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.

A congenital heart defect may be diagnosed during pregnancy or after birth. Signs of certain heart defects can be seen on a routine pregnancy ultrasound test (fetal ultrasound).

After a baby is born, a healthcare professional might think there's a congenital heart defect if the baby has:

  • Growth delays.
  • Color changes in the lips, tongues or nails.

The healthcare professional may hear a sound, called a 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 quick test records the electrical activity of the heart. It shows how the heart is beating. Sticky patches with sensors, called electrodes, attach to the chest and sometimes the arms or legs. Wires connect the patches to a computer, which prints or displays results.
  • Echocardiogram. Sound waves are used to create images of the heart in motion. An echocardiogram shows how blood moves through the heart and heart valves. If the test 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 doctor inserts a thin, flexible tube called a catheter into a blood vessel, usually in the groin area, and guides it to the heart. This test can give detailed information on blood flow and how the heart works. Some heart treatments can be done during cardiac catheterization.
  • Heart MRI. Also called a cardiac MRI, this test uses magnetic fields and radio waves to create detailed images of the heart. A cardiac 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 heart problem and how severe it is.

Some congenital heart defects don't have a long-term effect on a child's health. They 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 need treatment soon after they're found. Treatment may include:

  • Medicines.
  • Heart procedures.
  • Heart surgery.
  • Heart transplant.

Medications

Medicines may be used to treat symptoms or complications of a congenital heart defect. They may be used alone or with other treatments. Medicines for congenital heart defects include:

  • Blood pressure drugs. Examples include angiotensin-converting enzyme (ACE) inhibitors, angiotensin 2 receptor blockers (ARBs) and beta blockers.
  • Water pills, also called diuretics. This type of medicine helps remove fluid from the body. They help lower the strain on the heart.
  • Heart rhythm drugs, called anti-arrhythmics. These medicines help control irregular heartbeats.

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 types of congenital heart defects in children can be repaired using thin, flexible tubes called catheters. Such treatments let doctors fix the heart without open-heart surgery. The doctor inserts a catheter through a blood vessel, usually in the groin, and guides it to the heart. Sometimes more than one catheter is used. Once in place, the doctor threads tiny tools through the catheter to fix the heart condition. For example, the surgeon may fix holes in the heart or areas of narrowing. Some catheter treatments 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 change in the heart.
  • Heart transplant. If a serious congenital heart defect can't be fixed, a heart transplant may be needed.
  • Fetal cardiac intervention. This is a type of treatment for a baby with a heart problem that's done before birth. It may be done to fix a serious congenital heart defect or prevent complications as the baby grows during pregnancy. Fetal cardiac intervention is rarely done and is only possible in very specific situations.

Some children born with a congenital heart defect need many procedures and surgeries throughout life. Lifelong follow-up care is important. The child needs regular health checkups by a doctor trained in heart diseases, called a cardiologist. Follow-up care may include blood and imaging tests to check for complications.

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.

[Music playing]

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.

[Music playing]

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 reduce exercise or sports activities. However, many others with a congenital heart defect can participate in such activities. Your child's care professional can tell you which sports and types of exercise are safe for your child.
  • Preventive antibiotics. Some congenital heart defects can increase the risk of infection in the lining of the heart or heart valves, called 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 if your child needs preventive antibiotics.

Coping and support

You may find that talking with other people who have been through the same situation brings you comfort and encouragement. Ask your healthcare team if there are any support groups in your area.

Living with a congenital heart defect may make some children feel stressed or anxious. Talking to a counselor may help you and your child learn new ways to manage stress and anxiety. Ask a healthcare professional for information about counselors in your area.

Preparing for your appointment

A life-threatening congenital heart defect is usually diagnosed soon after birth. Some may be discovered before birth during a pregnancy ultrasound.

If you think your child has symptoms of a heart condition, talk to your child's healthcare professional. Be prepared to describe your child's symptoms and provide a family medical history. Some congenital heart defects tend to be passed down through families. That means they are inherited.

What you can do

When you make the appointment, ask if there's anything your child needs to do in advance, such as avoiding food or drinks for a short period of time.

Make a list of:

  • Your child's symptoms, if any. Include those that may seem unrelated to congenital heart defects. Also note when they started.
  • Important personal information, including a family history of congenital heart defects.
  • Any infections or health conditions the child's birth mother has or had and if alcohol was used during pregnancy.
  • All medicines, vitamins or other supplements taken during pregnancy. Also include a list of medicines your child takes. Include those bought without a prescription. Also include the dosages.
  • Questions to ask your healthcare team.

Preparing a list of questions can help you and your healthcare team make the most of your time together. If your child is diagnosed with a congenital heart defect, ask the specific name of the condition.

Questions to ask the healthcare professional might include:

  • What tests does my child need? Do these tests need any special preparation?
  • Does my child need treatment? If so, when?
  • What is the best treatment?
  • Is my child at risk of long-term complications?
  • How can we watch 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 child's healthcare team may ask you many questions. Being ready to answer them may save time to go over any details you want to spend more time on. The healthcare team may ask:

  • When did you first notice your child's symptoms?
  • How would 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?
  • Does anything make your child's symptoms better?
  • Do you have a family history of congenital heart defects or congenital heart disease?
  • Has your child been growing and meeting developmental milestones as expected? (Ask your child's pediatrician if you're not sure.)
Dec. 07, 2024

Living with congenital heart defects in children?

Connect with others like you for support and answers to your questions in the Transplants support group on Mayo Clinic Connect, a patient community.

Transplants Discussions

jolinda
Transplant anti-rejection medications. What's your advice?

370 Replies Fri, Dec 13, 2024

lmctif
Liver transplant - Let's support each other

1618 Replies Tue, Dec 03, 2024

See more discussions
  1. Congenital heart defects (CHD). Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/heartdefects/facts.html. Accessed Feb. 28, 2021.
  2. Congenital heart defects. National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/congenital-heart-defects. Accessed Feb. 28, 2021.
  3. Libby P, et al., eds. Pericardial diseases. In: Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Elsevier; 2022. https://www.clinicalkey.com. Accessed March 2, 2022.
  4. Overview of congenital cardiovascular anomalies. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/overview-of-congenital-cardiovascular-anomalies. Accessed March 1, 2022.
  5. Tsintoni A, et al. Nutrition of neonates with congenital heart disease: Existing evidence, conflicts and concerns. Journal of Maternal-Fetal & Neonatal Medicine. 2019; doi:10.1080/14767058.2018.1548602.
  6. Hypoplastic left heart syndrome: An overview for primary care providers. Pediatrics in Review. 2019; doi:10.1542/pir.2018-0005.
  7. Otto CM, et al. 2020 ACC/AHA Guideline for the management of patients with valvular heart disease: A report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Journal of the American College of Cardiology. 2021; doi:10.1016/j.jacc.2020.11.018.
  8. Nimmagadda, R. Allscripts EPSi. Mayo Clinic. April 10, 2024.
  9. Tinker SC, et al. Use of benzodiazepine medications during pregnancy and potential risk for birth defects, National Birth Defects Prevention Study, 1997-2011. Birth Defects Research. 2019; doi:10.1002/bdr2.1497.
  10. Bacino CA. Birth defects: Causes. https://www.uptodate.com/contents/search. Accessed March 24, 2021.
  11. The impact of congenital heart defects. American Heart Association. https://www.heart.org/en/health-topics/congenital-heart-defects/the-impact-of-congenital-heart-defects. Accessed March 24, 2021.
  12. Pierpoint MA, et al. Genetic basis for congenital heart disease: Revisited: A scientific statement from the American Heart Association. Circulation. 2018; doi:10.1161/CIR.0000000000000606.
  13. Phillips SD (expert opinion). Mayo Clinic. May 4, 2021.