- About CHD
- What is CHD?
- When to see a doctor?
- How heart defects develop?
- Types of heart defects
- Preparing for your appointment
- Tests and diagnosis
- Treatments and drugs
- Long-term treatment
- Coping and support
The news of Congenital Heart Defect (CHD) in your child will naturally leave you worried about his or her health. But, garnering knowledge about this condition can help you better understand your child’s health, related treatment, its prognosis, and after-care.
What is CHD?
Congenital Heart Defect is a neonatal birth defect due to abnormal development of the heart that could involve the interior walls of the heart, the valves inside the heart, or the arteries and veins that carry blood to the heart or the body. Blue baby is another term used for CHD. A baby with a blue complexion from lack of oxygen in the blood due to a congenital defect of the heart or major blood vessels. This is also called blue baby syndrome. The severity of CHD ranges from simple to complex. Simple CHDs such as a small hole between heart chambers do not require any treatment because it gets corrected on its own. But, complex CHDs require special medical care and multiple surgeries over a span of several years.
CHD affects approximately nine out of 1,000 newborns and is one of the leading causes of infant mortality. However, early detection and right treatment increases the chance of survival and has good long-term prognosis among newborns. Around 90% of CHD-affected children can be treated if diagnosed early, even better if it gets detected before birth.
Congenital heart defects that are less serious in nature may not show any signs or symptoms until later stages of childhood and may not even get detected by a doctor during a physical exam. The signs and symptoms evident in older children are:
– Shortness of breath during exercise or activity
– Gets easily tiring during exercise or activity
– Swelling in the hands, ankles or feet
But, severe congenital heart defects become evident soon after birth or during the first few months of life. The signs and symptoms include:
– Cyanosis – a bluish tint to the skin, fingernails, and lips
– Rapid breathing
– Poor feeding leading to poor weight gain
– Poor blood circulation
– Flared nostrils and grunting when breathing
– Swelling in the legs, abdomen or areas around the eyes
When to see a doctor?
A serious congenital heart defect is often diagnosed before or soon after the child is born and thus receives immediate medical attention. But, in the case of children whose heart defect goes undetected at birth, you must see a doctor at the first occurrence of any of the listed symptoms.
Most congenital heart defects result from problems in the child’s early heart development, but doctors don’t always know why congenital heart defects occur in a baby. However, certain genetic and environmental factors are linked to the cause of CHD. They include:
– Heredity – Congenital heart defects appear to run in families. For example, a parent who has a congenital heart defect is more likely to have a child with CHD compared to parents who do not have any defect.
– Genetic – CHDs are associated with many genetic disorders such as Down syndrome. It has been observed that half of all newborns who have Down syndrome suffer from CHD. Genetic testing can detect such disorders during fetal development. And, if you already have a child with CHD, a genetic counselor can estimate the odds that your next child will have one.
– Rubella (German measles) – Having rubella during pregnancy especially during the first trimester can cause problems in your baby’s heart development. This can be prevented by taking an immunity test to this viral disease before pregnancy and getting vaccinated if required.
– Alcohol, smoking, or medications – Alcohol consumption during pregnancy has been linked to increased risk of congenital heart defects. Smoking during pregnancy increases the likelihood of several types of CHDs, including septal defects. Certain medications taken during pregnancy may cause birth defects, including CHD, thus making it mandatory to consult your doctor before taking any medication during pregnancy and also provide a complete list of medications you take before attempting to conceive.
– Diabetes – Having this chronic condition may interfere with the normal development of the fetus’ heart. In order to reduce the risk, it is critical to control your diabetes before attempting to conceive and during pregnancy.
How heart defects develop?
The heart of the fetus begins taking shape and starts beating during the first six weeks of pregnancy. The major blood vessels that run to and from the heart also begin to form during this stage. Though researchers aren’t sure of the exact cause of heart effects but it is during this stage of fetal development that defects may begin to develop too. In the case of congenital heart defects, some part of the heart doesn’t form properly before birth. This changes the normal flow of blood through the heart. The heart defects are thought to be caused due to genetic, certain medical condition, medication, or environmental factors such as smoking, and drinking.
Types of heart defects
There are many types of congenital heart defects. Some are simple, such as a hole in the septum or a narrowed valve. Other heart defects are more complex that include combinations of simple defects, problems with the location of blood vessels, and more serious problems with how the heart develops.
– Holes in the heart (septal defects) – Septum is the wall separating the chambers on left and right sides of the heart. This wall prevents blood from mixing between the two sides of the heart. Some babies are born with holes in the septum. These holes allow blood to mix between the two sides of the heart. The two types of septal defect are atrial septal defect and ventricular septal defect.
Atrial septal defect or ASD occurs when there is a hole between the upper chambers of the heart (atria). The hole allows oxygen-rich blood from the left atrium to flow into the right atrium, instead of flowing into the left ventricle as it should in a normal condition. ASDs can be small, medium, or large. Many small ASDs do not require any special treatment and close on their own as the heart grows during childhood. But, leakage of blood from one atrium to the other is more in medium and large ASDs and it requires treatment because they are less likely to close on their own. This can be treated by using a catheter procedure or open-heart surgery.
Ventricular septal defect or VSD occurs when there is a hole between the lower chambers of the heart (ventricles). The hole allows oxygen-rich blood to flow from the left ventricle into the right ventricle, instead of flowing into the aorta and out to the body as it should in a normal condition. Similar to ASD, VSDs can be small, medium, or large. Small VSDs don’t cause problems and may close on their own. But, medium and large VSDs require treatment as they are less likely to close on their own. Mostly, open heart surgery is used to treat VSDs.
– Patent ductus arteriosus (PDA) occurs soon after birth. It causes abnormal blood flow between the pulmonary artery (containing deoxygenated blood) and the aorta (containing oxygenated blood). Before birth, these arteries are connected by a blood vessel called the ductus arteriosus and this blood vessel is an essential part of fetal blood circulation. In normal condition, the ductus arteriosus closes within minutes or up to a few days after birth. But in some babies, the ductus arteriosus remains open (patent) allowing oxygen-rich blood from the aorta to mix with oxygen-poor blood from the pulmonary artery. This strains the heart and increases blood pressure in the lung arteries. A heart murmur is a significant sign of PDA. Other signs and symptoms can include shortness of breath, poor feeding, and growth, tiring easily and sweating with exertion. Small PDAs may often close without treatment but serious ones can be treated with medicines, catheter-based procedures, and surgery.
– Heart valve abnormalities – Smooth flow of blood gets obstructed if the heart valves can’t open and close correctly. Ebstein’s anomaly and pulmonary atresia are two such heart valve abnormalities. In Ebstein’s anomaly, the tricuspid valve — which is located between the right atrium and the right ventricle — is malformed and often leaks, whereas, in pulmonary atresia, the pulmonary valve is missing, causing abnormal blood flow to the lungs.
– Narrowed valves – When blood vessels or heart valves are narrow because of a heart defect, the heart must work harder to pump blood through them. Valves can have the following types of defects:
• Stenosis – This defect occurs when the valve cannot open fully as a result of thickening, stiffening, or fusing together of valve thereby making the heart to work harder to pump blood through the valve.
• Atresia – This defect occurs if a valve doesn’t form correctly and lacks a hole for blood to pass through. This defect can result in more complex congenital heart disease.
• Regurgitation – This defect occurs if a valve doesn’t close tightly resulting in blood leaking back through the valve.
The most common type of valve defect is pulmonary stenosis. This condition occurs when the valve that allows blood to pass from the right ventricle to the lungs via the pulmonary artery is too narrow to function properly. This defect can range from mild to severe. Treatment isn’t required for the mild condition of this defect, however, catheter procedure is used to treat severe cases of pulmonary valve stenosis.
Another type of obstructive defect is aortic stenosis. In this condition, the aortic valve, which allows blood to pass from the left ventricle out to the body via the aorta, is too narrow. Narrowed valves force the heart muscle to work harder, eventually leading to thickening and enlarging of the heart.
– Blood vessel abnormalities – Deformed or wrongly positioned blood vessels cause several congenital heart defects. Transposition, coarctation, and total anomalous pulmonary venous connection are three types of such defect. Transposition occurs when the pulmonary artery and the aorta are on the wrong sides of the heart. Coarctation of the aorta happens when the main blood vessel supplying blood to the body is too narrow. This causes high blood pressure. The total anomalous pulmonary venous connection is a defect that occurs when blood vessels from the lungs attach to the wrong area of the heart.
– An underdeveloped heart – Sometimes, a major portion of the heart fails to develop during gestation. For example, in hypoplastic left heart syndrome, the left side of the heart doesn’t develop completely to effectively pump enough blood to the body.
– Tetralogy of Fallot – This is one of the most common complex heart defects. It is a combination of four defects: pulmonary valve stenosis, a large VSD, an overriding aorta, and right ventricular hypertrophy. In tetralogy of Fallot, not enough blood is able to reach the lungs to get oxygen, and oxygen-poor blood flows to the body. Babies and children with this defect have episodes of cyanosis, which can be severe. Tetralogy of Fallot must be treated with open-heart surgery, either soon after birth or later in infancy. Such children require lifelong medical care from a specialist to ensure a healthy life.
Some potential complications that can occur with a congenital heart defect include:
– Congestive heart failure – Babies with severe heart defect may develop congestive heart failure making it difficult for the heart to pump blood to the body. Rapid breathing (often with gasping breaths), and poor weight gain are the signs of congestive heart failure.
– Slower growth and development. Serious congenital heart defect affects normal growth and development in children. Affected children may appear smaller than other children of the same age and, if the nervous system has been affected, then their developmental milestones like walking and talking gets delayed compared to unaffected children.
– Heart rhythm problems (arrhythmias) – This can be caused by a congenital heart defect or from scarring that forms after surgery to correct a congenital heart defect.
– Cyanosis – Cyanosis – a grayish-blue skin color may develop if the child’s heart defect causes oxygen-rich and oxygen-poor blood to mix in his or her heart.
– Stroke – Although uncommon, some children with congenital heart defects are at increased risk of stroke due to blood clots traveling through a hole in the heart and on to the brain. Stroke is also a potential complication of some corrective surgeries for congenital heart defects.
– Emotional issues – Some children with congenital heart defects may feel insecure or develop emotional problems because of their size, activity restrictions or learning difficulties.
– Lifelong follow-up – Some CHD requires lifelong treatment and follow-up to ensure proper functioning of the heart and thus may not end with surgeries or medication while children are young. Children with heart defects should be mindful of their heart problems their entire lives, as their defect could lead to an increased risk of heart tissue infection (endocarditis), heart failure or heart valve problems. Most children with CHD will need to be seen regularly by a cardiologist throughout their life.
Preparing for your appointment
If your child has a life-threatening heart defect, it will likely be detected soon after birth, or possibly before birth as a part of routine exams during pregnancy. But, there could be instances where a child may show symptoms of heart defect later in infancy or childhood. In such a situation you must be prepared to describe your child’s symptoms to the doctor and provide a family medical history, pregnancy reports and medication details, details of child’s developmental milestones, the occurrence of symptoms for the first time, and frequency of occurrence of symptoms. Based on the information provided by you, the doctor will suggest specific medical tests for confirming whether or not the child is affected with CHD.
Tests and diagnosis
Severe congenital heart defects generally are diagnosed during pregnancy or soon after birth. Less severe defects go undiagnosed until children are older. Minor defects often have no signs or symptoms and may get diagnosed as a result of a physical exam and tests done for another reason or based on reported signs and symptoms. Pediatric cardiologists and cardiac surgeons are specialists are involved in the treatment of heart defects in children. During a physical exam, the doctor will examine a child’s heart and lungs and look for signs of a heart defect, such as cyanosis, shortness of breath, rapid breathing, delayed growth, or signs of heart failure.
– Fetal echocardiogram
This test is done during pregnancy if your doctor suspects the presence of CHD in your baby. This test uses sound waves to create a picture of the baby’s heart while the baby is still in the womb. A fetal echocardiogram is usually done at about 18 to 22 weeks of pregnancy. As this test allows your doctor to detect a heart defect at a pre-born stage, it allows your doctor to plan treatment before the baby is born.
An echocardiogram is used to diagnose a congenital heart defect after the child is born. This is a non-invasive test where the doctor performs an ultrasound to produce images of the heart. An echocardiogram allows the doctor to see your child’s heart in motion and to identify abnormalities in the heart muscle and valves. It is an important test for both diagnosing a heart problem and following the problem in future. An echocardiogram will help your child’s cardiologist decide if and when treatment is needed.
This is a non-invasive and painless test that records the electrical activity of the child’s heart. The test shows how fast the heart is beating and whether its rhythm is steady or irregular. It can help diagnose heart defects or rhythm problems.
– Chest X-ray
Chest X-ray can show whether the heart is enlarged, or if the lungs have extra blood flow or other fluid in them. The presence of any of the above could be signs of heart failure.
– Pulse oximetry
This test measures the level of oxygen in your child’s blood by placing a sensor on the end of your child’s finger or toe. Too little oxygen could suggest the presence of a heart problem in your child.
– Cardiac catheterization
In this test, a thin, flexible tube (catheter) is inserted into a vein in your baby’s arm, groin, or neck and guided through it into the heart. The special dye injected through the catheter allows the doctor to see blood flowing through the heart and blood vessels on an x-ray image thereby providing a much more detailed view of your child’s heart defect than an echocardiogram. In addition, cardiac catheterization is also used as treatment procedures for some types of heart defects.
Treatments and drugs
Simple or mild congenital heart defects may not need treatment, but complex ones require treatment. Generally, CHDs are treated either with catheter procedures or surgery or sometimes a combination of both. The treatment your child receives depends on the type and severity of his or her heart defect including your child’s age, size, and general health. Children with complex congenital heart defects may need several catheter or surgical procedures over a period of years, or they may be administered medicines for years.
– Catheter Procedures
Some congenital heart defects are treated using catheterization techniques, which allow the repair to be done without surgically opening the chest and heart. Catheter procedures are much easier on patients than surgery. They involve only a needle puncture in the skin where the catheter – a thin, flexible tube, is inserted into a vein or an artery.
Once the catheter is positioned at the site of the defect, tiny tools are threaded through the catheter to the heart to repair the defect. Catheter procedures can often be used to fix holes or areas of narrowing. They have become the preferred way to repair many simple heart defects, such as atrial septal defect (ASD) and pulmonary valve stenosis.
To correct an atrial septal defect, a catheter is threaded through a blood vessel to the hole. The catheter is equipped with an umbrella-like device that is pushed out of the catheter once the catheter reaches the septum. The device is securely placed so that it plugs the hole between the atria. Over time, normal tissue grows over the device and the device does not require to be changed when the child grows.
To repair areas of narrowing, such as pulmonary valve stenosis, a catheter is equipped with a small balloon that’s inflated in the area that’s narrowed. This creates
For pulmonary valve stenosis, a catheter equipped with a small balloon is inserted into a vein that is threaded to the heart’s pulmonary valve. The balloon is quickly inflated in the area that is narrowed to a wider area for blood to flow through. Then, the balloon is deflated and withdrawn along with the catheter. This procedure can be used to repair any narrowed valve in the heart.
A child may need to undergo surgery if his or her heart defect can’t be fixed using a catheter procedure. Sometimes a single surgery can repair the defect completely but for more complex defects it may need more than one surgery over months or years to completely treat the problem. Open-heart surgery is used to close holes in the heart with stitches or a patches, repair or replace heart valves, widen arteries or openings to heart valves, and repair complex defects, such as problems with the location of blood vessels near the heart or how they are formed.
The type of surgery your child needs depends on the extent of the defect. For some CHDs, such as holes in the heart, minimally invasive heart surgery may be an option. However, open-heart surgery is usually used to correct CHDs. Either type of surgery requires stopping the heart temporarily and using a heart-lung machine to circulate the blood throughout the body during surgery. The main difference between the two surgeries is that in a minimally invasive procedure, surgeons can operate through the ribs using only small holes, whereas, in open-heart surgery, the chest must be opened. These surgeries are major medical procedures and may require a significant recovery time for your child.
In rare instances when a baby is born with multiple defects that are too complex to repair, a heart transplant may be an option.
– Medications – Some mild congenital heart defects, especially those found later in childhood or adulthood can be treated with medications. Also, some CHDs can’t be operated on, or can’t be completely repaired. In such cases, medication is an option.
Drugs like angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs), beta blockers, and medications that cause fluid loss (diuretics) can help ease stress on the heart by lowering blood pressure, heart rate and the amount of fluid in the chest. Certain medications can also be prescribed to help control irregular heartbeats (arrhythmias).
Some children with moderate to severe congenital heart defects require multiple procedures and surgeries throughout life. Except those with very simple defects, other children will require ongoing care, even after corrective surgery.
– Lifelong monitoring and treatment
Children with heart defect require lifelong monitoring even after undergoing corrective surgery. During childhood, monitoring is done by a pediatric cardiologist, and once the child turns into an adult the case is transferred to an adult cardiologist. A congenital heart defect can affect your child’s adult life, as it can contribute to other health problems. It is thus important to make the child aware of the significance of their ongoing care.
– Physical activity
Physical activity helps children strengthen their muscles and stay healthy. But, parents of children with congenital heart defects may worry about the risks of rough play and activity even after treatment. Consult your doctor how much and what kind of physical activity is best for your child. Although some children may need to limit the amount or type of exercise, many can participate in a normal or near-normal activity. Most children with congenital heart defects grow up to lead healthy, productive lives.
– Infection prevention
Depending on the type of congenital heart defect your child had, and the surgery used to correct it, your child may need to take extra steps to prevent infection. Sometimes, a congenital heart defect can increase the risk of infections — either in the lining of the heart or heart valves (infective endocarditis). Because of this risk, your child may need to take antibiotics to prevent infection before some medical or dental procedures. Children who are most likely to have a higher risk of infection include those whose defect was repaired with a prosthetic material or device, such as an artificial heart valve.
Coping and support
It’s natural for parents to get worried about their CHD-affected child’s health. Although many affected children can do the same things as non-affected children, here are a few things to keep in mind if your child has had a congenital heart defect:
– Feeding and Nutrition
Some babies and children who have congenital heart defects don’t grow and develop as fast as other children. This is because your child’s heart has to pump harder than normal because due to the defect causing tiredness while feeding. As a result, your child may not be able to eat enough. Poor feeding may cause your child to be smaller and thinner than other children. Developmental milestones such as rolling over, sitting, and walking may also get delayed. After treatments and surgery, growth and development often improve. Consult your doctor to devise a feeding schedule, and introduce any nutritional supplement if required so that you baby gets enough calories for proper growth and development.
– Developmental difficulties
Children with congenital heart defects may have had a long recovery time after treatment that may have hindered their growth. Some children’s difficulties may last into their school years, and they may have difficulties learning to read or write. Consult your child’s doctor about ways to help your child get through his or her developmental difficulties.
– Emotional issues
Children and teens with serious conditions or illnesses may suffer from emotional issues. Many children who have developmental difficulties may feel insecure about their abilities and may have emotional difficulties as they reach school age. Some may feel sad or frustrated with their body image and their inability to be like a “normal” kid. If you notice any emotional difficulties in your child, consult your doctor about ways you can help your child cope with these problems, which may include support groups for parents or a visit to a therapist or psychologist for your child.
– Support groups
Having a child with a serious medical problem isn’t easy and, depending on the severity of the defect, may be very difficult and frightening. However, it may bring in some comfort and hope by talking with other parents who’ve been through the same situation. Ask your child’s doctor if there are any local support groups.
Since the exact cause of most congenital heart defects is unknown prevention may not be possible. However, there are some things you can do that might reduce your child’s overall risk of birth defects and possibly heart defects, too, such as:
– Get rubella (German measles) vaccine – A rubella infection during pregnancy is considered as one of the possible causes of neonatal heart defect. Hence, as a preventive measure, it is suggested to get vaccinated before you try to conceive.
– Control chronic medical conditions – If you have diabetes, keeping your blood sugar in check can reduce the risk of heart defects in the newborn. If you have other chronic conditions, such as epilepsy, that require the use of medications, consult your doctor regarding the risks and benefits of these drugs.
– Avoid harmful substances – During pregnancy, do not consume any drugs, herbs or dietary supplements without consulting your doctor first. Smoking or drinking alcohol during pregnancy must be a total no-no. Also, avoid inhaling strong-smelling products like paint or chemical.
– Take a multivitamin with folic acid – Research has shown that daily consumption of 400 micrograms of folic acid reduces birth defects in the brain and spinal cord and may help reduce the risk of heart defects as well.