What are the other Names for this Condition? (Also known as/Synonyms)

• Aortic Stenosis
• AVS (Aortic Valve Stenosis)
• Valvular Aortic Stenosis

What is Aortic Valve Stenosis? (Definition/Background Information)

• Aortic Valve Stenosis (AVS) is a condition characterized by narrowing of the heart's aortic valve opening. This narrowing prevents the valve from opening fully, which obstructs blood flow from the heart into the aorta, and onward to the rest of the body
• AVS can range from mild to severe. Signs and symptoms typically develop when the narrowing of the opening is severe and may include chest pain (angina) or tightness; shortness of breath or fatigue (especially during exertion); feeling faint or fainting; heart palpitations; and heart murmur
• Individuals with less severe congenital Aortic Valve Stenosis (present at birth) may not develop symptoms until adulthood. Individuals with severe cases may faint without warning
• The condition can eventually lead to heart failure. AVS can have several causes including abnormal development before birth (such as having 1 or 2 valve leaflets instead of 3); calcium build-up on the valve in adulthood; and rheumatic fever
• Treatment of Aortic Valve Stenosis may include medications to ease the symptoms, but surgery to repair or replace the valve is the only way to eliminate the condition

(Source: Aortic Valve Stenosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Aortic Valve Stenosis? (Age and Sex Distribution)

• Aortic Valve Stenosis is a rare disorder. In the congenital form, the presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Aortic Valve Stenosis? (Predisposing Factors)

The risk factors for Aortic Valve Stenosis may include:

• A family history of being born with biscuspid heart valves
• Structural abnormality in the heart at birth
• Rheumatic fever
• Calcium build-up in the valves

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Aortic Valve Stenosis? (Etiology)

In most cases, the exact underlying cause of congenital Aortic Valve Stenosis is unknown.

• When the condition is congenital, it is typically due to abnormal development of the aortic valve - either it forms abnormally narrow, or it is made up of one flap or leaflet (called a unicuspid valve, which is very rare) or two leaflets (bicuspid valve) instead of the usual three
• Aortic valve stenosis can also be caused by the buildup of calcium deposits on the heart valve with increasing age. This cause is most common in people older than 65 years
• Rheumatic fever can also cause the condition because it may result in scar tissue forming on the valve, causing the leaflets to stiffen and fuse. Rheumatic fever can also cause a rough surface on the valve, which can lead to accumulation of calcium deposits later in life

(Source: Aortic Valve Stenosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Aortic Valve Stenosis?

The signs and symptoms of Aortic Valve Stenosis may vary among affected individuals, depending on the extent of narrowing in the aortic valve opening. Whereas some of those affected may be asymptomatic, others may exhibit the following signs and symptoms:

• Heart palpitations 
• Heart murmur
• Chest pain (angina) or tightness
• Shortness of breath or fatigue (especially during exertion) 
• Feeling faint or fainting

(Source: Aortic Valve Stenosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Aortic Valve Stenosis Diagnosed?

Aortic Valve Stenosis is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory test
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Aortic Valve Stenosis?

The complications of Aortic Valve Stenosis may include:

• Blood clots 
• Stroke
• Heart attack

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Aortic Valve Stenosis Treated?

• The treatment for Aortic Valve Stenosis may include medications to ease the symptoms
• But, surgery to repair or replace the valve is the only way to eliminate the condition

(Source: Aortic Valve Stenosis; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Aortic Valve Stenosis be Prevented?

• Currently, congenital Aortic Valve Stenosis may not be preventable
• If there is a family history of members being born with bicuspid valves, then genetic counseling will help assess risks, before planning for a child
• Seeking prompt medical treatment for rheumatic fever with proper follow-up may help minimize development of adult AVS
• Active research is currently being performed to explore the possibilities for treatment and prevention of disorders such as Aortic Valve Stenosis
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Aortic Valve Stenosis? (Outcomes/Resolutions)

• The prognosis of Aortic Valve Stenosis is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Aortic Valve Stenosis:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/