This wall is called the atrial septum. When this hole is present, it allows extra blood flow to travel from the left atrium into the right heart and out to the lungs.
This defect — also known as endocardial cushion defect or atrioventricular septal defect — is caused by a poorly formed central area of the heart. Typically, there is a large hole between the upper chambers of the heart (the atria) and, often, an additional hole between the lower chambers of the heart (the ventricles). Instead of two separate valves allowing flow into the heart (tricuspid on the right and mitral valve on the left), there is one large common valve, which may be quite malformed. Atrioventricular canal defect is commonly seen in children with Down syndrome.
Coarctation of the aorta is a narrowing of a portion of the aorta, and often seriously decreases the blood flow from the heart out to the lower portion of the body.
When the structures of the left side of the heart (the left ventricle, the mitral valve, and the aortic valve) are underdeveloped, they're unable to pump blood adequately to the entire body. This condition is usually diagnosed within the first few days of life, at which point the baby may be critically ill.
Fortunately, many of these infants are recognized to have serious heart disease even before birth on ultrasound tests. A fetal echocardiogram is a specialized ultrasound that allows doctors to see the baby's heart in great detail and plan the best care for the baby while still in utero.
The ductus arteriosus (DA) is a normal blood vessel in the developing fetus that diverts circulation away from the lungs and sends it directly to the body. (The lungs are not used while the unborn fetus is in amniotic fluid — the fetus gets oxygen directly from the mother's placenta.) The DA usually closes on its own shortly after birth; it is no longer needed once a newborn breathes independently. Patent ductus arteriosus (PDA) occurs when the DA doesn't close, which can result in too much blood flow to a newborn's lungs. PDA is common in premature babies.
The patent foramen ovale is a normal hole between the upper chambers of the heart. It is present in the unborn fetus and usually seals up in the first few months of life. In approximately 25% of people, this hole never fully closes. Usually, it does not cause problems and does not require treatment.
In this defect, the pulmonic valve does not open at all and may indeed be completely absent. The main blood vessel that runs between the right ventricle and the lungs also might be malformed and the right ventricle can be abnormally small. These babies usually appear blue (cyanotic) after birth and need immediate specialized care.
In pulmonary stenosis, the pulmonic valve is stiffened and has a narrowed opening (called stenosis). It does not open properly, which may increase strain on the right side of the heart because the right ventricle has to pump harder to send blood out to the lungs. If mild, pulmonary stenosis may never require any treatment.
Tetralogy of Fallot is actually a combination of four heart defects: pulmonary stenosis; a thickened right ventricle (ventricular hypertrophy); a hole between the lower chambers (ventricular septal defect); and an aorta that can receive blood from both the left and right ventricles, instead of draining just the left. Because deoxygenated (blue) blood can flow out to the body, children with this defect often appear bluish.
The pulmonary veins normally are the blood vessels that deliver oxygenated blood from the lungs to the left atrium. Sometimes these vessels don't join the left atrium during development. Instead they deliver blood to the heart by other pathways, which may be narrowed. Pressure builds up in this pathway and in the pulmonary veins, pushing fluid into the lungs, decreasing the amount of oxygenated blood that reaches the body. These infants often have difficulty breathing and appear bluish.
In this condition, the pulmonary artery and the aorta (the major blood vessels leaving the heart) are switched so that the aorta arises from the right side of the heart and receives blue blood, which is sent right back out to the body without becoming oxygen-rich. The pulmonary artery arises from the left side of the heart, receives red blood and sends it back to the lungs again. As a result, babies with this condition often appear very blue and have low oxygen levels in the bloodstream. They usually come to medical attention within the first days after birth.
Blood normally flows from the right atrium to the right ventricle through the tricuspid valve. In tricuspid atresia, the valve is replaced by a plate or membrane that does not open. The right ventricle therefore does not receive blood normally and is often small.
In an embryo, the aorta and the pulmonary artery are initially a single vessel. During normal development, that vessel splits to form the two major arteries, the aorta and the pulmonary artery. If that split does not occur, the child is born with a single common great blood vessel called the truncus arteriosus. There usually is a hole between the ventricles associated with this defect. The valve leading into the truncus arteriosus may be very abnormal.
One of the most common congenital heart defects, VSD is a hole in the wall (septum) between the heart's left and right ventricles. These can occur at different locations and vary in size from very small to very large. Some of the smaller defects may gradually close on their own.
Because congenital defects often compromise the heart's ability to pump blood and to deliver oxygen to the tissues of the body, they often produce telltale signs such as:
If you notice any of these signs in your baby or child, call your doctor right away. If your doctor notices these signs, you may be referred to a pediatric cardiologist.
If a congenital heart defect is suspected, your doctor will likely refer you to a pediatric cardiologist. Some congenital heart defects cause serious symptoms right at birth, requiring newborn intensive care in the hospital and immediate evaluation by a cardiologist. Other defects, like small atrial septal defects, may go undiagnosed until the teen — or even adult — years.
After a complete physical examination, including evaluation of the baby's heart rate and blood pressure, the cardiologist probably will order an electrocardiogram (EKG). EKGs are performed by placing small pads (called leads) on the child's chest, which are wired to a monitor that records and prints out the electrical signals of the heart.
The cardiologist will often order an echocardiogram, which provides detailed images of the heart by using ultrasound. Specialized ultrasound waves can demonstrate all of the heart chambers and valves, the great arteries arising from the heart, and the direction and speed of blood flow in various areas of the heart. Echocardiograms also can evaluate whether the heart is squeezing and relaxing normally. Echocardiograms are the primary tool for diagnosing congenital heart defects.
A fetal echocardiogram is a specialized type of ultrasound that allows diagnosis of heart problems in utero. This can be done as early as 16-18 weeks' gestation. These tests are usually ordered when an obstetrician suspects a heart abnormality on a level II ultrasound. They're also ordered if another close family member has a congenital heart defect or when the mother has a condition, such as diabetes, that might make a heart problem in the fetus more likely.
In some children, a chest X-ray is done to evaluate the size and shape of the heart. It can also help show the amount of blood the heart is pumping to the lungs.
Cardiac catheterization is sometimes performed as well. During this procedure, a long, thin tube called a catheter is threaded through blood vessels in the navel (in a newborn) or the groin and up into the heart. Once in place, the catheter can measure the oxygen levels and pressures within the heart's chambers. Dye may be injected through the catheter to better illustrate the heart's inner structures and determine the direction of blood flow through the heart.
Many congenital heart defects can be fixed in the cardiac catheterization laboratory. For instance, devices can close holes in the heart or open up tight valves or narrowed blood vessels.
A pediatric cardiologist is the doctor most qualified to diagnose a congenital heart defect and provide treatment. This is true even before a baby is born. If you are an expectant parent and your baby has been diagnosed with a congenital heart defect via a fetal ultrasound, your obstetrician probably will arrange a consultation with a pediatric cardiologist.
If you think your child may have a congenital heart defect or you notice any signs (such as difficulty breathing or feeding, or bluish skin) that concern you, call your doctor. In more urgent cases, such as if your baby suddenly turns blue or loses consciousness, call 911.
More treatment options than ever are available for congenital heart defects, and most defects are treated successfully. Children with heart disease are best cared for by a team of specialists, which will usually include pediatric cardiologists, pediatric heart surgeons, pediatric cardiac anesthesiologists, doctors specialized in the intensive care of children with heart disease, specialized nurses, nurse practitioners, physician assistants, and many others. Many children will benefit from having their hearts fixed surgically or through a procedure in the cardiac catheterization laboratory.
If you suspect that your child has a heart defect, the sooner you get medical attention, the better chance your child will have of making the fullest recovery possible.
With all the medical resources available, a congenital heart defect won't necessarily prevent a child from leading a normal life. By working with the health care team, you'll get the best care possible for your child.
Reviewed by: Gina Baffa, MD
Date reviewed: January 2012
|National Heart, Lung, and Blood Institute (NHLBI) The NHLBI provides the public with educational resources relating to the treatment of heart, blood vessel, lung, and blood diseases as well as sleep disorders.|
|Congenital Heart Information Network The Congenital Heart Information Network's goal is to provide information and resources to families of children with congenital and acquired heart disease, adults with congenital heart defects, and the professionals who work with them.|
|American Heart Association This group is dedicated to providing education and information on fighting heart disease and stroke. Contact the American Heart Association at: American Heart Association|
7272 Greenville Ave.
Dallas, TX 75231
|American Academy of Pediatrics (AAP) The AAP is committed to the health and well-being of infants, adolescents, and young adults. The website offers news articles and tips on health for families.|
|Ventricular Septal Defect Ventricular septal defect (VSD) - also known as a "hole in the heart" - is a congenital heart defect. Fortunately, most VSDs are diagnosed and treated successfully.|
|Heart Murmurs and Your Child A heart murmur diagnosis is extremely common. Most murmurs are not a cause for concern and do not affect a child's health.|
|If Your Child Has a Heart Defect Congenital heart defects are relatively common, affecting almost 1 in every 100 newborns in the United States.|
|Coarctation of the Aorta Coarctation of the aorta is a treatable congenital defect in which a child's aorta is narrowed at some point.|
|Heart Murmurs Everyone's heart makes sounds, but some people have hearts that make more noise than others. Usually, however, these heart murmurs don't mean anything is wrong. Find out more about these mysterious murmurs.|
|Mitral Valve Prolapse Mitral valve prolapse (MVP) is a very common heart condition, but it isn't a critical heart problem or a sign of other serious medical conditions.|
|EKG (Video) This video shows what it's like to have an electrocardiogram (EKG for short).|
|Arrhythmias Arrhythmias are abnormal heartbeats usually caused by an electrical "short circuit" in the heart. Many are minor and not a significant health threat, but others can indicate a more serious problem.|
|Atrial Septal Defect Atrial septal defect, or ASD, is a heart condition that teens can have. In most cases, ASDs are diagnosed and treated successfully with few or no complications.|
|Atrial Septal Defect An atrial septal defect is an opening in the wall between two parts of the heart that lets oxygen-rich blood from one side mix with oxygen-poor blood on the other side. Read more about ASDs in this article for kids.|
|Heart and Circulatory System The heart and circulatory system (also called the cardiovascular system) make up the network that delivers blood to the body's tissues.|
|Getting an EKG (Video) Getting an EKG doesn't hurt and it gives doctors important info about how your heart is beating. Watch what happens in this video for kids.|
|Your Heart & Circulatory System Your heart is a hard-working muscle. Find out more in this article for kids.|
|Movie: Heart & Circulatory System Watch this movie about circulation - the system that sends blood throughout your body.|
|Congenital Heart Defects Congenital heart defects involve abnormal or incomplete development of the heart. Learn about the different types of congenital heart defects.|
|Mitral Valve Prolapse Mitral valve prolapse is a heart problem that usually isn't much to worry about. Learn more about it here.|
|Arrhythmias Arrhythmias are abnormal heart rhythms usually caused by an electrical "short circuit" in the heart. Many don't require treatment; however, some need to be evaluated and treated by a doctor.|
|Atrial Septal Defect Atrial septal defect (ASD) - also known as a "hole in the heart" - is a type of congenital heart disease. Fortunately, most ASDs are diagnosed and treated successfully.|
|Ventricular Septal Defect Ventricular septal defect, or VSD, is a heart condition that a few teens can have. Find out what it is, how it happens, and what doctors do to correct it.|
|Magnetic Resonance Imaging (MRI) An MRI is a painless test that produces detailed pictures of the body's organs and structures. This article for teens explains how it works and why you might need one.|
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