(See also Overview of Heart Defects Overview of Heart Defects About one in 100 babies is born with a heart defect. Some are severe, but many are not. Defects may involve abnormal formation of the heart's walls or valves or of the blood vessels that enter... read more .)
The aortic valve is the valve that opens with each heartbeat to allow blood to flow from the heart to the body. A normal aortic valve has three cusps, or leaflets.
The most common heart birth defect is bicuspid aortic valve. When the aortic valve is bicuspid, it may not open normally (a condition called aortic stenosis Aortic Valve Stenosis in Children Aortic valve stenosis is a narrowing of the valve that opens to allow blood to flow from the left ventricle into the aorta and then to the body. This defect makes the heart work harder to pump... read more ) or may not close normally, allowing blood to leak back into the heart instead of going to the body (called aortic regurgitation Aortic Regurgitation Aortic regurgitation is leakage of blood back through the aortic valve each time the left ventricle relaxes. Aortic regurgitation is due to deterioration of the aortic valve and the surrounding... read more ). Bicuspid aortic valve is the most common cause of aortic stenosis. People with a bicuspid aortic valve also are at risk for enlargement of the aorta Thoracic Aortic Aneurysms Thoracic aortic aneurysms are bulges (dilations) in the wall of the aorta in the part that passes through the chest (thorax). Thoracic aortic aneurysms may not cause symptoms, or they may cause... read more and infection of the heart valves (infective endocarditis Infective Endocarditis Infective endocarditis is an infection of the lining of the heart (endocardium) and usually also of the heart valves. Infective endocarditis occurs when bacteria enter the bloodstream and travel... read more ).
A bicuspid aortic valve may function normally and not cause problems in infants, older children, and adolescents, but it may cause problems in adulthood. The specific symptoms depend on the complications that develop. People with infective endocarditis may develop fever. If aortic stenosis or aortic regurgitation develops, the person may tire easily, and have shortness of breath, fainting, awareness of heartbeats (palpitations), and chest pain.
Doctors suspect a bicuspid aortic valve if they hear a heart murmur or a clicking sound during an examination with a stethoscope. Echocardiography is then done to confirm the diagnosis.
The aortic valve may need to be repaired or replaced if aortic regurgitation or stenosis occurs. Aortic stenosis can also sometimes be treated with balloon dilation during a cardiac catheterization procedure Cardiac catheterization About one in 100 babies is born with a heart defect. Some are severe, but many are not. Defects may involve abnormal formation of the heart's walls or valves or of the blood vessels that enter... read more . Progressive enlargement of the aorta in some people may require surgery to replace a portion of the aorta.
Because there is a family tendency (heredity) to bicuspid aortic valves, close relatives of people with a bicuspid aortic valve should undergo screening echocardiography.
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
American Heart Association: Common Heart Defects: Provides an overview of common birth defects of the heart for parents and caregivers
American Heart Association: Infective Endocarditis: Provides an overview of infective endocarditis, including summarizing antibiotic use, for parents and caregivers