Congenital Valve Disease

Treating Cardiovascular Diseases in Wisconsin and Northern Illinois

Your heart has four valves that open and close with each heartbeat. Their job is to make sure your blood flows in only one direction as it passes through the four chambers of your heart and on to the rest of your body. The heart’s upper chambers are known as atria; the lower chambers are ventricles.

Congenital heart valve disease occurs when your valves do not form correctly before birth. Your valves may an abnormal number of leaflets, or tissue flaps; the leaflets may be the wrong size or shape; or they may lack an opening for blood to flow through. These conditions can interfere with your heart’s pumping ability, causing it to work harder. 

Types of Congenital Valve Disease

One of the most common types of congenital valve disease affects the aortic valve. This one-way valve separates the left ventricle from the aorta, which is the main artery that distributes blood from the heart to the body. Instead of having the normal three leaflets, the valve has only two. This condition is called bicuspid aortic valve disease, or BAVD. It affects about 2 percent of the population. Less common aortic valve abnormalities include a single aortic valve leaflet, known as a unicuspid aortic valve or a four leaflet valve, known as a quadricuspid aortic valve.

The pulmonary valve separates the right ventricle from the lungs.  Narrowing of this valve is known as pulmonary stenosis.  Mild to moderate pulmonary stenosis may not cause any symptoms.  Patients with severe pulmonary stenosis may develop cyanosis (bluish discoloration of the skin), chest pain, fatigue and shortness of breath.  Medications may be used to help the heart beat stronger, remove excess fluid, treat abnormal heart beats and improve the flow of blood through the heart.  If this is not effective, valvuloplasty or valve replacement may be necessary.

Tricuspid atresia is an uncommon heart condition in which the tricuspid valve is missing or abnormally developed.  The tricuspid valve separates the right atrium and right ventricle.  This abnormality prevents or severely limits the flow of blood between the two chambers.  The condition is usually diagnosed at birth or even in utero and always requires surgery.

Ebstein’s anomaly is a rare valvular heart defect involving the tricuspid valve.  The valve leaflets are usually larger than normal and located deeper in the right ventricle than expected.  This can cause blood to leak backward into the right atrium or have difficulty flowing out of the heart to the lungs.  This condition is often associated with other congenital heart defects.  This condition is more common in Caucasian individuals.  Some medications help prevent heart failure or improve symptoms.  If the condition is severe, surgical correction may be needed.

Subaortic stenosis is a narrowing in the heart just below the aortic valve.  This area is called the left ventricular outflow tract (LVOT). A ridge of tissue partially or completely surrounds the LVOT or a thin membrane of tissue covers the LVOT.  Both defects cause blood to hit the aortic valve leaflets in an abnormal fashion.  This can cause the leaflets to thicken and deteriorate prematurely.  This defect is twice as likely to occur in males than females.

Supravalvular stenosis is a narrowing in the aorta just above the aortic valve.  The valve leaflets often become thick and immobile, causing blood to leak back into the left ventricle.  The condition is uncommon and frequently associated with Williams syndrome which is characterized by elfin facial features, mental disability and high blood calcium levels.  In addition, defects in other arteries are often seen.

The mitral valve separates the left atrium and left ventricle.  The valve leaflets are connected to the ventricular wall by small bands of tissue called chordae which attach to the wall via two papillary muscles.  Congenital mitral valve disease can take several forms.  A “parachute mitral valve” involves a single papillary muscle with the chordae being fused or stuck together.  There can also be extra or enlarged papillary muscles or small, shortened chordae.  In addition, you can be born with an abnormal narrowing of the valve opening.  These defects can result in blood not easily flowing through the mitral valve or leaking back into the left atrium.

Symptoms of Congenital Valve Disease 

Many people with congenital valve disease, particularly BAVD, have no symptoms during their younger years. Perhaps their doctor may notice a slight heart murmur, but nothing serious. Usually, it’s not until mid-life when more obvious symptoms appear, such as:

  • Chest pain
  • Dizziness or fainting caused by inadequate blood flow to the brain
  • Fatigue
  • Shortness of breath
  • Stronger heart murmurs or palpitations

Many of these symptoms become noticeable during or after physical activity. They occur when calcium deposits form on and around the leaflets, causing the valve to stiffen and narrow, a condition known as stenosis.

Sometimes the deposits prevent the valve from closing completely, allowing blood to flow backward into the heart. This is known as regurgitation or valve insufficiency. This forces the heart to pump the same blood again, which puts an added strain on the heart. Over time, this can lead to dilated cardiomyopathy, heart failure or aortic aneurysms. It can also cause the aortic wall to tear, leading to a life-threatening condition referred to as aortic dissection.

Learn more about dilated cardiomyopathy symptoms, heart failure symptoms and aortic aneurysms

Causes and Risks for Congenital Valve Disease

The exact cause of bicuspid aortic valve disease is still unknown, but a genetic mutation has been identified in some patients. Because of the genetic connection, experts recommend screening first-degree relatives of patients with BAVD.

The exact cause of most other congenital valve diseases is unkown.

Diagnosing Congenital Valve Disease

When doctors recognize the heart valve condition, they typically refer their patients to a doctor who specializes in valvular heart disease.

Effective treatment begins with reliable cardiac tests, which may include:

Treating Congenital Valve Disease

Treatment depends on the severity of the symptoms. When symptoms are present at birth or in early infancy, surgical repair must be performed immediately. If the condition is diagnosed later in life and you have no symptoms, your health care provider is likely to monitor your condition very carefully.

When symptoms appear later in life, the goals of treatment are to minimize your symptoms and maximize your heart’s ability to pump blood. This helps prevent the condition from progressing and causing complications.

Medications may include:

  • Angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs) to control blood pressure, improve symptoms, enhance heart muscle function and protect the aorta against progressive enlargement
  • Beta blockers to help control blood pressure and slow the enlargement of the aorta, thereby reducing the risk of aortic tears
  • Calcium channel blockers to control blood pressure, heart rate and rhythm disturbances
  • Statins to treat cholesterol

Procedures may include:

  • Balloon valvuloplasty to help relieve symptoms and improve valvular stenosis. A catheter is inserted in the groin into a blood vessel and then threaded up to the aortic valve area. The balloon is inflated so the valve is stretched and the opening enlarges. This treatment is often reserved for patients who are very young or at high risk for surgical procedures.
  • Surgery to repair an aortic aneurysm may be necessary, with or without a valve replacement. This is performed with a special graft made of artificial material that replaces part of the aorta.
  • Valve repair or replacement surgery isused to treat valve regurgitation and stenosis, and provides the best long-term solution for treating severe valve disease. The valve can be replaced with a mechanical or tissue valve.

A Leader in Treating Congenital Valve Disease

Aurora Health Care offers the only specialty center in Wisconsin for treating adult congenital heart disease. Whether you’ve been newly diagnosed with congenital valve disease or have lived with it for years, you should have your condition monitored and treated by a team that specializes in these conditions.

At the Adult Congenital Heart Disease Center, we offer you access to some of the most respected experts in the field. A. Jamil Tajik, MD is a world-renown expert in the diagnosis and treatment of complex cardiovascular conditions. He leads a multidisciplinary team that specializes in adult congenital heart disease.

Aurora doctors are conveniently located throughout eastern Wisconsin and northeastern Illinois. Find a doctor or heart specialist near you. To get a second opinion or if you need assistance finding a provider, please call 888-649-6892.