To diagnose congenital heart disease, your doctor will do a physical exam and listen to your heart with a stethoscope. You will be asked questions about your symptoms and medical and family history.
Tests to diagnose or rule out congenital heart disease include:
- Electrocardiogram (ECG). This painless test records the electrical signals in your heart. An ECG can diagnose many heart problems, including irregular heartbeats and blocked arteries. Sometimes, ECGs are done while you exercise, typically on a bike or treadmill. This method is called a stress test.
- Chest X-ray. These images can show changes in the size and shape of your heart and problems with your lungs.
- Pulse oximetry. A small sensor attached to your finger can estimate how much oxygen is in your blood.
- Echocardiogram. Sound waves (ultrasound) create images of the moving heart. Your doctor can use this test to see how your heart's chambers and valves are pumping blood through your heart. Echocardiograms may also be done while you exercise, typically on a bike or treadmill.
- Transesophageal echocardiogram. If more-detailed images of your heart are needed, your doctor may recommend a transesophageal echocardiogram. In this test, a flexible tube containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus). It's done while you are sedated.
- Cardiac CT scan and MRI. These tests create images of your heart and chest. Cardiac CT scans use X-rays. Cardiac MRI uses a magnetic field and radio waves to create images of your heart. For both tests, you lie on a table that slides inside a long tubelike machine.
- Cardiac catheterization. Your doctor might use this test to check blood flow and blood pressures in your heart. You'll be given sleeping medication. Then, the doctor gently inserts a catheter into an artery or vein in your groin, neck or arm and up to your heart. X-rays are used to guide the catheter to the correct position. Sometimes, dye is injected through the catheter. The dye helps blood vessels show up better on the images.
Congenital heart disease can often be treated successfully in childhood. However, some heart defects may not be serious enough to repair during childhood, but they can cause problems as you grow older.
Treatment of congenital heart disease in adults depends on how severe your heart problem is. You may simply be monitored, or you may need medications or surgery.
Relatively minor heart defects might require only occasional checkups with your doctor to make sure your condition doesn't worsen. Ask your doctor how often you need to be seen.
Some mild congenital heart defects can be treated with medications that help the heart work more efficiently. You might also need medications to prevent blood clots or to control an irregular heartbeat.
Surgeries and other procedures
Several surgeries and procedures are available to treat adults with congenital heart disease.
- Implantable heart devices. A device that helps control your heart rate (pacemaker) or that corrects life-threatening irregular heartbeats (implantable cardioverter-defibrillator or ICD) may help improve some of the complications associated with congenital heart defects.
- Catheter-based treatments. Some congenital heart defects can be repaired using catheterization techniques. These treatments allow a repair to be done without open-heart surgery. Instead, the doctor inserts a thin tube (catheter) into a leg vein or artery and guides it to the heart with the help of X-ray images. Once the catheter is positioned, the doctor threads tiny tools through the catheter to repair the defect.
- Open-heart surgery. If catheter procedures can't fix your heart defect, your doctor might recommend open-heart surgery.
- Heart transplant. If a serious heart defect can't be repaired, a heart transplant might be an option.
If you're an adult with congenital heart disease, you're at risk of developing complications — even if you had surgery to repair a defect during childhood. Lifelong follow-up care is important. Ideally, a cardiologist trained in treating adults with congenital heart defects will manage your care.
Follow-up care may include regular doctor checkups and occasional bloodwork and imaging exams to screen for complications. How often you'll need to see your doctor will depend on whether your congenital heart disease is mild or complex.
Coping and support
One important thing to do if you're an adult with congenital heart disease is to become educated about your condition. Topics you should become familiar with include:
- The name and details of your heart condition and its past treatment
- How often you should be seen for follow-up care
- Information about your medications and their side effects
- How to prevent heart infections (endocarditis), if necessary
- Exercise guidelines and work restrictions
- Birth control and family planning information
- Health insurance information and coverage options
- Dental care information, including whether you need antibiotics beforedental procedures
- Symptoms of your congenital heart disease and when you should contact your doctor
Many adults with congenital heart disease lead full, long and productive lives. But it's important not to ignore your condition. Become informed about your disease; the more you know, the better you'll do.
Preparing for your appointment
If you have a congenital heart defect, make an appointment with your doctor for follow-up care, even if you haven't developed complications. You'll likely be referred to a doctor trained in diagnosing and treating heart conditions (cardiologist).
Here's some information to help you get ready for your appointment.
What you can do
When you make the appointment, ask if there's anything you need to do in advance, such as restrict your diet or fast. Make a list of:
- Your symptoms, if any, including any that may seem unrelated to congenital heart disease, and when they began
- Key personal information, including a family history of heart defects and treatment you received as a child
- All medications, vitamins or other supplements you take and their doses
- Questions to ask your doctor
Take a family member or friend with you, if possible, to help you remember the information you get. For congenital heart disease, questions to ask your doctor include:
- What's the most likely cause of my symptoms?
- What tests do I need?
- What treatments are available? Which do you recommend for me?
- Are there diet or activity restrictions I need to follow?
- How often should I be screened for complications from my heart defect?
- I have other health conditions. How can I best manage these conditions together?
- Are there brochures or other printed material that I can have? What websites do you recommend?
Don't hesitate to ask other questions.
What to expect from your doctor
Your doctor is likely to ask you questions, including:
- Do your symptoms come and go, or do you have them all the time?
- How severe are your symptoms?
- Does anything seem to improve your symptoms?
- What, if anything, worsens your symptoms?
- What's your lifestyle like, including your diet, tobacco use, physical activity and alcohol use?