Aortic valve stenosis (AVS) can result from heart abnormalities that may be hereditary, but it commonly develops in older adults due to scarring and calcium buildup in the valve cusps.

The valve cusps are the flaps or folds of tissue on the valve that open and close with each heartbeat.

AVS is a type of heart valve disease. People may also call it aortic stenosis or a failing heart valve.

If a person has AVS, their aortic valve has narrowed. This valve allows blood flow from the heart to the main artery, or aorta. Blood flows out to the rest of the body from the aorta.

If someone has AVS, their aortic valve does not open fully, which stops or reduces the blood flow from the heart. People with AVS may not have symptoms until they experience a significant reduction in blood flow.

This article discusses AVS and genetics in more detail. It also explores other AVS causes and risk factors, symptoms, treatments, and the potential outlook.

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Scientists have carried out several studies into AVS and genetics.

Some people have AVS due to a congenital heart abnormality called bicuspid aortic valve (BAV). People with BAV have two cusps in the valve instead of three. These parts help blood flow through a person’s heart. Research suggests that BAV has high heritability, meaning that someone with a family history of the condition is more likely to develop it.

Additionally, a 2022 study investigated AVS in people with and without BAV. The researchers found that calcific AVS heritability was significant. Calcific AVS can occur in people with or without BAV and results from calcium buildup. The researchers also suggested that further studies into the topic are necessary.

In a 2017 study,researchers investigated AVS in over 6 million siblings. They found that 4.8% of people with AVS had a sibling history of the condition and that having at least one sibling with AVS increases a person’s risk of developing the condition. Having more than one greatly increases a person’s AVS risk.

The researchers concluded that a person’s genetics contribute to AVS risk. They also noted further research is necessary to understand how.

The most common risk factor for AVS is older age. AVS is more common in older adults due to calcium buildup and scarring in the aortic valve cusps.

Other AVS causes may include:

AVS does not always produce symptoms. People who have mild AVS may only have minor symptoms, which they mistake as signs of aging. They may not have symptoms for 10 to 20 years after developing AVS.

AVS symptoms may include:

If a child or infant has AVS due to a congenital heart abnormality, they may have symptoms that include:

  • breathing problems
  • not feeding enough
  • not gaining weight
  • fatigue or tiredness when exerting themselves

People need to speak with a healthcare professional about any new or worsening AVS symptoms.

A doctor may diagnose a person with AVS during a regular health checkup or heart scan. If they have the condition, a healthcare professional may recommend regular follow-up checks and scans to monitor it.

People can manage mild symptoms of AVS by controlling underlying conditions, such as high blood pressure, high cholesterol, and obesity, by:

There is a link between gingivitis and endocarditis. People with AVS are more at risk of endocarditis. Therefore, daily dental care and routine dentist appointments are important.

However, the main treatment for AVS is aortic valve replacement (AVR), in which a surgeon replaces a person’s aortic valve using one of several techniques.

Doctors may not be able to predict how fast a person’s AVS will progress. It progresses at highly different rates from person to person.

For people with mild or worse AVS symptoms, AVR improves their outlook. Without AVR, a person’s average survival time is 1 to 3 years after they start having AVS symptoms.

AVS complications may include:

  • endocarditis
  • heart failure
  • pulmonary hypertension, which is where a person’s heart works harder to pump blood into their lungs
  • conduction abnormalities, or problems with the electrical system that controls a person’s heart rate and rhythm
  • increased risk of bleeding, especially gastrointestinal bleeding
  • embolisms, which are blockages in arteries

Without treatment, a person’s severe AVS is likely to worsen and may be life threatening.

Some people have aortic valve stenosis (AVS) due to a bicuspid aortic valve (BAV), which is a congenital heart abnormality. Research suggests that BAV has high heritability and AVS can run in families, so a person’s genetics may play a role in AVS. However, it most commonly occurs in older adults.

People with AVS may not have symptoms for some time. When they occur, symptoms may include chest pain, breathlessness, and lightheadedness.

Doctors typically recommend aortic valve replacement to treat AVS. People need to contact a healthcare professional if they think they may have AVS or have received an AVS diagnosis and are experiencing new or worsening symptoms.