Diagnosis

Congenital heart defects FAQs

Pediatric cardiologist Jonathan Johnson, M.D., answers the most frequently asked questions about congenital heart defects in children.

Some very minor forms of congenital heart disease, like very small holes in the heart or very mild stenosis of different heart valves may just need to be followed every couple of years with some sort of an imaging study like an echocardiogram. Other more significant forms of congenital heart disease may require surgery that could be done via an open heart surgery, or it could be done in the cardiac catheterization lab using different devices or different techniques. In certain very severe situations, if surgery can't be performed, transplant may be indicated.

The specific symptoms that a child may have if they have congenital heart disease are really dependent on the age of the child. For infants, their biggest source of caloric expenditure is actually while eating. And thus most signs of congenital heart disease or heart failure actually come when they're eating. This can include shortness of breath, difficulty breathing, or even sweating while they're feeding. Younger children will often present with symptoms related to their abdominal system. They may have nausea, vomiting with eating, and they may get those symptoms with activity as well. Older teenagers meanwhile, tend to present more symptoms such as chest pain, fainting or palpitations. They also may present with symptoms during exercise or activity. And that's actually a really big red flag for me as a cardiologist. If I hear about a child, especially a teenager who's had chest pain, or has fainted with activity or with exercise, I really need to see that child and I need to make sure that they get an appropriate workup.

Often when your child has just been diagnosed with congenital heart disease, it's hard to remember everything that was said to you at that first visit. You can be in shock having just heard this news. And oftentimes you may not remember everything. So it's important in the follow-up visits to ask these types of questions. What do my next five years look like? Are there any procedures that are going to be needed in those five years? Any surgeries? What type of testing, what type of follow-up, what type of clinic visits are going to be needed? What does this mean for my child's activities, athletics, and the different things that they want to do on a daily basis. And most importantly, how do we work together to make this child be able to have as normal of a life possible despite that diagnosis of congenital heart disease.

You should ask your doctor what type of procedures may be needed for this form of congenital heart disease in the future. They may be performed using open-heart surgery, or they could be done using cardiac catheterization. For open-heart surgery, it's important to ask your doctor about the timing of that surgery. For the different, specific types of congenital heart disease, there is actually certain times where it's better to do the surgery than others to have the best possible outcome, both short- and long-term for that child. So ask your doctor if there's a particular time that works better for that particular disease and for your child.

This is actually the most common question I get from parents and from children after we make a diagnosis of congenital heart disease. Athletics is so important to many of these child's lives, to their friendship groups and how they interact with their communities. In most forms of congenital heart disease, we do our best to try to figure out a way that they can still participate. There are some forms of congenital heart disease, however, where certain sports may not be advised. For instance, for some of our patients, they may have a certain type of a genetic syndrome that makes the walls of their arteries very weak. And those patients, we don't want them weightlifting or doing any sort of heavy pushing that could cause those arteries to dilate and potentially rupture. In most cases though, we are able to figure out a way to have children play the sports that they love on a daily basis.

For our patients who have congenital heart disease, as they get older, we often counsel them that certain forms of congenital heart disease are heritable. This means that if a parent has congenital heart disease, there's a certain small risk that their child may also have congenital heart disease. This may be the same type of congenital heart disease that their parent has, or it may be different. Thus, if those patients become pregnant, we do need to monitor them closely during pregnancy, including doing extra scans of the fetus using echocardiography during the pregnancy. Fortunately, the vast majority of our congenital heart disease patients are able to have children of their own in the current era.

The relationship between a patient, their family and the cardiologist is critically important. We often follow these patients for decades as they get older. We watch them go from babies to adults. If something comes up that you're not clear about, but that doesn't make sense to you, ask questions. Please don't be afraid to reach out. You should always feel able to contact your cardiology team and ask them any questions that may arise.

After birth, a health care provider may suspect a diagnosis of a congenital heart defect if a child has growth delays or changes in the color of the lips, tongue or fingernails.

The care provider may hear a heart sound (murmur) while listening to the child's heart with a stethoscope. Most heart murmurs are innocent, meaning that there is no heart defect and the murmur isn't dangerous to your child's health. However, some murmurs may be caused by blood flow changes to and from the heart.

Tests

Tests to diagnose a congenital heart defect include:

  • Pulse oximetry. A sensor placed on the fingertip records the amount of oxygen in the blood. Too little oxygen may be a sign of a heart or lung problem.
  • Electrocardiogram (ECG or EKG). This noninvasive test records the electrical activity of the heart. Sticky patches with sensors (electrodes) are placed on the chest. Wires connect the patches to a computer, which displays results. An ECG can help diagnose irregular heart rhythms (arrhythmias).
  • Echocardiogram. An echocardiogram uses sound waves (ultrasound) to create images of the heart in motion. It shows how blood moves through the heart and heart valves. If an echocardiogram is done on a baby before birth, it's called a fetal echocardiogram.
  • Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can show if the heart is enlarged, or if the lungs contain extra blood or other fluid. These could be signs of heart failure.
  • Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel, usually in the groin area, and guided to the heart. Catheterization can provide detailed information on blood flow and how the heart works. Certain heart treatments can be done during cardiac catheterization.
  • Heart magnetic resonance imaging (MRI). A heart MRI may be done to diagnose and evaluate congenital heart defects in adolescents and adults. A heart MRI creates 3D pictures of the heart, which allows for accurate measurement of the heart chambers.

Treatment

Treatment of congenital heart defects in children depends on the specific type of heart problem and how severe it is. Sometimes, a congenital heart defect may have no long-term effect on a child's health and may safely go untreated. Other congenital heart defects, such as a small hole in the heart, may close as a child ages.

Serious congenital heart defects require treatment soon after they're diagnosed. Treatment may involve medications, heart procedures or surgeries, or a heart transplant.

Medications

Medications may be given to treat symptoms or complications of a congenital heart defect. They may be used alone or with a heart procedure. Medications for congenital heart defects include:

  • Blood pressure drugs. Examples include angiotensin-converting enzyme (ACE) inhibitors, angiotensin II receptor blockers (ARBs) and beta blockers.
  • Water pills (diuretics). This type of medication reduces the amount of fluid in the body, which reduces the strain on the heart.
  • Heart rhythm drugs. These medications, called anti-arrhythmics, help control an irregular heartbeat (arrhythmia).

Surgery or other procedures

If your child has a severe congenital heart defect, a heart procedure or surgery may be recommended. Heart procedures and surgeries done to treat congenital heart defects include:

  • Cardiac catheterization. Some congenital heart defects can be repaired using thin, flexible tubes (catheters) without the need for open-heart surgery. For example, cardiac catheterization may be used to fix holes in the heart or areas of narrowing.

    During cardiac catheterization, the health care provider inserts one or more catheters into a blood vessel, usually in the groin, and to the heart. Tiny tools are passed through the catheter to the heart to repair the defect. Some catheter procedures have to be done in steps over a period of years.

  • Heart surgery. A child may need open-heart surgery or minimally invasive heart surgery to repair a congenital heart defect. The type of heart surgery depends on the specific defect.
  • Heart transplant. If a serious heart defect can't be repaired, a heart transplant may be needed.
  • Fetal cardiac intervention. Rarely, if a serious defect is diagnosed before birth, a procedure can be done during pregnancy to correct the problem or help reduce complications of the defect as the child grows. Fetal cardiac intervention is rarely done and only possible in very specific circumstances.

Some children with congenital heart defects need many procedures and surgeries throughout life. After congenital heart defect surgery, a child will need regular checkups by a heart doctor (cardiologist).

Mayo Clinic Pediatric Cardiology and Cardiovascular Surgery

Pediatric heart specialists at Mayo Clinic Children's Center have extensive experience treating babies, children and teens with congenital heart disease. Learn more about Mayo Clinic's approach to care.

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Hope and healing for little hearts.

Joseph Dearani, M.D., Cardiovascular Surgery, Mayo Clinic: Congenital heart disease is common. Approximately one in a 100 live births have a congenital heart defect, so it's really one of the most common congenital birth defects. And the good news for parents and families is that the majority of defects can be fixed, oftentimes with one procedure alone and they can go on and live a very productive, normal or near-normal quality of life.

Jonathan Johnson, M.D., Pediatric Cardiology, Mayo Clinic: When my kids are seeing a team here at Mayo, I know that they're going to get the best care. I know that they're going to get the best expertise and I know they're going to be able to find that expert that they need to figure out what's going on and how best to treat them.

Dr. Dearani: If I look at my own practice, I do a lot of minimally invasive cardiac surgery. And I've gotten to do that because I learned it all in the adult population, which is where it started. So doing robotic heart surgery in teenagers is something that you can't get in a children's hospital because they don't have the technology available to them where we could do that here.

Dr. Johnson: Mayo Clinic pediatric cardiology and cardiac surgery excels at the rare, complex, unique patients where you need a multi-disciplinary approach from different specialists, different surgeons, all looking at, at the child and trying to figure out what the what's the best path forward for the child. And that's what we're known for our worldwide.

Dr. Dearani:The faculty and all of the allied health, in terms of nursing staff in the ICU and respiratory therapy and all of the other important members of the medical team, have this enormous history of experience. So that's what you get when you when you come to Mayo Clinic. You have clinicians and health care staff that are just really experienced taking care of these defects and that's probably one of the strongest reasons to consider Mayo Clinic.

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Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

If your child has a congenital heart defect, lifestyle changes may be recommended to keep the heart healthy and prevent complications.

Sports and activity restrictions

Some children with a congenital heart defect may need to limit exercise or sports activities. However, many others with a congenital heart defect can participate in such activities. Your child's care provider can tell you which sports and types of exercise are safe for your child.

Preventive antibiotics

Sometimes, a congenital heart defect can increase the risk of infection in the lining of the heart or heart valves (infective endocarditis). Antibiotics may be recommended before dental procedures to prevent infection, especially for people who have a mechanical heart valve. Ask your child's heart doctor (cardiologist) if preventive antibiotics are necessary for your child.

Coping and support

You may find that talking with other people who've experienced the same situation brings you comfort and encouragement. Ask your health care provider if there are any support groups in your area.

Living with a congenital heart defect can make some children feel stressed or anxious. Talking to a therapist or counselor may help you and your child learn new ways to manage stress and anxiety. Your care provider can suggest therapists who may be helpful to you or your child.

Preparing for your appointment

If your child has a life-threatening heart defect, it will likely be diagnosed soon after birth, or possibly before birth during a pregnancy ultrasound.

If you think your child has a heart defect that wasn't recognized at birth, talk to your child's health care provider. Be prepared to describe your child's symptoms and provide a family medical history, since some congenital heart defects tend to be passed down through families (are inherited).

Write down the following and bring the notes with you to your appointment:

  • Any signs and symptoms your child is having, including any that may seem unrelated to heart problems.
  • When each symptom began.
  • All medications, vitamins or supplements that the child's birth mother took during pregnancy. Include herbs and supplements and any medicines bought without a prescription.
  • Any medical conditions the birth mother of the child has or had.
  • Whether or not the birth mother drank alcohol during pregnancy.

What you can do

Preparing a list of questions can help you and your health care provider make the most of your time together. You might want to ask questions such as:

  • What tests does my child need? Do these tests require any special preparation?
  • Does my child need treatment? If so, when?
  • What is the best treatment?
  • Do you think my child will have any long-term complications?
  • How can we monitor for possible complications?
  • If I have more children, how likely are they to have a congenital heart defect?
  • Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting?

What to expect from your doctor

Your health care provider is likely to ask you many questions. Being ready to answer them may save time to go over anything you want to spend more time on. Your provider may ask:

  • When did you first notice your child's symptoms?
  • Can you describe your child's symptoms?
  • When do these symptoms occur?
  • Do the symptoms come and go, or does your child always have them?
  • Do the symptoms seem to be getting worse?
  • Do you have a family history of congenital heart defects?
  • Does anything make your child's symptoms better?
  • Has your child been growing and meeting developmental milestones as expected? (Ask your child's pediatrician if you're not sure.)

Congenital heart defects in children care at Mayo Clinic

May 03, 2022
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