Your heart has four valves. Their job is to make sure that blood flows in the right direction as it passes through your heart and onward to the rest of your body. These valves act like doors: They need to be properly formed, should open all the way so that the right amount of blood can pass through, and must close tightly so that no blood leaks back through the valve.

Sometimes, though, something goes wrong with one of the heart’s valves, making it unable to fully close or open. When this happens, blood flow through the heart is disrupted, which increases stress on the heart and can result in chest pain, shortness of breath, or in more severe cases, heart failure. 

Valve disease can occur in any of the heart’s four valves, but the one most frequently affected is the aortic valve. Fortunately, effective treatments are available that can help alleviate symptoms and even restore normal blood flow.

The aortic valve sits at the junction between the left ventricle (one of the heart’s four chambers) and the aorta, a large artery that carries blood from the heart to tissues and organs throughout the body. It has three leaflets, or flaps, that open and close to allow or stop blood from flowing into the aorta.

Normally, the aortic valve allows blood to move in one direction only, from the heart into the aorta. In aortic valve disease, however, the valve does not work correctly. It is usually caused by one of the following problems:

• Aortic stenosis is a condition in which the opening of the valve becomes narrowed. The heart has to work harder than usual to pump blood through the smaller opening, and less blood than normal reaches the aorta (and the rest of the body). This condition can result in heart failure, irregular heartbeat, and other heart problems. 
• Aortic insufficiency or regurgitation develops when the valve is unable to fully close. This allows blood to regurgitate, or leak, back into the heart. To compensate for this, the heart must work harder than normal to pump out an adequate supply of blood to the body. Eventually, however, the heart is no longer able to deliver enough blood to the body, which can result in heart failure.

Sometimes, stenosis and regurgitation can affect the valve at the same time.

Aortic heart valve disease can be congenital (meaning it is present from birth) or it can develop later in life.

Congenital aortic valve disease. About 1 to 2% of babies are born with a bicuspid aortic valve (BAV). Normally, the aortic valve has three leaflets, or cusps, but newborns who are born with a bicuspid valve only have two cusps. In some cases, the BAV is unable to open fully, leading to aortic stenosis. In other cases, however, the BAV cannot close completely, resulting in aortic insufficiency. Often, a BAV does not cause symptoms until adulthood. Other congenital aortic valve defects can also cause aortic stenosis or insufficiency.

Acquired aortic valve disease. A number of conditions can lead to aortic valve disease, including:

• Aging. Deterioration from wear and tear, and the buildup of calcium in the valve’s leaflets (making them stiff and consequently less able to open or close properly) can cause aortic stenosis or insufficiency. Aortic valve disease is most common among older people.
• Aortic dissection. A tear in the inner lining of the wall of the aorta can affect the functioning of the aortic valve.
• Trauma. Chest trauma can damage the aortic valve.
  
• Diseases and infections. Several diseases and infections can cause aortic valve disease, including rheumatic fever, endocarditis, Marfan syndrome, syphilis, rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, and high blood pressure.

People can have aortic valve disease for years without experiencing any symptoms. As the disease progresses, however, symptoms may begin to develop and can worsen over time. In some cases, however, symptoms appear suddenly.

Aortic valve disease can cause a number of symptoms, including:

• Shortness of breath (especially with physical activity, or in aortic valve insufficiency, when lying flat and at night)
• Chest discomfort, tightness, or pain
• Fainting, feeling faint, or dizziness
• Fatigue
• Weakness
• Heart palpitations
• Swelling of abdomen, feet, or ankles (in aortic valve insufficiency)
• Bounding pulse (a strong, pounding pulse with aortic valve insufficiency)

To diagnose aortic valve disease, your doctor will review your medical history, perform a physical exam, and run diagnostic tests.

They will begin to make a diagnosis by asking about your symptoms. During the physical exam, your doctor will check your blood pressure and pulse, and use a stethoscope to listen for a characteristic heart murmur or clicking sound.

To confirm a diagnosis, your doctor will need to run one or more diagnostic tests. The main test for aortic valve disease is an echocardiogram. This test uses sound waves to produce images of the heart as it moves. Other imaging tests may be necessary, including a chest X-ray, a magnetic resonance imaging (MRI) study of the heart, or a computed tomography (CT) scan.

Sometimes an electrocardiogram, also known as an ECG or EKG, is part of the workup. This test measures the heart’s electrical activity, and while it is not used to diagnose aortic valve disease, it helps doctors evaluate how well the heart is working. In some cases, you may perform light exercise, such as walking on a treadmill, while hooked up to an EKG monitor. This is called a stress test.

Diagnosis sometimes requires cardiac catherization. In this procedure, a doctor inserts a catheter (a thin tube) into a vein or artery in the arm, neck, or groin. The doctor maneuvers the catheter through the blood vessel to the heart. Once in place, tiny devices inserted through the catheter are used to measure the pressure in the heart’s chambers and the flow of blood through the heart’s valves. X-rays of the heart (known as a coronary angiography) may also be taken during this procedure.

Mild aortic valve disease may cause few or no symptoms. In these cases, treatment may not be necessary, but regular checkups with a health care provider to monitor the condition are recommended so that if the disease progresses, it can be caught and treated early.

Medications are used to treat symptoms. These may include drugs to help control blood pressure, diuretics (water pills) to rid the body of fluid accumulation caused by heart failure, and nitrates to increase blood flow.

People with moderate-to-severe aortic valve disease may also need to avoid strenuous physical activities and exercise.

While medications and avoidance of physically demanding activities can help to control symptoms, they cannot cure aortic valve disease. The disease is caused by changes to the physical structure of the valve (it becomes narrowed or can no longer open or close completely). Thus, the main treatments for aortic valve disease are repair or replacement of the valve.

Techniques for repairing or replacing the aortic valve include:

• Surgery. Aortic valve repair and replacement has been done via open-heart surgery for decades. It’s a well-established approach, and has proven to be safe. In some cases, a surgeon will perform a Ross procedure in which the defective aortic valve is replaced with the patient’s pulmonary valve. (An artificial valve replaces the pulmonary valve.) People with bicuspid aortic valve disease may develop an enlarged aorta. Because of this, they may need to have their aorta repaired or replaced using a procedure called valve-sparing aortic root surgery. In this procedure, a surgeon repairs or replaces part of the aorta, but does not replace the aortic valve.

• Balloon valvuloplasty. This is a repair procedure in which a doctor inserts a catheter with a balloon at its tip into a blood vessel, then maneuvers it to the heart and aortic valve. The balloon is inflated inside the valve, which expands the tissue and leaflets, thereby widening the narrowed valve. The doctor then deflates the balloon and removes it. 
• Transcatheter aortic valve replacement (TAVR). In this minimally invasive procedure, a doctor performs a balloon valvuloplasty to stretch out the old valve. The doctor then threads a new, artificial valve through a catheter to the heart. The new valve is placed inside the existing aortic valve where it performs the functions of the old valve. 

Artificial valves may come from a human or animal donor, or they may be made of a durable material such as titanium or carbon. People who receive an artificial valve will need to take a blood thinner for several months or longer to prevent blood clots.

People with mild aortic valve disease may not have any symptoms, but they should still see their doctor for regular checkups to monitor progression of the condition. This allows doctors to promptly detect the onset of symptoms and begin treatment before serious complications develop. Those who experience symptoms should seek medical treatment. People with aortic valve disease who receive an artificial valve usually have excellent outcomes.

“At Yale Medicine, patients with aortic valve disease may benefit from a variety of treatments,” says Yale Medicine cardiac surgeon Roland Assi, MD, MS. “Some are minimally invasive procedures and do not require open heart surgery. In other cases, open heart surgery is necessary. There are treatment options for all types of aortic valve disease, including congenital conditions such as bicuspid aortic valve. Aortic valve surgery is safe and has proven long-term benefits. It can help alleviate patients’ symptoms and prolong their lives.”