Complications

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.

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?

Overview

Congenital mitral valve anomalies are types of heart valve disease that are present at birth. That means they are congenital heart defects. The conditions affect the valve between the heart's upper and lower left chambers. That valve is called the mitral valve.

Mitral valve anomalies include:

• Thick or stiff valve flaps, also called leaflets.
• Leaflets that are joined, also called fused.
• Leaflets that are too long.
• Leaflets with spaces between them.
• Changes in the cords that support the valve. This might include missing cords, short and thick cords, or cords that are too long.
• More than one opening in the area of the mitral valve. This is called a double-orifice valve.

Types

Types of heart valve disease caused by mitral valve anomalies include:

• Narrowing of the mitral valve, also called mitral valve stenosis. The valve flaps are stiff. The valve opening may be narrowed. Mitral valve stenosis reduces blood flow between the left heart chambers.
• Leaky mitral valve, also called mitral valve regurgitation. The valve flaps don't close tightly. Sometimes they push backward into the left upper heart chamber as the heart squeezes. As a result, the mitral valve leaks blood.

Some people have both mitral valve stenosis and mitral valve regurgitation.

Symptoms

Symptoms of congenital mitral valve anomalies may be serious or mild. Serious symptoms in babies and young children may include:

• Shortness of breath during feedings.
• Poor weight gain.
• A pale gray or bluish tint to the skin. Depending on skin color, these changes may be easier or harder to see.
• Heavy breathing.
• A fast heartbeat.
• Swelling in the legs, belly or around the eyes.

Sometimes, symptoms of congenital mitral valve anomalies don't appear until later in life, if at all. In older children and adults, symptoms may include:

• Trouble breathing, such as fast breathing or difficulty breathing during exercise.
• Chest pain or discomfort.
• Feeling very tired.
• Dizziness or fainting.
• Fast heartbeat or extra heartbeats

People with mitral valve anomalies also often have other heart conditions present at birth, which may cause other symptoms.

When to see a doctor

If you or your child has symptoms of heart valve disease, including congenital mitral valve anomalies, talk with a healthcare professional. You may be sent to a doctor trained in heart diseases, called a cardiologist.

Causes

The exact cause of congenital mitral valve anomalies is not known. The conditions happen when the unborn baby's heart does not grow the way it should during pregnancy. An unborn baby also is called a fetus.

Gene changes, certain medicines or health conditions, and environmental or lifestyle factors, such as smoking, may play a role.

Risk factors

Things that may raise the risk of congenital mitral valve anomalies include:

• Smoking. If you smoke, quit. Smoking during pregnancy or exposure to secondhand smoke can harm the hearts of unborn babies.
• Alcohol use. Drinking alcohol while pregnant is linked to a higher risk of heart conditions present at birth such as mitral valve anomalies.
• Some medicines. Taking some medicines during pregnancy may increase the risk of congenital heart defects. Examples of these medicines are lithium (Lithobid) for bipolar disorder and isotretinoin (Claravis, Myorisan, others), which is used to treat acne. Angiotensin-converting enzyme (ACE) inhibitors for high blood pressure also can increase your risk. Talk with your healthcare team about the medicines you take.
• Rubella, also called German measles. Having rubella during pregnancy can cause harmful changes in a baby's heart during pregnancy. A blood test done before pregnancy can determine whether you're immune to rubella. A vaccine is available for those who aren't immune.
• Diabetes. Careful control of blood sugar before and during pregnancy can reduce the risk of heart conditions in the baby. Diabetes that develops during pregnancy is called gestational diabetes. It generally doesn't increase a baby's risk of congenital heart defects.

Diagnosis

To diagnose congenital mitral valve anomalies, a healthcare professional does a physical exam and listens to the heart and lungs. A sound called a heart murmur may be heard.

A member of your healthcare team asks questions about the symptoms and medical and family history.

Tests

Imaging tests are done to diagnose congenital mitral valve anomalies.

An echocardiogram is the main test used to diagnose the condition. The test also is called a heart ultrasound. It uses sound waves to make pictures of the beating heart. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart.

There are different types of echocardiograms. The type done depends on the information the healthcare professional needs.

• Transthoracic echocardiogram. This is a standard echocardiogram test. It takes pictures of the heart from outside the body. The healthcare professional presses an ultrasound device firmly against the skin. Sound waves from the device go through the chest to the heart. The device records the sound wave echoes from the heart. A computer changes them into moving images.
• Fetal echocardiogram. This type of transthoracic echocardiogram is done during pregnancy to check the baby's heart. The ultrasound wand is moved over the pregnant person's belly.
• Transesophageal echocardiogram. This test takes pictures of the heart from inside the body. It may be done if the healthcare professional needs more information about the heart. During this test, the healthcare professional guides a thin tube called a catheter down the throat and into the esophagus close to the heart. The ultrasound device goes through the tube and moves near the heart.

Other tests, such as a chest X-ray or electrocardiogram (ECG or EKG), also may be done.

Treatment

Treatment depends on the symptoms and how severe they are.

Surgeries or other procedures

Some people with congenital mitral anomalies may need surgery to repair or replace the mitral valve.

Mitral valve repair

Mitral valve repair is done when possible, as it saves the heart valve. Surgeons may do one or more of the following during mitral valve repair:

• Patch holes in a valve.
• Reconnect valve flaps.
• Separate valve flaps that have fused.
• Separate, remove or reshape muscle near the valve.
• Separate, shorten, lengthen or replace the cords that support the valve.
• Remove excess valve tissue so that the leaflets can close tightly.
• Tighten or reinforce the ring around a valve, called the annulus, using sutures or an artificial ring.

Mitral valve replacement

If the mitral valve can't be repaired, the valve may need to be replaced. In mitral valve replacement, a surgeon removes the damaged valve. It's replaced with a mechanical valve or a tissue valve made from cow, pig or human heart tissue. The tissue valve also is called a biological tissue valve.

Biological tissue valves wear down over time. They eventually need to be replaced. While mechanical valves last longer, they do not last forever — especially in children. If you have a mechanical valve, you need blood thinners for life to prevent blood clots. Talk with your healthcare professional about the benefits and risks of each type of valve. The specific valve used is chosen by the cardiologist, surgeon and family after evaluating the risks and benefits.

Sometimes, people need another valve repair or surgery to replace a valve that no longer works.

Follow-up care

People born with congenital mitral valve anomalies need lifelong health checkups. It's best to be cared for by a healthcare professional trained in congenital heart conditions. These types of doctors are called pediatric and adult congenital cardiologists.