Symptoms

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.

Causes

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).

Risk factors

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.

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 heart problems present at birth (congenital heart defects) that affect the valve between the heart's upper left chamber (left atrium) and lower left chamber (left ventricle).

Mitral valve anomalies include:

• Thick or stiff valve flaps (leaflets)
• Deformed leaflets or leaflets that join together (fused)
• Problems with the cords that support the valve such as missing cords, short and thick cords, or cords attaching to the heart muscle near the mitral valve
• Heart tissue or heart muscle problems near the mitral valve
• More than one opening in the area of the mitral valve (double-orifice valve)

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

• Narrowing of the valve (mitral valve stenosis). Stiffening of the leaflets and narrowing of the opening of the mitral valve reduces blood flow from the left atrium to the left ventricle.
• Leaky mitral valve (mitral valve regurgitation). In this condition, the mitral valve flaps don't close tightly or they bulge backward (mitral valve prolapse) into the left atrium as your heart squeezes (contracts). As a result, the mitral valve leaks blood.

You can have both mitral valve stenosis and mitral valve regurgitation.

People with mitral valve anomalies also often have other congenital heart defects.

Diagnosis

Your doctor will do a physical exam and ask questions about your signs and symptoms and your medical and family history. Your doctor will listen to your heart with a stethoscope to check for a heart murmur, which can be a sign of mitral valve disease.

An echocardiogram is the main test used to diagnose congenital mitral valve anomalies. In an echocardiogram, sound waves create video images of your heart in motion. An echocardiogram can show the structure of the heart and heart valves and blood flow through the heart.

There are two types of echocardiograms. During a standard (transthoracic) echocardiogram, the technician presses a device (transducer) firmly against your skin, aiming an ultrasound beam through your chest to your heart. The transducer records the sound wave echoes from your heart. A computer converts the echoes into moving images.

If a standard echocardiogram doesn't give your doctor enough information, you may need a transesophageal echocardiogram. During this test, a flexible probe containing the transducer is guided down your throat and into the tube connecting your mouth to your stomach (esophagus).

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

Treatment

Treatment of congenital mitral valve anomalies depends on your signs and symptoms and how severe your condition is. Your doctor may monitor your condition with regular checkups.

You may eventually need surgery to repair or replace the mitral valve.

Mitral valve repair

Your doctor may recommend mitral valve repair when possible, as it saves your 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 (annulus) using an artificial ring

Mitral valve replacement

If the mitral valve can't be repaired, your doctor may recommend mitral valve replacement. In mitral valve replacement, your surgeon removes the damaged valve and replaces it with a mechanical valve or a valve made from cow, pig or human heart tissue (biological tissue valve).

Biological tissue valves wear down over time and eventually need to be replaced. If you have a mechanical valve, you'll need to take blood-thinning medications for life to prevent blood clots. Your doctor will discuss with you the benefits and risks of each type of valve and discuss which valve may be appropriate for you.

Biological tissue valves and mechanical valves may be used in children and adults. The specific valve used is chosen by the cardiologist, surgeon and family after evaluating the risks and benefits.

Follow-up care

Children and adults who have had surgery for congenital mitral valve anomalies or who have congenital mitral valve anomalies will need lifelong care provided by doctors trained in congenital heart conditions, such as pediatric and adult congenital cardiologists. Children and adults will need regular follow-up appointments to monitor for any changes in their condition. Sometime people need repeat valve repair or other surgeries to replace a valve that no longer works.