Bicuspid aortic valve

Definition

Bicuspid aortic valve is the most common malformation of the heart valves. In this type of deformity, the aortic valve has only two cusps, which are rigid points such as that seen on leaves, instead of the three cusps normally present. This condition may lead to abnormalities in the flow of blood from the heart to the aorta, leading to changes in the function of the heart and lungs. Treatment consists of surgical repair or replacement of the valve.

Description

A valve is a device that allows a fluid to flow in only one direction in a defined path, thereby preventing back-flow of the fluid. The heart has four such valves, which allow the blood to flow in an orderly pattern through each of the four chambers of the heart and out into the largest artery of the body, the aorta. The aorta, in turn, branches into other blood vessels in the neck, limbs, and organs of the body to supply it with oxygenated blood.

The aortic valve divides the left ventricle of the heart and the aorta. It is the last valve before blood leaves the heart and passes into the aorta. The valve is formed during pregnancy and is normally composed of three separate cusps or leaflets, which, when closed, form a tightly sealed barrier that prevents backflow of blood from the aorta into the heart. Thus, when the heart contracts or pumps, the aortic valve opens and allows blood to pass from the heart into the aorta, and when the heart relaxes, the aortic valve closes and prevents backflow of blood from the aorta into the heart.

The three-cusp structure of the valve is essential for its proper function, and was noted as far back as the fifteenth century when the great master of the High Renaissance, Leonardo da Vinci, reported on his observations of anatomy and blood circulation. In bicuspid aortic valve, the aortic valve fails to form properly during development in the womb; for reasons that are unclear, two of the three cusps fail to separate properly and remain attached along one edge, resulting in an aortic valve with only two cusps.

The bicuspid aortic valve is the most common heart valve defect at birth, and many people live a normal life without even being aware of this condition. Unfortunately, bicuspid aortic valves are also more prone to disease than the normal three cusped valves. Over the years, conditions such as restricted blood flow to the aorta (aortic stenosis), backflow of blood from the aorta into the heart (aortic regurgitation, or aortic insufficiency) and valve infection (endocarditis) are often detected with associated symptoms during the adult years as progressive damage is done to the bicuspid aortic valve.

Other conditions that may occur with bicuspid aortic valve include aneurysm of the aorta (ballooning out of the aorta wall), and aortic dissection (a life-threatening split in the layers of the aorta).

Genetic profile

Most occurrences of bicuspid aortic valve appear to be sporadic (i.e., random, and not associated with a inherited defect) and are not passed on from parent to child. However, there have been some reports that the valve malformation appears in multiple members of the same family. In at least one report, this familial occurrence appears to be inherited in an autosomal dominant pattern with reduced penetrance (not showing the malformation, despite possessing the genetic cause for it). However, if there is some sort of genetic or inherited cause in some patients with bicuspid aortic valve, it has not been identified. For purposes of genetic counseling , bicuspid aortic valve can be regarded as a sporadic condition with an extremely low risk of being transmitted from parent to child.

Demographics

Bicuspid aortic valve has been reported to occur in 1-2% of the general population, and is the most common valve defect diagnosed in the adult population, accounting for up to half of the operated cases of aortic stenosis. For reasons that are unclear, bicuspid aortic valve is three to four times more likely in males than in females, though some researchers suggest that the condition may simply be diagnosed more in males because of the higher rates of calcium deposits in men that bring the aortic valve to medical attention.

Interestingly, bicuspid aortic valve is also found with other conditions, including the genetic disorder Turner's syndrome, or in patients with a malformation called coarctation of the aorta (narrowing of the aorta). It has been reported that approximately 35% of patients with Turner's syndrome and up to 80% of patients with coarctation of the aorta have an associated bicuspid aortic valve. The significance of these associations is unclear.

Signs and symptoms

Many people with bicuspid aortic valve experience no symptoms, and may live their entire lives unaware of the condition. However, progressive damage or infection of the valve may lead to three serious conditions: aortic stenosis, aortic regurgitation, or endocarditis.

As a person ages, calcium deposits on a bicuspid aortic valve making it stiff. Eventually, the valve may become so stiff that it does not open properly, making it more difficult for blood to leave the heart and pass into the aorta and resulting in aortic stenosis. When this blockage becomes serious enough, people may experience shortness of breath, chest pain, or fainting spells. These symptoms usually begin between the ages of 50 and 60 years old. Eventually, the blockage can become so bad that blood backs up in the heart and lungs instead of going out to supply the rest of the body with oxygen (congestive heart failure). Additionally, this condition can lead to thickening of the heart wall, which may cause abnormal heart rhythms leading to sudden death.

Aortic regurgitation results when the valve fails to close properly. People who develop this condition may become short of breath when exerting themselves. The extent of symptoms experienced by the patient depends on the severity of the aortic regurgitation.

Finally, bacteria may deposit on the malformed bicuspid aortic valve, causing endocarditis. People with endocarditis may have symptoms of lingering fevers, fatigue, weight loss, and sometimes damage to the kidneys or spots on their fingers and hands.

Other dangerous conditions associated with bicuspid aortic valve include aortic aneurysm and aortic dissection. People with aortic aneurysms usually do not experience symptoms unless the aneurysm ruptures, but people with aortic dissection experience tearing back pain. Aortic aneurysm rupture and aortic dissection are very dangerous and can rapidly lead to death if not promptly treated.

Diagnosis

Any of the symptoms of aortic stenosis, aortic regurgitation, or endocarditis should prompt a search for an underlying malformation of the aortic valve. Aortic stenosis or regurgitation is diagnosed by a combination of physical exam, cardiovascular tests and imaging. The earliest sign of aortic valve problems is a murmur (the sound of abnormal patterns of blood flow) heard with a stethoscope. When the valve has high levels of calcium deposits, a characteristic clicking sound can also be heard with the stethoscope just as the stiff valve attempts to open. Later signs include a large heart seen on x ray or by a special electrical test of the heart, called an ECG or EKG (electrocardiogram).

If these signs are present, it suggests that the aortic valve may be damaged. The next test to be performed is echocardiography, a method that uses ultrasound waves to look at the aortic valve, similar to the way in which ultrasound is used to look at a fetus during pregnancy. Often, only two cusps are seen on the aortic valve during the echocardiography, confirming a diagnosis of bicuspid aortic valve.

Endocarditis is diagnosed by demonstrating the presence of bacteria in the blood stream. This is performed by taking blood from the patient and growing the bacteria on plates with specialized nutrients. Skilled technicians can then use different tests to identify which species of bacteria is present so that appropriate treatment can be started. The diagnosis of endocarditis is also confirmed by using echocardiography to look for bacterial growths on the aortic valve. During the echocardiography, a bicuspid valve is often seen and explains the tendency to develop endocarditis.

Treatment and management

Most people with bicuspid aortic valve will not experience any complications or symptoms and will not require treatment. However, in patients with any complication of valve damage, as previously discussed, treatment may be necessary.

In younger patients who have aortic stenosis, a procedure can be performed in which a small balloon is inserted through one of the major blood vessels and into the aortic valve. The balloon is then inflated, creating a bigger opening for blood to pass. Alternatively, an "open heart" procedure can be performed to cut the valve into a more normal configuration. These treatments are usually temporary, and later in life the patient, as well as any adult with advanced aortic stenosis, will most likely require aortic valve replacement.

Valve replacement is an "open heart" operation where the original malformed valve is removed and replaced with a new valve. This new valve can come from a human donor who has died, or from cows or pigs, or even from another part of the patient's heart. These valves function well, but may need to be replaced after 10 to 20 years, as they wear out. Another option is to use an artificial valve made of metal, plastic, or cloth. However, people who receive these artificial valves need to take blood thinners every day in order to prevent blood clots from forming on the new valve.

Patients with endocarditis need to be hospitalized and treated with high does of antibiotics given through a vein for several weeks. Damage done to the valve by the bacteria may make it necessary for a valve replacement procedure to be performed after the patient has recovered from the infection.

In any case, people who have been identified as having bicuspid aortic valve should be followed regularly by a cardiologist, with possible consultation with a cardiothoracic surgeon. The function of the bicuspid aortic valve should be followed through the use of echocardiography, and the state of the heart itself should be followed by regular electrocardiograms.

It should be noted that children with aortic stenosis may not be able to engage in vigorous physical activity without the risk of cardiac arrest and should consult their physician. In addition, all people with bicuspid aortic valve should receive antibiotics prior to any dental procedure or surgery; these procedures may allow bacteria to enter the blood stream and could result in endocarditis if antibiotics are not given beforehand.

Prognosis

Most people born with bicuspid aortic valve experience no symptoms or complications, and their lives do not differ from someone born with a normal aortic valve. In patients who do experience complications and require valve replacement, risks of the operation generally depend on age, general health, specific medical conditions, and heart function. It is better to perform the operation before any of the advanced symptoms (shortness of breath, chest pain, fainting spells) develop; in patients without advanced symptoms, the risk of a bad outcome of surgery is only 4%. If a person with advanced symptoms chooses not to undergo surgery, the risk of death within three years is more than 50%. In general, valve replacement greatly reduces the amount and severity of symptoms and allows the patient to return to their normal daily activities without discomfort after they recover from the surgery.

Resources

PERIODICALS

Braunwald, E. Heart Disease: A Textbook of Cardiovascular Medicine. Philadelphia: Saunders, 1999.

Cotran, R. S. Robbins Pathologic Basis of Disease. Philadelphia: Saunders, 1999. pp. 566-570.

Friedman, W. F. "Congenital Heart Disease In The Adult." In Harrison's Principles of Internal Medicine, edited by A.S. Fauci. New York: McGraw-Hill, 1998.

ORGANIZATIONS

American Heart Association. 7272 Greenville Ave., Dallas, TX 75231-4596. (214) 373-6300 or (800) 242-8721. [email protected]. <http://www.americanheart.org>.

Congenital Heart Anomalies Support, Education, and Resources. 2112 North Wilkins Rd., Swanton, OH 43558. (419) 825-5575. <http://www.csun.edu/~hfmth006/chaser>.

WEBSITES

"Bicuspid Aortic Valve." OMIM—Online Mendelian Inheritance in Man. National Center for Biotechnology Information. <http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?109730>.

Oren Traub, MD, PhD