Congenital heart disease in adults

Date Updated: 04/21/2022

Overview

Congenital heart disease is one or more problems with the heart's structure that exist since birth. Congenital means that you're born with the condition. Congenital heart disease in adults and children can change the way blood flows through the heart.

There are many different types of congenital heart defects. This article focuses on congenital heart disease in adults.

Some types of congenital heart disease may be mild. But complex defects may cause life-threatening complications. However, advances in diagnosis and treatment continue to improve survival for those with congenital heart disease.

People with congenital heart disease need lifelong medical care. Treatment may include regular checkups (watchful waiting), medications or surgery. If you have adult congenital heart disease, ask your health care provider how often you need a checkup.

Symptoms

For some people, signs or symptoms of congenital heart disease aren't noticed until adulthood. Symptoms may return years after a congenital heart defect is treated.

Common congenital heart disease symptoms in adults include:

Irregular heart rhythms (arrhythmias)
Blue skin, lips and fingernails (cyanosis)
Shortness of breath
Feeling tired very quickly with activity
Swelling of body tissue or organs (edema)

When to see a doctor

If you're having worrisome symptoms, such as chest pain or shortness of breath, seek emergency medical attention.

If you have signs or symptoms of congenital heart disease or were treated for a congenital heart defect as a child, make an appointment to see your health care provider.

Causes

Researchers aren't sure what causes most types of congenital heart disease. Some congenital heart diseases are passed down through families (inherited).

To understand congenital heart disease, it helps to know how the heart typically works.

The heart is divided into chambers — two upper chambers (atria) and two lower chambers (ventricles).
The right side of the heart moves blood to the lungs through blood vessels (pulmonary arteries).
In the lungs, blood picks up oxygen and then returns to the left side of your heart through the pulmonary veins.
The left side of the heart then pumps the blood through the aorta and out to the rest of the body.

Congenital heart disease can affect any of these heart structures, including the arteries, valves, chambers and the wall of tissue that separates the chambers (septum).

Risk factors

Certain environmental and genetic risk factors might play a role in the development of congenital heart disease, including:

Genetics. Congenital heart disease appears to run in families (inherited). It's associated with many genetic syndromes. For instance, children with Down syndrome often have congenital heart defects. Genetic testing can detect Down syndrome and some other genetic conditions while a baby is still in the mother's womb.
German measles (rubella). Having rubella during pregnancy may affect how the baby's heart develops while in the womb.
Diabetes. Having type 1 or type 2 diabetes during pregnancy also may affect a baby's heart development. Gestational diabetes generally doesn't increase the risk of congenital heart disease.
Medications. Taking certain medications while pregnant can cause congenital heart disease and other birth defects. Medications linked to heart defects include lithium for bipolar disorder and isotretinoin (Claravis, Myorisan, others), which is used to treat acne. Always tell your health care provider about the medications you take.
Alcohol. Drinking alcohol while pregnant has been linked to an increased risk of heart defects in the baby.
Smoking. If you smoke, quit. Smoking during pregnancy increases the risk of congenital heart defects in the baby.

Complications

Congenital heart disease can contribute to other health concerns later in life. Complications may occur years after a congenital heart defect is treated.

Complications of congenital heart disease in adults include:

Irregular heartbeats (arrhythmias). Faulty heart signaling causes the heart to beat too fast, too slowly or irregularly. In some people, severe arrhythmias may cause stroke or sudden cardiac death if not treated. Scar tissue in the heart from previous surgeries can contribute to this complication.
Heart infection (endocarditis). Bacteria or other germs can enter the bloodstream and move to the inner lining of the heart (endocardium). Untreated, this infection can damage or destroy the heart valves or cause a stroke. If you are at high risk of endocarditis, your care provider may recommend taking antibiotics one hour before dental cleanings. Regular dental checkups are important. Healthy gums and teeth reduce the risk that bacteria will enter the bloodstream.
Stroke. A congenital heart defect can allow a blood clot to pass through the heart and travel to the brain, where it reduces or blocks blood supply.
High blood pressure in the lung arteries (pulmonary hypertension). Some congenital heart defects send more blood to the lungs, causing pressure to build. This eventually causes the heart muscle to weaken and sometimes to fail.
Heart failure. Heart failure (congestive heart failure) means the heart can't pump enough blood to meet the body's needs.

Adult congenital heart disease and pregnancy

It may be possible to have a successful pregnancy with mild congenital heart disease. A care provider may tell you not to get pregnant if you have a complex congenital heart defect.

Before becoming pregnant, talk to your health care provider about the possible risks and complications. Together you can discuss and plan for any special care needed during pregnancy.

Prevention

Some types of congenital heart disease occur in families (inherited). If you have or someone in your family has congenital heart disease, screening by a genetic counselor may help determine the risk of certain heart defects in future children.

Diagnosis

To diagnose congenital heart disease in adults, your health care provider 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 can be done to check the heart's health and look for other conditions that may cause similar signs and symptoms.

Tests

Tests to diagnose or confirm congenital heart disease in adults and children include:

Electrocardiogram (ECG). This painless test records the electrical signals in the heart. An ECG can tell how fast or slow the heart is beating. An ECG can help identify irregular heartbeats (arrhythmias).
Chest X-ray. A chest X-ray can show changes in the size and shape of the heart and the lungs.
Pulse oximetry. A small sensor attached to the finger can estimate how much oxygen is in the blood.
Echocardiogram. Sound waves (ultrasound) create images of the moving heart. An echocardiogram can show blood flow through the heart and heart valves. Echocardiograms may also be done while you exercise, typically on a bike or treadmill.
Transesophageal echocardiogram. If more-detailed images of the heart are needed, a transesophageal echocardiogram may be done. In this test, a flexible tube containing the transducer is guided down the throat and into the tube connecting the mouth to the stomach (esophagus).
Exercise tests or stress tests. These tests often involve walking on a treadmill or riding a stationary bike while the heart is monitored by ECG. Exercise tests help reveal how the heart responds to physical activity.
Heart CT scan and heart MRI. These tests create images of the heart and chest. A heart (cardiac) CT scans use X-rays. Cardiac MRI uses a magnetic field and radio waves. For both tests, you lie on a table that typically slides inside a long tubelike machine.
Cardiac catheterization. This test can be done to check blood flow and blood pressures in the heart. A doctor gently inserts a catheter into a blood vessel, usually in the groin, and up to the 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.

Treatment

Congenital heart disease can often be treated successfully in childhood. However, some types of congenital heart disease may not be serious enough to repair during childhood, but they may cause problems in adulthood.

Treatment of congenital heart disease in adults depends on the severity of the heart condition. Relatively minor congenital heart defects might require only occasional health checkups to make sure the condition doesn't worsen.

Other treatments for congenital heart disease in adults may include medications and surgery.

Medications

Some mild congenital heart defects can be treated with medications that help the heart work better. Medications may also be given 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 the 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 disease in adults.
Catheter-based treatments. Some types of congenital heart disease in adults can be repaired using thin, flexible tubes called catheters. Such treatments allow a repair to be done without open-heart surgery. The health care provider 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 repair the congenital heart defect.
Open-heart surgery. If catheter procedures can't fix a congenital heart defect, open-heart surgery may be needed.
Heart transplant. If a serious heart defect can't be repaired, a heart transplant might be an option.

Follow-up care

Adult with congenital heart disease are at risk of developing complications — even if surgery was done to repair the defect during childhood. Lifelong follow-up care is important. Ideally, a doctor trained in treating adults with congenital heart defects should manage your care.

Follow-up care may include regular health checkups and occasional bloodwork and imaging exams to screen for complications. How often you'll need to see your health care provider 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 the heart condition and how it's been treated
How often you should have health checkups
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 before dental procedures
Symptoms of your specific type of congenital heart disease and when you should contact your doctor

Preparing for an appointment

If you have a congenital heart defect, make an appointment with a doctor trained in diagnosing and treating heart conditions (cardiologist) for follow-up care, even if you haven't developed complications.

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 avoiding food or drinks for a short period of time. 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 health care provider

For congenital heart disease, questions to ask your care provider 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 health care provider 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?