Aortopathy

What is aortopathy?

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.

What are the types of aortopathy?

There are several types of aortopathy. They include:

• Abdominal aortic aneurysm (AAA): This is a weakness, or bulge, in the part of your aorta that travels through your abdomen (belly). AAAs usually affect people over age 65 who have a history of smoking or other cardiovascular disease risk factors. AAAs are dangerous because they can rupture and cause life-threatening bleeding.
• Thoracic aortic aneurysm (TAA): This is a weakness in the part of your aorta that travels through your thorax (chest). TAAs are less common than AAAs. But they’re more likely than AAAs to run in families. Like AAAs, the main risk of TAAs is a rupture.
• Aortic dissection: This is a tear in the inner layer of your aorta. It occurs at a spot where your aortic wall is weak. Sometimes that’s at the site of an aneurysm. But dissections also occur without a prior aneurysm. There are two main types of aortic dissection. Type A dissections occur in the part of your aorta that’s closest to your heart (before your aortic arch). Type B dissections occur after your aortic arch, either in your chest or belly. Aortic dissection is a life-threatening condition that needs immediate diagnosis and timely treatment.

What is familial aortopathy?

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

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:

• Loeys-Dietz syndrome.
• Marfan syndrome.
• Turner syndrome.
• Vascular Ehlers-Danlos syndrome.

Non-syndromic aortopathy

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:

• ACTA2 (most common).
• FOXE3.
• LOX.
• MYH11.
• MYLK.

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.

What is bicuspid aortopathy?

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.

Complications of bicuspid aortopathy

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.

How common is aortopathy?

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.

What are the symptoms of aortopathy?

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:

• Feeling full when you haven’t eaten a lot.
• Pain in your back, butt, groin, leg or belly that doesn’t go away.
• Pulsing sensation in your belly that feels like a heartbeat.
• Trouble breathing or shortness of breath.

Aortic aneurysm ruptures and aortic dissections are life-threatening emergencies. Call 911 or your local emergency number if you experience the following symptoms:

• Sudden, severe pain in your belly.
• Sudden, sharp, severe pain in your chest or upper back. This may feel like a tearing, stabbing or ripping feeling.
• Clammy or very sweaty skin.
• Confusion.
• Dizziness or fainting.
• Fast heartbeat.
• Nausea and vomiting.
• Shortness of breath.
• Trouble talking.
• Vision loss.
• Weakness or paralysis on one side of your body.

What causes aortopathy?

There are several causes of aortopathy. Some you’re born with. Others you develop later in life.

Genetics

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

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:

• Bicuspid aortic valve.
• Coarctation of the aorta.
• Pulmonary atresia with ventricular septal defect (VSD).
• Tetralogy of Fallot.
• d-Transposition of the great arteries.
• Truncus arteriosus.

Aortopathy may also happen after certain congenital heart disease surgeries, including:

• Arterial switch (ASO) operation.
• Atrial baffle (Mustard/Senning) operation.
• The staged Norwood, Glenn and Fontan surgeries.

Atherosclerosis

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.

What are the risk factors for developing aortopathy?

Risk factors for developing aortopathy include:

• Smoking and tobacco use: This is a huge risk factor. The vast majority of aortic aneurysms occur in people who smoke or who smoked in the past.
• High blood pressure (hypertension): This condition can weaken your aorta’s walls over time.
• Aging: Being over age 65 raises your risk for aortic aneurysms.
• Family history: You face a greater risk of aortic disease if a close biological family member had an aneurysm or dissection.
• High cholesterol or high triglycerides: High levels of fats (lipids) in your blood contribute to plaque buildup.
• Autoimmune disease: Autoimmune diseases such as Giant cell arteritis, Takayasu arteritis, and others can cause inflammation in the walls of the aorta causing it to weaken.
• Infection: Rarely infections such as syphilis and bacterial infections in the wall of the aorta can cause it to weaken.

How is aortopathy diagnosed?

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:

• Physical exam: Your provider will conduct a careful physical exam to check all aspects of your health. Your provider will also evaluate your risk factors for cardiovascular disease. This includes asking you about your medical history, lifestyle factors (like tobacco use) and family history.
• Genetic testing: Your provider may recommend genetic testing. This will show if you have genetic mutations linked to aortic disease.
• Imaging tests: Your provider may order imaging tests to see the size and health of your aorta. Such tests can help measure the diameter of your aorta to see if it’s wider than it should be.

What tests diagnose aortopathy?

Imaging tests that diagnose aortopathy include:

• Computed tomography (CT) scan.
• Magnetic resonance imaging (MRI).
• Transthoracic echocardiogram (TTE).
• Transesophageal echocardiogram (TEE).
• Abdominal ultrasound.

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.

What is the treatment for aortopathy?

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

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:

• Avoid alcohol.
• Avoid smoking and all tobacco products.
• Eat a heart-healthy diet.
• Exercise regularly (according to your provider’s guidance).
• Keep a weight that’s healthy for you.
• Manage cardiovascular disease risk factors like high blood pressure and high cholesterol.

Medications

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:

• Angiotensin converting enzyme (ACE) inhibitors.
• Angiotensin receptor blockers (ARBs).
• Beta-blockers.
• Calcium channel blockers.
• Diuretics.

Procedures and surgeries to treat aortopathy

Some people need a procedure or surgery to treat aortopathy. These include:

• Aneurysm surgery (traditional open surgery).
• Aortic root replacement surgery.
• Endovascular aneurysm repair (EVAR).
• Thoracic endovascular aneurysm repair (TEVAR).

How can I reduce my risk of developing aortopathy?

You can reduce your risk of developing aortopathy by following a heart-healthy lifestyle. Tips include:

• Avoid substance use: Tobacco, recreational drugs and alcohol don’t help your heart. In fact, they can harm your heart and blood vessels. Avoid tobacco and recreational drugs completely. When it comes to alcohol, learn what counts as one drink and limit your intake. Healthcare providers recommend no more than one drink per day for people assigned female at birth, and no more than two drinks per day for people assigned male at birth.
• Eat foods that help your heart: These include foods low in saturated fat, trans fat, sodium and sugar. Limit your refined carbohydrates (like white bread), and eat more whole grains (like wheat bread and brown rice). Plus, learn how nutrition affects your cholesterol levels.
• Exercise: There’s no one-size-fits-all approach to exercise. Do what you enjoy. And follow your provider’s guidance on the exercises that’re safe for you. In general, healthcare providers recommend 150 minutes of moderate-intensity exercise per week. This could include brisk walking, cycling or swimming.
• Manage stress: That’s usually easier said than done. But it’s important to try learning new strategies that help you deal with stress in your daily life. And talk with your family and friends about what works for them.

What is the outlook for people with aortopathy?

Your healthcare provider is the best person to ask about your outlook. They’ll consider many factors, including:

• The specific condition you have.
• How quickly your condition is progressing.
• Your age and sex assigned at birth.
• Your cardiovascular disease risk factors.
• Your family history.
• Your overall medical history.

Talk with your provider about what you can expect going forward.

How do I take care of myself if I have aortopathy?

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:

• Avoid intense exercise or contact sports.
• Limit or avoid alcohol.
• Make changes to your diet.
• Quit smoking or using tobacco products.
• Take medications.

Pregnancy and aortopathy

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.

When should I see my healthcare provider?

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.