Diagnosis

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).

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.)