Is Aortic Valve Calcification Genetic?

Disclaimer: This article is for informational purposes only and is not intended to diagnose any conditions. LifeDNA does not provide diagnostic services for any conditions mentioned in this or any other article.

The aortic valve is one of the heart’s key valves. It controls the flow of blood from the heart to the rest of the body. To do this job well, it needs to open and close smoothly with every heartbeat, about 100,000 times a day.

Over time, the valve’s structure may begin to change. In some people, this may even happen earlier than expected by a condition known as aortic valve calcification. When the valve becomes less flexible, it doesn’t open and close properly. This limits blood flow from the heart and forces the heart to work harder to pump blood through the narrowed valve.

Understanding how and why this happens is important not just for treating it, but for recognizing who may be at risk before serious complications develop.

You may want to read: What Does Genetics Tell About Your Exercise Heart Rate Recovery?

What Is Aortic Valve Calcification?

Aortic valve calcification happens when calcium slowly builds up on the valve leaflets, causing them to stiffen and harden. Over time, this buildup can make the valve that would allow blood to leave the heart less flexible, often leading to a condition called aortic stenosis. Aortic valve calcification is more common in older adults, but some younger individuals may also develop it, raising the question of whether genetic factors are involved.

Symptoms of Aortic Valve Calcification

Often in the early stages, aortic valve calcification doesn’t cause any symptoms. Many people don’t realize they have it until the valve becomes more narrowed or stiff, which can affect how well the heart pumps blood.

As the condition progresses, these symptoms may appear:

Shortness of breath – You may feel like you can’t catch your breath, especially during exercise or when walking uphill. This happens because your heart has to work harder to push blood through the narrowed valve.
Chest pain or tightness – You might feel pressure, squeezing, or pain in your chest, especially when being active or under stress. This occurs when your heart doesn’t get enough oxygen-rich blood.
Fatigue or weakness – Everyday activities like climbing stairs or walking short distances might make you feel very tired or worn out. The body may not be getting enough blood and oxygen due to reduced heart function.
Dizziness or fainting – You may feel lightheaded or even pass out. This can happen because blood flow to the brain is reduced when the heart struggles to pump through a narrowed valve.
Irregular heartbeat or a racing heart – You might notice that your heart skips a beat, beats too fast, or feels like it’s fluttering. This is called an arrhythmia and can be caused by strain on the heart.

These symptoms usually develop slowly over time but should not be ignored. If you experience any of them, especially if you have a family history of valve problems it isimportant to talk to your doctor. Early diagnosis can lead to better care and help prevent complications.

What Causes Aortic Valve Calcification?

The exact cause of aortic valve calcification isn’t fully understood, but several factors are known to increase the risk. These include both biological processes and lifestyle influences:

Aging: As we get older, calcium tends to accumulate in various body tissues, including the heart valves. Over time, this buildup can stiffen the aortic valve and affect its ability to open and close properly.
Chronic Inflammation: Long-term inflammation in the body, often due to other underlying conditions or immune responses, may lead to damage and scarring in the valve tissue, creating an environment where calcium deposits can form more easily.
High Blood Pressure and High Cholesterol: Elevated blood pressure puts extra stress on the heart and valves, while high cholesterol can lead to fatty plaque buildup. Both can injure the valve, promoting calcification over time.
Kidney Disease: Kidney problems affect how the body balances calcium and phosphate. When this balance is off, it can lead to excess calcium in the blood, which may deposit on the valves.
Lifestyle Factors: Habits like smoking, a poor diet, and lack of physical activity contribute to vascular damage, inflammation, and poor heart health—all of which can increase the risk of valve calcification.

Despite these risk factors, some people still develop aortic valve calcification without any clear external cause, suggesting that genetic predisposition may also play a role.

Genetics on Aortic Valve Calcification

An early sizable genetic study provided strong evidence that aortic valve calcification (AVC) can be influenced by inherited factors. Conducted by researchers within the CHARGE (Cohorts for Heart and Aging Research in Genomic Epidemiology) consortium, the study examined genetic data from thousands of participants to discover which genes might be linked to calcium buildup in heart valves.

Researchers looked at more than 6,900 individuals for signs of AVC and more than 3,700 for mitral annular calcification using CT scans. All participants were part of long-term population studies and were primarily of white European ancestry. Their findings were later confirmed in multiethnic groups, including African-American, Hispanic-American, and Asian-American cohorts.

A genetic variant called rs10455872 in the LPA gene , which affects lipoprotein(a), or Lp(a), levels, was strongly associated with aortic valve calcification. Individuals with this variant had more than twice the risk of developing AVC compared to those without it. This gene variant was also linked to clinical aortic stenosis (a severe narrowing of the aortic valve) and a higher likelihood of needing aortic valve replacement.

The role of the rs10455872 in AVC has further been confirmed in several recent studies including a GWAS study performed in almost 1 million participants. A total of 32 genomic loci were found to be associated with AVC in this recent study, of which 20 had not been previously discovered. The earlier study also identified two genetic variants near the IL1F9 gene, which is involved in inflammation, as potentially linked to calcification at mitral annular valve, another heart valve that separates the left atrium and left ventricle. However, these findings were not consistently replicated, so more research is needed on the role of this proinflammatory gene.

Research has consistently shown that genetics, especially variation in the LPA gene, plays a significant role in whether someone develops aortic valve calcification. While aging and lifestyle are important factors, some individuals may inherit a higher risk due to their genetic makeup.

Understanding this connection may help identify people at risk earlier, follow their heart health more closely, and eventually develop treatments that lower the lipoprotein(a) or stop its harmful effects.

Who Is at Higher Risk?

Aortic valve calcification can affect anyone, but some individuals are more likely to develop it due to age, genetics, or certain other health conditions. Knowing your risk can help you take preventive steps and talk to your doctor about screening, especially if you fall into one or more of these categories. Those at higher risk include:

Older Adults (Usually Over Age 65)
As people age, calcium naturally accumulates in body tissues, including the heart valves. This age-related buildup is the most common cause of aortic valve calcification.
People with a Family History of Heart Valve Disease
If close relatives have been diagnosed with aortic stenosis or other valve problems, you may be genetically predisposed to similar conditions.
Individuals with High Lipoprotein(a) Levels
Lipoprotein(a), or Lp(a), is a type of cholesterol that can contribute to plaque and calcium deposits in blood vessels and valves. Elevated levels are often inherited and increase the risk of valve calcification.
Those with Genetic Syndromes Affecting the Heart
Certain inherited conditions, such as bicuspid aortic valve or Marfan syndrome, can alter the structure or function of the heart and make calcification more likely at an earlier age.

Can You Prevent Aortic Valve Calcification?

While you can’t change your genes or stop the natural aging process, you can lower your risk of aortic valve calcification by taking care of your overall heart health. Here are practical ways to help protect your valves:

Eat a Heart-Healthy Diet: Focus on foods low in saturated fat, sodium, and added sugar. A diet rich in fruits, vegetables, whole grains, lean proteins, and healthy fats supports cardiovascular health and helps prevent calcium buildup.
Keep Cholesterol and Blood Pressure in Check: High cholesterol and hypertension can damage your heart valves over time. Regular checkups, medication (if prescribed), and lifestyle changes can help keep these under control.
Avoid Smoking: Smoking accelerates vascular damage, increases inflammation, and contributes to plaque and calcium buildup. Quitting smoking is one of the most effective ways to protect your heart and valves.
Stay Physically Active: Regular exercise strengthens the heart, improves circulation, and supports healthy blood pressure and cholesterol levels. Aim for at least 30 minutes of moderate activity most days of the week.
Manage Diabetes or Kidney Disease: Both conditions can affect how your body handles calcium and other minerals. Good management through medication, diet, and regular monitoring reduces the risk of calcification and other heart-related issues.

These healthy habits not only support heart valve function but may also slow the progression of existing calcification, helping you maintain better heart health for longer.