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.

  • 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.

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.

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.

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.

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.

To diagnose congenital heart disease in adults, your healthcare professional examines you and listens to your heart with a stethoscope. You are usually asked questions about your symptoms and medical and family history.

Tests

Tests are done to check the heart’s health and look for other conditions that may cause similar

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

  • Electrocardiogram (ECG). This quick test records the electrical activity of the heart. It shows how the heart is beating. Sticky patches with sensors called electrodes attach to the chest and sometimes the arms or legs. Wires connect the patches to a computer, which prints or displays results. An ECG can help diagnose irregular heart rhythms.
  • Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can tell if the heart is enlarged or if the lungs have extra blood or other fluid. These could be signs of heart failure.
  • Pulse oximetry. A sensor placed on the fingertip records how much oxygen is in the blood. Too little oxygen may be a sign of a heart or lung condition.
  • Echocardiogram. An echocardiogram uses sound waves to create pictures of the beating heart. It shows how blood flows through the heart and heart valves. A standard echocardiogram takes pictures of the heart from outside the body.

    If a standard echocardiogram doesn’t give as many details as needed, a healthcare professional may do a transesophageal echocardiogram (TEE). This test gives a detailed look at the heart and the body’s main artery, called the aorta. A TEE creates pictures of the heart from inside the body. It’s often done to examine the aortic valve.

  • Exercise stress tests. These tests often involve walking on a treadmill or riding a stationary bike while the heart activity is checked. Exercise tests can show how the heart responds to physical activity. If you can’t exercise, you might be given medicines that affect the heart like exercise does. An echocardiogram may be done during an exercise stress test.
  • Heart MRI. A heart MRI, also called a cardiac MRI, may be done to diagnose and look at congenital heart disease. The test creates 3D pictures of the heart, which allows for accurate measurement of the heart chambers.
  • Cardiac catheterization. In this test, a thin, flexible tube called a catheter is inserted into a blood vessel, usually in the groin area, and guided to the heart. This test can provide detailed information on blood flow and how the heart works. Certain heart treatments can be done during cardiac catheterization.

symptoms.

A person born with a congenital heart defect can often be treated successfully in childhood. But sometimes, the heart condition may not need repair during childhood or the symptoms aren’t noticed until adulthood.

Treatment of congenital heart disease in adults depends on the specific type of heart condition and how severe it is. If the heart condition is mild, regular health checkups may be the only treatment needed.

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

Medications

Some mild types of congenital heart disease in adults can be treated with medicines that help the heart work better. Medicines also may be given to prevent blood clots or to control an irregular heartbeat.

Surgeries and other procedures

Some adults with congenital heart disease may need a medical device or heart surgery.

  • Implantable heart devices. A pacemaker or an implantable cardioverter-defibrillator (ICD) may be needed. These devices help improve some of the complications that can occur 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 let doctors fix the heart without open-heart surgery. The doctor 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 fix the heart condition.
  • Open-heart surgery. If catheter treatment can’t fix congenital heart disease, open-heart surgery may be needed. The type of heart surgery depends on the specific heart condition.
  • Heart transplant. If a serious heart condition can’t be treated, a heart transplant might be needed.

Follow-up care

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

Follow-up care may include blood and imaging tests to check for complications. How often you need health checkups depends on whether your congenital heart disease is mild or complex.

If you have congenital heart disease, lifestyle changes may be recommended to keep the heart healthy and prevent complications.

If you were born with a heart condition, make an appointment for a health checkup with a doctor trained in treating congenital heart disease. Do this even if you aren’t having any complications. It’s important to have regular health checkups if you have congenital heart disease.

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 those that may seem unrelated to congenital heart disease, and when they began.
  • Important personal information, including a family history of congenital heart defects and any treatment you received as a child.
  • All medicines, vitamins or other supplements you take. Include those bought without a prescription. Also include the dosages.
  • Questions to ask your healthcare team.

Preparing a list of questions can help you and your healthcare professional make the most of your time together. You might want to ask questions such as:

  • How often do I need tests to check my heart?
  • Do these tests require any special preparation?
  • How do we monitor for complications of congenital heart disease?
  • If I want to have children, how likely are they to have a congenital heart defect?
  • Are there diet or activity restrictions I need to follow?
  • 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 healthcare team may ask you many questions, including:

  • Do your symptoms come and go, or do you have them all the time?
  • How bad are your symptoms?
  • Does anything seem to improve your symptoms?
  • What, if anything, makes your symptoms worse?
  • What’s your lifestyle like, including your diet, tobacco use, physical activity and alcohol use?
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  5. What are congenital heart defects? National Heart, Lung, and Blood Institute. https://www.nhlbi.nih.gov/health-topics/congenital-heart-defects. Accessed July 31, 2024.
  6. About valvular heart disease. Centers for Disease Control and Prevention. https://www.cdc.gov/heartdisease/valvular_disease.htm. Accessed June 5, 2021.
  7. Sellke FW, et al., eds. Congenital anomalies of the mitral valve. In: Sabiston and Spencer Surgery of the Chest. 10th ed. Elsevier; 2024. https://www.clinicalkey.com. Accessed Aug. 4, 2024.
  8. Overview of congenital cardiovascular anomalies. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/overview-of-congenital-cardiovascular-anomalies. Accessed Aug. 4, 2024.
  9. Congenital heart defects in children. https://www.mayoclinic.org/diseases-conditions/congenital-heart-defects-children/symptoms-causes/syc-20350074. Accessed Aug. 4, 2024.
  10. Heart valve disease. National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/hvd. Accessed Aug. 9, 2024.
  11. Libby P, et al., eds. Echocardiography. In: Braunwald’s Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Elsevier; 2022. https://www.clinicalkey.com. Accessed Aug. 16, 2024.
  12. Medical review (expert opinion). Mayo Clinic. Sept. 10, 2024.
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