Aortopathy (aortic disease) refers to conditions that weaken your aorta. Types of aortopathy include aortic aneurysms and aortic dissections. Aortopathy can be familial or acquired. Risk factors include family history of aortic disease, tobacco use and hypertension. Medications, procedures and surgery are treatments your provider may recommend.
Aortopathy (aortic disease) refers to a group of conditions that can affect your aorta. Your aorta is the longest and largest artery in your body. It extends from your heart all the way down to your belly button. It’s responsible for sending oxygen-rich blood from your heart to the rest of your body. So, aortopathy can disrupt blood flow throughout your body and lead to serious complications.
Aortopathies are conditions that weaken your aorta. That’s dangerous because your heart pumps blood directly into your aorta. So, your aorta’s walls need to be strong to withstand the pressure. If your aorta’s walls are weak, they could burst (rupture) or tear (dissect). Exactly how aortopathy affects your aorta depends on the type you have.
There are several types of aortopathy. They include:
Familial (inherited) aortopathy is aortic disease that runs in families and has a genetic component. People with familial aortopathy have a gene variant that makes them more likely to develop aortic disease. Familial aortopathy usually affects the part of your aorta that’s in your chest (thoracic aorta), especially your aortic root or ascending aorta.
There are two general groups of familial aortopathy: syndromic and non-syndromic.
Syndromic aortopathy is also called syndromic heritable thoracic aortic disease. This means you have a genetic syndrome that affects your aorta and causes other changes in your body. Syndromes that can lead to aortic disease include:
Non-syndromic aortopathy is also called non-syndromic heritable thoracic aortic disease. This means you don’t have a genetic syndrome, but you have a gene variant that raises your risk of aortic disease. Scientists have linked genetic mutations in over 50 genes to aortopathy. Genes with a strong association include:
Thoracic aneurysms that run in families cause at least 1 in 5 cases of aortic disease.
If a biological family member had an aortic aneurysm or dissection, ask your provider about genetic testing. If you’ve been diagnosed with aortic disease, your family members may need genetic testing to learn if they face an increased risk.
Bicuspid aortopathy is also called bicuspid valve-associated aortopathy. This means you have aortic disease along with a congenital heart condition known as a bicuspid aortic valve (BAV). BAV is the most common congenital heart condition, affecting up to 1 in 50 babies.
Your aortic valve is one of four valves that function as “doors” to control blood flow through your heart. Your aortic valve manages blood flow from your left ventricle (your heart’s main pumping chamber) into your aorta.
A healthy aortic valve contains three flaps (leaflets) that open and shut to regulate blood flow. A bicuspid aortic valve only has two flaps. This may cause no serious problems for a while, but over time it can lead to complications.
If you have bicuspid aortopathy, your aortic valve only has two flaps plus your aorta is wider than it should be. Healthcare providers call this widening “dilatation.” People with a BAV are most likely to have dilatation in their aortic root or ascending aorta. These are the sections of your aorta closest to your heart.
Mild dilatation of your aorta may not cause problems. But if your aorta grows too wide, an aneurysm can form. The aneurysm leads to increased stress on the walls of the aorta which can lead to a rupture or dissection. People with bicuspid aortopathy are nine times more likely than those without the condition to have an aortic dissection.
It depends on the type of condition. Abdominal aortic aneurysms are the most common type of aortopathy, and they’re also the most common type of aneurysm. About 200,000 people in the U.S. are diagnosed with an AAA each year.
Up to 47,000 people die each year from all forms of aortopathy.
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Aortopathy often has no symptoms. That’s why it can be dangerous. See your healthcare provider for regular checkups, especially if you have risk factors.
An aortic aneurysm may cause symptoms when it’s close to rupturing. Warning signs before a rupture can include:
Aortic aneurysm ruptures and aortic dissections are life-threatening emergencies. Call 911 or your local emergency number if you experience the following symptoms:
There are several causes of aortopathy. Some you’re born with. Others you develop later in life.
Genetic syndromes and gene variants can cause aortic disease. Familial aortopathy is usually autosomal dominant. That means you just need one copy of a gene from one parent to inherit the condition. So, if one of your biological parents has familial aortopathy, you have a 50% chance of inheriting it.
Congenital heart disease is associated with aortopathy. That means congenital heart disease doesn’t necessarily cause aortic disease. But the two often occur together.
Congenital heart diseases associated with aortopathy include:
Aortopathy may also happen after certain congenital heart disease surgeries, including:
Atherosclerosis is plaque buildup in your arteries that gradually causes them to narrow. Atherosclerosis of the aorta is a leading cause of acquired aortopathy (aortic disease you develop later in life.
Risk factors for developing aortopathy include:
Aortic aneurysms and dissections often show no symptoms or warning signs. So, they may not be diagnosed until they’ve caused serious complications. But if you have risk factors, your provider may check your aorta for signs of disease.
Methods to diagnose aortopathy include:
Imaging tests that diagnose aortopathy include:
Each test has unique benefits and drawbacks. Your provider will explain which test you need and why.
Your provider may also use one or more of these tests to monitor your aorta over time. You may need imaging tests at regular intervals (like once a year). How often you need testing depends on your risk factors and current health of your aorta.
Treatment depends on the specific condition you have and your risk for complications. Your provider will tailor treatment to your situation and needs. Treatment options include lifestyle changes, medications, procedures and surgeries.
Lifestyle changes can help slow the progression of some aortic diseases and lower your risk of an aneurysm rupture. If you have aortic disease, it’s important that you:
Your provider may prescribe medication to help lower your blood pressure. Blood pressure medications reduce the force of your blood against your artery walls. This lowers your risk of aortic aneurysm rupture or dissection.
Medications you may take include:
Some people need a procedure or surgery to treat aortopathy. These include:
You can reduce your risk of developing aortopathy by following a heart-healthy lifestyle. Tips include:
Your healthcare provider is the best person to ask about your outlook. They’ll consider many factors, including:
Talk with your provider about what you can expect going forward.
Your provider will give you guidelines to follow for self-care. Follow those guidelines closely, and ask your provider if you have any questions. You may need to:
Pregnancy can be dangerous if you have aortic disease. Talk with your provider before planning a pregnancy to learn if it’s safe for you. You may need special care during your pregnancy (like more frequent imaging tests) to lower your risk of complications. Your provider may also need to adjust your medications to avoid ones unsafe for pregnancy.
Visit your provider for yearly checkups and keep all your follow-up appointments. Your provider will tell you how often you need to come in for testing.
If you were diagnosed with congenital heart disease as a child, you probably had a pediatric cardiologist who kept an eye on your condition. But when you turned 18, you may not have found a new specialist.
Many people get lost in the transition from pediatrics to adult medical care, according to research. If you were treated for congenital heart disease at a young age, it’s still important to work with a cardiologist in your adult years. This is true even if you feel totally fine. Your cardiologist will advise you on your risk for aortopathy and other conditions as you get older.
A note from Cleveland Clinic
Aortopathy is a serious condition that can be life-threatening without diagnosis and treatment. If you have a family history of aortic aneurysms or dissections, talk with your provider to learn your risk. Some people face a higher risk due to genetic conditions, congenital heart disease or lifestyle factors like tobacco use. Living a heart-healthy lifestyle can lower your risk of aortopathy and strengthen your whole body.
Last reviewed by a Cleveland Clinic medical professional on 08/08/2022.
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