Congenital mitral valve anomalies
Medically reviewed on December 5, 2017
Congenital heart disease (congenital heart defect) is one or more abnormalities in your heart's structure that you're born with. This most common of birth defects can alter the way blood flows through your heart. Defects range from simple, which might cause no problems, to complex, which can cause life-threatening complications.
Advances in diagnosis and treatment mean most babies who once died of congenital heart disease survive well into adulthood. However, signs and symptoms of the condition can occur in adults later in life, even those who had treatment as a child.
If you have congenital heart disease you might need care throughout your life. Check with your doctor to determine how often you should be seen as an adult.
Some congenital heart defects cause no signs or symptoms. For some people, signs or symptoms occur later in life. They can recur years after you've had treatment for a heart defect.
Common congenital heart disease symptoms you might have as an adult include:
- Abnormal heart rhythms (arrhythmias)
- A bluish tint to the skin, lips and fingernails (cyanosis)
- Shortness of breath
- Tiring quickly upon exertion
- 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 doctor.
Researchers aren't sure what causes most congenital heart disease, which develops in the womb. Heredity might play a role in some congenital heart disease.
How the heart works
The heart is divided into two chambers on the right and two on the left. To pump blood through the body, the heart uses its left and right sides differently.
The right side of the heart moves blood to the lungs through certain blood vessels (pulmonary arteries). In the lungs, blood picks up oxygen and then returns to the left side 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 the heart's structures, including valves, chambers, the wall of tissue that separates the chambers (septum) and arteries.
Why congenital heart disease resurfaces in adulthood
For some adults, problems with their heart defects arise later in life, even if treated in childhood. Repairing defects improves heart function, but might not make the heart completely normal.
Even if the treatment you received in childhood was successful, a problem can occur or worsen as you age. It's also possible that problems in your heart, which weren't serious enough to repair when you were a child, have worsened and now require treatment.
Then there are complications of childhood surgeries to correct congenital heart disease that can occur later, such as scar tissue in your heart that contributes to an abnormal heart rhythm (arrhythmia).
Certain environmental and genetic risk factors might play a role in the development of your heart defect, including:
- German measles (rubella). Your mother having had rubella while pregnant could have affected your heart development.
- Diabetes. Your mother having type 1 or type 2 diabetes might have interfered with the development of your heart. Gestational diabetes generally doesn't increase the risk of developing a heart defect.
- Medications. Taking certain medications while pregnant can cause congenital heart and other birth defects. They include isotretinoin (Amnesteem, Claravis, others), used to treat acne; and lithium, used to treat bipolar disorder. Drinking alcohol while pregnant also contributes to the risk of heart defects.
- Heredity. Congenital heart disease appears to run in families and is associated with many genetic syndromes. For instance, children with Down syndrome often have heart defects. Genetic testing can detect Down syndrome and other disorders during a baby's development.
- Smoking. A mother who smokes while pregnant increases her risk of having a child with a congenital heart defect.
Congenital heart disease complications that might develop years after the initial treatment include:
- Abnormal heart rhythms (arrhythmias). Arrhythmias occur when the electrical impulses that coordinate heartbeats don't function properly, causing your heart to beat too fast, too slowly or irregularly. In some people, severe arrhythmias can cause sudden cardiac death if not treated.
Heart infection (endocarditis). Your heart comprises four chambers and four valves, which are lined by a thin membrane called the endocardium. Endocarditis is an infection of this inner lining, which generally occurs when bacteria or other germs enter your bloodstream and lodge in your heart. Untreated, endocarditis can damage or destroy your heart valves or trigger a stroke.
If you have an artificial (prosthetic) heart valve or your heart was repaired with prosthetic material, or if your heart defect wasn't completely repaired, your doctor might prescribe ongoing antibiotics to lower your risk of developing endocarditis.
Stroke. Stroke occurs when the blood supply to a part of your brain is interrupted or severely reduced, depriving brain tissue of oxygen. A congenital heart defect can allow a blood clot to pass through your heart and travel to your brain.
Certain heart arrhythmias also can increase your chance of blood clot formation leading to a stroke.
Heart failure. Heart failure, also known as congestive heart failure, means your heart can't pump enough blood to meet your body's needs. Some types of congenital heart disease can lead to heart failure.
Over time, certain conditions such as coronary artery disease or high blood pressure gradually sap your heart of its strength, leaving it too weak or too stiff to fill and pump efficiently.
- Pulmonary hypertension. This is a type of high blood pressure that affects the arteries in your lungs. Some congenital heart defects cause more blood to flow to the lungs, causing pressure to build and making your heart work harder. This eventually causes your heart muscle to weaken and sometimes to fail.
- Heart valve problems. In some types of congenital heart disease, the heart valves are abnormal.
To determine whether you have a type of congenital heart disease or if the congenital heart defect is causing recent health problems, your doctor will take a medical history and conduct a physical exam, including listening to your heart with a stethoscope.
Your doctor then might order tests, including:
- Electrocardiogram (ECG). This measures the pace and amount of electrical activity of your heart to determine if the electrical activity is normal. An ECG can determine if a part of the heart is enlarged.
- Chest X-ray. These images help your doctor further evaluate your heart and lungs.
- Echocardiogram. Sound waves (ultrasound) produce images of the moving heart that your doctor can use to identify heart abnormalities.
- Transesophageal echocardiogram. This special type of ultrasound produces images of your heart that provide more information than does a standard echocardiogram. While you're sedated, your doctor places an instrument with a small ultrasound probe on the end into the tube that connects your throat with your stomach (esophagus).
- Pulse oximetry. A small sensor attached to a finger can estimate how much oxygen is in your blood.
Exercise stress test. Connected to ECG leads, you exercise on a treadmill or a stationary bicycle so that your doctor can determine your level of conditioning and your heart's electrical activity, heart rate and blood pressure during exercise.
If you can't exercise, your doctor might give you medication to increase your heart rate. Your stress test may also include an echocardiogram and special sensors to determine your oxygen use.
Cardiac CT scan or MRI. For a cardiac CT scan, you lie on a table inside a doughnut-shaped machine. An X-ray tube inside the machine rotates around your body and collects images of your heart and chest.
Cardiac MRI uses a magnetic field and radio waves to create images of your heart. You lie on a table 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 likely be given sleeping medication before a catheter is inserted into an artery, starting in your groin, neck or arm. It's then threaded to your heart with guidance from an X-ray machine.
Dye is injected through the catheter, and the X-ray machine makes images of your heart and blood vessels. The pressure in the heart chambers can be measured during this procedure.
Depending on the severity of your congenital heart disease, treatment might be aimed at correcting the congenital heart defect or dealing with complications caused by the defect. Treatment might include:
- Watchful waiting. Relatively minor heart defects might require only periodic checkups with your doctor to make sure your condition doesn't worsen. Ask your doctor how often you need to be seen.
- Medications. 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.
- Implantable heart devices. Devices that help control your heart rate (pacemaker) or that correct life-threatening irregular heartbeats (implantable cardioverter-defibrillator, or ICD) can help some of the complications associated with congenital heart defects.
Special procedures using catheters. Some congenital heart defects can be repaired using catheterization techniques, which allow the repair to be done without surgically opening the chest and heart.
In these procedures, the doctor inserts a thin tube (catheter) into a leg vein and guides it to the heart with the help of X-ray images. Once the catheter is in position, 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.
Needed follow-up care
Many adults with congenital heart disease believe they've either outgrown their condition or that childhood treatment cured them. This might not be true, depending on the type of defect.
If you have congenital heart disease, even if you had surgery as a child, you're at risk of developing complications. So it's important to have lifelong follow-up care, especially if you had corrective heart surgery.
This follow-up care could be as simple as having periodic checkups with your doctor, or it may involve regular screenings for complications. The important thing is to discuss your care plan with your doctor and make sure you follow all of your doctor's recommendations.
Ideally, a cardiologist trained in treating adults with congenital heart defects will manage your care.
Congenital heart disease and pregnancy
A successful pregnancy is possible if you have congenital heart disease, especially if your defect was mild. However, some women with complex congenital heart defects are advised against pregnancy.
Before you become pregnant, discuss with your doctor possible risks and special care you might need during pregnancy.
Both men and women with congenital heart disease are at increased risk of passing some form of congenital heart disease to their children. Your doctor might suggest genetic counseling if you plan to become pregnant.
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 before major dental 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 an 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?