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A congenital heart disorder involves defects in the heart that are formed in the first few weeks of pregnancy as the baby's heart is developing. These disorders can often be detected before the baby is born through a fetal echocardiogram.
Cook Children's pediatric heart specialists are experts at diagnosing and treating congenital heart defects using today's most advanced technologies and treatments.
Every year, approximately eight out of every 1,000 babies are born with a congenital heart defect. A congenital heart defect is formed long before a baby is born, developing in the very early weeks of pregnancy. Many people will never even be aware that they have a congenital defect because a large number of them have no symptoms and pose no risk. Others may experience mild symptoms throughout life, but require minimal treatment. Still others are more complex and may need some form of intervention to repair and perhaps ongoing medication. A small percentage will require multiple interventions. Of these, some will be performed within minutes of the baby's birth. Babies born with congenital heart conditions may require multiple complex interventions, sometimes continuing into early adulthood because, like the child, the heart starts out small and grows larger as the child grows up. For that reason, Cook Children's provides care to teens and young adults through our Adult Congenital Heart Program.
Congenital heart defects are caused when certain parts of the heart don't form completely or correctly in the early weeks of pregnancy. This can happen for a number of reasons some of which are known and some not. Many times defects are due to genetic disorders such as Down syndrome. While all the causes are not known, there is much we do know, thanks to advanced testing, diagnosis and treatment technologies and medicines.
Congenital heart defects can also be the result of other birth defects that occur during the baby's formation as well. According to current statistics, at least 30 percent of children with chromosomal abnormalities have heart defects. Some of those conditions include:
Certain congenital heart abnormalities may also be related to exposure to conditions experienced in the early weeks of pregnancy:
Children with chromosomal abnormalities should be routinely evaluated for heart defects. A fetal echocardiograph may also be recommended if there is a strong family history of certain genetic or chromosomal allergies or if the fetus has been exposed to certain conditions in the early weeks of pregnancy. This can help the heart team determine the severity of the disorder and, if necessary, prepare a plan for medical treatment at birth to give your baby the best possible outcome opportunity.
What types of symptoms your child has will depend on age, which can be pre-birth, infancy or all the way into adulthood.
Some symptoms may be detected during pregnancy. This typically happens if the mother is having a problem with her pregnancy, history or family history of heart disease or if something shows up on an ultrasound.
In infants and babies the symptoms can be more visible, and can sometimes mimic other illnesses such as colic. In your infant you may notice:
In babies with certain heart disorders these symptoms may be the result of the heart needing to work harder, causing the baby to breathe faster. This in turn disrupts feeding since it is difficult for the baby to eat when breathing is a challenge.
These symptoms aren't usually related to heart conditions. Your child may naturally sweat more than other children. A change in heart rate could be related to caffeinated drinks. And fainting or dizziness are often symptoms of dehydration–especially in Texas summers where heat and humidity can rapidly deplete the body's hydration levels during times of activity.
But if these symptoms seem out of the ordinary for your child, or you are at all concerned or bothered by them, it is a good idea to talk with your pediatrician. It is always better to be safe and, even if it's not a heart issue, it may be something that requires treating. And, if your pediatrician does suspect a heart problem, he or she can refer your child to a pediatric cardiologist right away for testing and diagnosis.
There are many ways that congenital defects are discovered. Your child's pediatrician may hear a murmur through the stethoscope during a routine wellness checkup. Your doctor may perform an EKG in the office, or he or she may refer your child to a pediatric cardiologist for further evaluation. Thanks to amazing breakthroughs in prenatal care over the last few years, many congenital heart defects are now discovered long before your baby is even born. This means that in many cases you, your pediatrician, your pediatric cardiologist and your obstetrician have the knowledge needed to create a care plan for your baby from the moment he or she is born. This means giving your child a better opportunity at a positive outcome right from the start.
Thanks to advances in prenatal care, many congenital heart defects are discovered early through fetal ultrasounds, the first test your baby will likely take. If the sonographer has any concerns during the sonogram, your doctor will be notified and you may be referred to a pediatric cardiologist and a fetal echocardiograph may be done. This test allows the medical team to see in great detail the formation of the baby's cardiovascular system and development during pregnancy. Being able to identify a condition this early allows them to determine what, if any, treatment is necessary at birth. And, in critical conditions, perform life-saving procedures.
Your ob/gyn may also refer you for a fetal echocardiograph if you have history of any of the following:
Many congenital heart conditions appear before or immediately following your baby's birth. Other congenital conditions may appear anytime throughout childhood and on into young adulthood. If symptoms occur, your pediatric cardiologist may arrange testing, which might include:
Being told that your child may need to be tested for a congenital heart condition can leave you feeling nervous. You and your child are in good hands with the specialists here at Cook Children's. Our team is specially trained in the testing and diagnosis of babies, kids, teens and young adults. And chances are, even if your child has a heart defect, he or she may require only minimal treatment. Should the need for treatment be more critical, earlier treatment can help to provide a healthier outcome–and that should help to lighten your heart. To learn more about the advanced testing and diagnoses available at Cook Children's, click here.
In aortic stenosis (AS), 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. Click here for more detailed information on aortic stenosis.
Congenital heart defects don’t always present a clear cut method of treatment. Often, there are multiple ways of approaching the diagnosis. Our physicians are also available to provide second opinions for families seeking alternative treatment options.
If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2140.
Atrial septal defect (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. ASD can also cause partial anomalous pulmonary venous return.
An atrioventricular septal defect (AVSD), or AV canal, is a heart defect that involves the valves between the heart's upper and lower chambers and the walls between the chambers. Other terms used to describe this problem include endocardial cushion defect and AV canal defect. A similar but less serious form of atrioventricular septal defect is called primum atrial septal defect or incomplete or partial atrioventricular septal defect.
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. Learn more about atrioventricular canal defect here.
Learn more about the surgery used to repair this defect.
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. Learn more about coarctation of the aorta.
Double outlet right ventricle (DORV) is seen in many types of heart defects where both the aorta and the pulmonary artery arise from the right ventricle. Children diagnosed with DORV may also be diagnosed with one or more additional disorders, which may include:
Find more information in our online health dictionary.
In Ebstein's anomaly, the tricuspid valve sits lower than normal in the right ventricle. This makes it so that a portion of the right ventricle becomes part of the right atrium (becomes atrialized), causing the right atrium to be larger than usual. Because of this, the right ventricle can't work properly
Also, the tricuspid valve's leaflets are abnormally formed. This can lead to blood leaking backward into the right atrium (tricuspid valve regurgitation).
The placement of the valve and how poorly it's formed may vary among people. Some people may have a mildly abnormal valve. Others may have a valve that is extremely displaced, and it may leak severely.
The more the tricuspid valve leaks, the more the right atrium enlarges as it receives more blood. At the same time, the right ventricle enlarges (dilates) as it tries to cope with the leaky valve and still deliver blood to the lungs. Thus, the right-sided chambers of the heart enlarge, and as they do, they weaken, which may lead to heart failure.
Learn more about treatment options for Epstein’s anomaly
When the structures of the left side of the heart and aorta (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 after birth, at which point the baby may be critically ill. It can usually be detected via fetal echo and can be diagnosed as early as 15 or 16 weeks gestation. It is preferable to identify the condition in utero (before birth) so a plan can be developed early on.
Explore more information about the causes, risks, treatments and long-term outlook for hypoplastic left heart syndrome.
The mitral valve is between the heart's left atrium and left ventricle. It has two flaps that open and close together like a pair of swinging doors. When the heart beats, the left ventricle pumps blood out to the body and the flaps swing shut. This keeps the blood in the ventricle from going back into the left atrium. In some kids, they may not shut properly. When the flaps don't close correctly, blood can leak back into the left atrium.
Most kids with MVP have no complaints and no symptoms. In some kids, the flaps of the mitral valve make a clicking sound when they close. A doctor may hear this when listening to the heart with a stethoscope. Someone who has MVP and a little blood leaking back through the valve also may have a heart murmur. A heart murmur is the sound caused by the leaking blood. Other symptoms may include:
Most kids who are diagnosed with MVP don't require any treatment. In a few cases your child may need to take a medicine to help the heart pump blood out to the body and sometimes to give the heart a more regular heartbeat. In very rare instances surgery might be required to fix a leaky mitral valve. You'll find more information here and in our health dictionary.
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 since it is not needed once a newborn begins to breathe on his or her own. 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. For more information, click here.
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. Get more information from our online health dictionary.
Pulmonary Atresia with VSD (ventricular septal defect) and MAPCAs (major aorto-pulmonary collateral arteries) is a form of Tetralogy of Fallot in which there is complete obstruction of the Pulmonary artery resulting in total diversion of blood from the right ventricle into the aorta.
The severity of the condition depends on the presence of a number of naturally occurring connecting blood vessels between the aorta and the pulmonary arteries in the lungs, which are called collaterals – or sometimes MAPCAs.
The collaterals are usually several in number and carry blood to different parts of the lung circulation. Surgery is often a matter of connecting up the multiple collaterals at different operations before performing a Complete Repair in suitable cases. The final repair usually involves insertion of a graft valve (conduit) to replace the absent Pulmonary Valve.
Learn more about the procedure performed to repair this complex condition.
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.
Many forms of congenital heart disease present with only one functional pumping chamber (ventricle). These forms of congenital heart disease comprise the most serious, complex types. Examples include tricuspid atresia, hypoplastic left heart syndrome (HLHS), pulmonary atresia with intact ventricular septum, mitral atresia (often associated with HLHS), unbalanced atrioventricular canal defects and double-outlet right ventricle.
In most cases, a staged surgical palliation (Fontan pathway) is used to separate the blue blood returning from the body from the heart and allowing it to flow directly to the lungs. Often, two operations are required to accomplish this task.
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. You can learn more about Tetralogy of Fallot here.
Check out this story in Cook Children's Checkup Newsroom to learn about one patient's journey with this diagnosis at Cook Children's.
Normally, the pulmonary veins are the blood vessels that deliver oxygenated blood from the lungs to the left atrium. Sometimes, during the development of baby in the womb, these vessels don't join the left atrium. When this happens, these veins 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. Get more information from our online health dictionary.
Transposition of the great arteries is the reversal of the connections of the aorta and the pulmonary artery within the heart. 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. Symptoms can appear hours to days after the baby is born, because symptoms depend on the patent ductus arteriosus (PDA) and whether or not the atrial septal defect (ASD) is restrictive, and some babies progress to a more critical state more quickly than others given these factors.
Get more more information about the recommended surgery to correct this condition.
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. Get more information from our online health dictionary.
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. Get more information from our online health dictionary.
Vascular ring is rare. It accounts for less than 1% of all congenital heart problems and is seen equally in both boys and girls. Some infants with vascular ring also have another congenital heart problem.
Vascular ring occurs very early in the baby's development in the womb and is an abnormal formation of the aorta, the large artery that carries blood from the heart to the rest of the body. Normally, the aorta develops from one of several curved pieces of tissue (arches). The body breaks down some of the remaining arches, while others form into arteries. Some arteries that should break down do not; this forms vascular rings.
During the baby's development, the aorta or one of its arteries creates a full ring or a partial ring–a sling–around the trachea and/or the esophagus. In some children this can place pressure on the trachea, or breathing tube, and the esophagus causing difficulty with breathing or eating. Other children may go their entire lives without any effects at all, depending on the extent of the defect.
To understand vascular rings and slings it is important to understand how the aorta is formed and the basics of what it does. The aorta is the largest artery in the body. It begins at the top of the left ventricle, the heart's muscular pumping chamber. The aorta is approximately one inch in diameter and one foot in length; it is divided into four sections:
Vascular rings affect only the aortic arch and the ascending and descending aorta.
The trachea is like a tube that allows air to travel to the lungs. The esophagus is the passageway that allows food to travel to the stomach. When this happens, air may not flow so easily to the lungs and food may not be able to reach the stomach.
Normally, the aorta develops from one of a series of symmetrical arches. By the end of the second month of fetal development, the other arches are naturally broken down or formed into arteries. When a vascular ring occurs, certain arches that should have disappeared still remain and form a ring structure.
While there are many types of vascular rings, the two most common are double aortic arch and right aortic arch:
Currently, there is no known cause for this very unusual congenital defect. It is sometimes seen with other congenital defects, but this is not always the case. It is very possible that there is a genetic interruption in one of the chromosomes. There does not appear to be any pattern of inherited genetics.
Vascular ring is rare. It accounts for less than 1 percent of all congenital heart problems. The condition occurs as often in males as females. Some infants with vascular ring also have another congenital heart problem. It is found equally in children of all racial, ethnic and socio-economic backgrounds.
Some children with a vascular ring never develop symptoms. However, in most cases, symptoms are seen during infancy. Pressure on the windpipe (trachea) and esophagus can lead to breathing and digestive problems. The more the ring presses down, the more severe the symptoms will be. Breathing problems may include:
Solid food may not easily be swallowed because the vascular ring around the esophagus narrows the passageway. Your child may also have excessive vomiting and choking when trying to eat.
Call your health care provider if your baby has symptoms of vascular ring. Getting diagnosed and treated quickly can prevent serious complications.
The doctor will listen to the baby's breathing to rule out other breathing disorders such as asthma. Listening to the child's heart through a stethoscope can help identify murmurs and other heart problems. The following tests can help diagnose vascular ring:
Surgery is the only method of treatment for this condition and is usually performed as soon as possible on children with symptoms. In most cases, vascular ring surgery is minimally invasive. The procedure usually requires only a small surgical cut in the left side of the chest between the ribs. The surgeon will split the vascular ring or repair the slings, relieving pressure on the surrounding structures.
Surgery works well in most cases and often relieves symptoms right away. For children who have had vascular rings or slings around the trachea, severe breathing problems may take months to go away. Some children may continue to have loud breathing, especially when they are very active or have respiratory infections. Your pediatric specialist will prescribe medications (such as antibiotics) to treat any respiratory tract infections, if they occur.
If your child's esophagus was affected, then certain symptoms may take time to go away after surgery. Your doctor may recommend working with one of our pediatric dietitians to change the child's diet, which may help relieve the digestive symptoms of vascular ring.
If your child has been diagnosed with vascular rings but doesn't have any symptoms, surgery may not be needed. However, your pediatric heart specialist will check your child on a regular basis to make sure the condition doesn't get worse.
Delaying surgery can lead to serious complications such as damage to the trachea and even death, so it is very critical to report any symptoms to the team here at the Cook Children's Heart Center. Our cardiovascular surgeons and support team have a great deal of experience in this surgery and the care of vascular rings and slings. When it comes to your child, we want to get them treated and back to as normal a childhood as possible, as quickly as possible.
One of the most common congenital heart defects, VSD is one or multiple holes 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. For more detailed information on VSD, click here.
Rare and complex congenital heart defects don’t always present a clear cut method of treatment. Often, there are multiple ways of approaching the diagnosis. Our physicians also are available to provide second opinions for families seeking alternative treatment options. If you would like to schedule an appointment, refer a patient or speak to our staff, please call our offices at 682-885-2140.