Introduction: Who Should Undergo Diagnostics and When

Aortic disease affects the aorta, the largest artery in your body. This vital blood vessel carries oxygen-rich blood from your heart to every organ and tissue. When the aorta becomes diseased or damaged, the entire body’s blood supply can be at risk, and the situation can quickly become a serious medical emergency.^[1]

Many people with aortic disease do not realize they have it until symptoms appear or until a routine test picks it up by chance. In fact, about 95% of aortic aneurysms—bulges or swellings in the aorta—cause no symptoms at all. They are often discovered during screenings for other conditions.^[2] This is why knowing when to seek diagnostics is so important. Early detection can save lives.

You should consider seeking diagnostic tests if you experience sudden, severe symptoms that could suggest an aortic event. These include sudden stabbing or radiating pain, fainting, difficulty breathing, or sudden weakness on one side of your body. Other warning signs include clammy skin, nausea and vomiting, or even shock. Aortic disease can also mirror symptoms of a heart attack, such as chest pain or jaw pain. Because the aorta runs from above the heart all the way down below the navel, symptoms of pain can occur anywhere along the torso.^[1]

If you have a family history of aortic disease, you should discuss screening with your doctor. Genetics and family history contribute significantly to the risk of developing an aortic aneurysm or dissection.^[1] Additionally, age is a major factor in developing an aortic aneurysm, and people over 65 are at higher risk.^[2] Conditions such as high blood pressure, high cholesterol, atherosclerosis, or infections like endocarditis can also damage the aorta over time.^[6]

People born with certain heart valve abnormalities should also be vigilant. About 1 to 2% of babies are born with a bicuspid aortic valve, meaning their aortic valve has two leaflets instead of the normal three. This condition may not cause symptoms until adulthood, but it can lead to aortic stenosis or regurgitation over time.^[14] If you have a known bicuspid aortic valve, regular monitoring is essential.

Even without symptoms, screening can be advisable for certain groups. For example, people with genetic conditions such as Marfan syndrome, Turner syndrome, or polycystic kidney disease are at increased risk of aortic problems and should undergo regular imaging tests.^[6] Similarly, those with a history of rheumatic fever, syphilis, or autoimmune diseases like lupus or rheumatoid arthritis may benefit from periodic evaluations.^[14]

Doctors may also recommend screening if they hear an unusual heart sound, called a heart murmur, during a routine physical exam. A heart murmur is a whooshing or swishing sound caused by turbulent blood flow, and it can be a clue that something is wrong with the aortic valve or the aorta itself.^[9] If your doctor hears a loud unexplained systolic murmur, a single second heart sound, or knows you have a history of a bicuspid aortic valve, they will likely order further tests.^[12]

In summary, you should seek diagnostic testing if you have symptoms, a family history of aortic disease, known risk factors like high blood pressure or genetic conditions, or if your doctor detects abnormalities during a physical exam. Early and accurate diagnosis is the first step toward protecting your health and planning the best treatment.

Diagnostic Methods for Identifying Aortic Disease

Diagnosing aortic disease involves a combination of physical examination, patient history, and imaging tests. Each method provides valuable information that helps doctors identify the problem, determine its severity, and distinguish it from other conditions.

Physical Examination and Medical History

The diagnostic process usually begins with a physical exam. Your doctor will examine you and ask questions about your symptoms, medical history, and family history of heart disease. They will listen to your heart with a stethoscope to detect any abnormal sounds, such as a heart murmur. A heart murmur may suggest that the aortic valve is not working properly, either because it is narrowed (stenosis) or leaking (regurgitation).^[8][9]

Your doctor will also check your blood pressure, as high blood pressure is a major risk factor for aortic disease and can make existing problems worse.^[6] If you have experienced chest pain, shortness of breath, dizziness, or fainting, your doctor will want to know the details—when these symptoms started, how long they last, and what makes them better or worse.

Echocardiogram

An echocardiogram is one of the most important tests for diagnosing aortic disease. This test uses sound waves to create moving pictures of your beating heart. It shows how blood flows through the heart and heart valves, and it can reveal problems such as narrowing of the aortic valve, leakage, or enlargement of the aorta.^[8][9]

There are different types of echocardiograms. A standard echocardiogram, also called a transthoracic echocardiogram, is done from outside the body. The ultrasound device is gently pressed against the skin of your chest above the heart. If more detailed pictures are needed, your doctor may order a transesophageal echocardiogram (TEE). In this test, an ultrasound probe is attached to a thin tube and guided down your throat and into your esophagus, which sits close to the heart. This gives a clearer view of the heart and aorta from inside the body.^[9][13]

An echocardiogram can tell how severe aortic stenosis or regurgitation is and whether the heart muscle has been weakened by the disease.^[8] It is safe, non-invasive, and provides real-time information about your heart’s structure and function.

Electrocardiogram (ECG or EKG)

An electrocardiogram (also called an ECG or EKG) is a quick and simple test that records the electrical activity of your heart. Small sticky patches with sensors are placed on your chest and sometimes your legs. Wires connect the patches to a computer, which displays or prints the results.^[8][9]

This test shows how your heart beats and can reveal abnormal heart rhythms or signs that the heart’s chambers have become enlarged or thickened. In aortic stenosis, for example, the left ventricle (the heart’s main pumping chamber) may become thicker as it works harder to push blood through the narrowed valve. The ECG can detect these changes.^[8]

Chest X-Ray

A chest X-ray is a simple imaging test that creates pictures of the heart and lungs. It can show if the heart is larger than normal, which can happen when the heart has to work harder due to aortic disease. A chest X-ray can also reveal calcium deposits on the aortic valve, which is a sign of aortic stenosis.^[8]

While a chest X-ray is helpful, it does not provide as much detail as other imaging tests. It is often used as an initial screening tool, and if abnormalities are found, your doctor will order more detailed tests.

CT Scan (Computed Tomography Scan)

A CT scan (also called a computed tomography scan) uses X-rays and computer processing to create detailed, three-dimensional images of the inside of your body. A CT scan of the chest can show the size, shape, and condition of the aorta, including any bulges (aneurysms) or tears (dissections).^[13]

CT scans are especially useful for diagnosing aortic dissection, which is a tear in the inner layer of the aortic wall. This is a life-threatening emergency, and rapid, accurate diagnosis is crucial. A CT scan can show exactly where the tear is located and how far it extends.^[13]

In some cases, a contrast dye is injected into a vein before the scan to make the blood vessels show up more clearly on the images. This is called a CT angiogram. It provides even more detailed information about the aorta and surrounding blood vessels.

Magnetic Resonance Imaging (MRI) and Magnetic Resonance Angiogram (MRA)

An MRI (magnetic resonance imaging) scan uses magnetic fields and radio waves to create detailed pictures of the heart and aorta. Unlike CT scans, MRI does not use radiation. It is especially good at showing soft tissues and can reveal the structure and function of the aorta in great detail.^[9]

A magnetic resonance angiogram (MRA) is a type of MRI that focuses on the blood vessels. It can show how blood is flowing through the aorta and whether there are any blockages, aneurysms, or other abnormalities.^[13]

MRI and MRA are often used when doctors need very detailed images or when a patient cannot have a CT scan with contrast dye, such as people with kidney problems.

Ultrasound

In addition to echocardiography, other types of ultrasound can be used to examine the aorta. An abdominal ultrasound uses sound waves to see the part of the aorta that runs through the belly. This test is commonly used to screen for abdominal aortic aneurysms.^[13]

Ultrasound is safe, painless, and does not involve radiation. It is often used for routine screening in people at risk of developing an aneurysm.

Cardiac Catheterization

In some cases, doctors may perform a cardiac catheterization to get more information about the heart and aorta. During this procedure, a thin, flexible tube called a catheter is inserted into a blood vessel in the arm or groin and guided to the heart. Contrast dye is injected through the catheter, and X-ray images are taken to see how blood flows through the heart and coronary arteries.

Cardiac catheterization is more invasive than imaging tests like echocardiography or CT scans, so it is usually reserved for cases where other tests have not provided enough information or when doctors are planning a procedure or surgery.

Additional Tests

Depending on your symptoms and risk factors, your doctor may order additional tests. Blood tests can check for signs of infection, inflammation, or other conditions that might affect the aorta. For example, high cholesterol or markers of atherosclerosis can suggest that plaque buildup is contributing to aortic disease.^[6]

Your doctor may also perform a carotid ultrasound to check the arteries in your neck for blockages or narrowing, which can be related to atherosclerosis affecting the aorta.

In summary, diagnosing aortic disease involves a combination of listening to your heart, imaging the aorta with ultrasound, CT, or MRI, and sometimes using more invasive procedures like cardiac catheterization. Each test provides unique information that helps your doctor understand your condition and plan the best treatment.

Diagnostics for Clinical Trial Qualification

If you are considering participating in a clinical trial for aortic disease, you will need to undergo specific diagnostic tests to determine whether you are eligible. Clinical trials have strict criteria to ensure that participants are suitable for the study and that the results are reliable and meaningful.

The exact tests required for a clinical trial depend on the type of study and the condition being investigated. However, there are some common diagnostic methods that are typically used as standard criteria for enrolling patients.

Imaging Tests

Imaging tests are essential for qualifying patients for clinical trials. Researchers need to know the exact size, location, and severity of the aortic problem before you can be enrolled. Echocardiograms, CT scans, and MRI or MRA scans are commonly used to assess the condition of the aorta and heart valves.^[9][13]

For example, a clinical trial testing a new treatment for aortic aneurysms may require that participants have an aneurysm of a certain size, such as greater than 5 centimeters in diameter. The imaging test confirms whether you meet this criterion. Similarly, trials for aortic stenosis may require an echocardiogram to measure the severity of valve narrowing, such as a specific measurement of the valve opening area or the pressure gradient across the valve.^[8]

Functional Tests

Clinical trials may also require functional tests to assess how well your heart is working and how aortic disease is affecting your daily life. An electrocardiogram (ECG) is commonly used to check for abnormal heart rhythms or signs of heart strain.^[8]

Some trials may also ask you to undergo an exercise test, where you walk on a treadmill or ride a stationary bike while your heart rate, blood pressure, and symptoms are monitored. This helps researchers understand how your heart responds to physical activity and whether your symptoms are severe enough to qualify for the trial.

Blood Tests

Blood tests are often part of the screening process for clinical trials. These tests can check for markers of heart disease, inflammation, kidney function, and other conditions that might affect your eligibility. For example, if the trial involves a medication that is processed by the kidneys, researchers will check your kidney function to make sure it is safe for you to participate.

Medical History and Symptom Assessment

A detailed medical history and symptom assessment are also important for determining eligibility. Researchers will ask about your symptoms, such as chest pain, shortness of breath, dizziness, or fatigue, and how these symptoms affect your daily activities. They will also review your past medical history, current medications, and any other health conditions you have.

Some trials are designed for people with severe symptoms who have not responded to standard treatments, while others may focus on people with mild or moderate disease who are not yet experiencing symptoms. Your medical history and symptom profile will help determine which trials are right for you.

Baseline Assessments

Before enrolling in a clinical trial, you will typically undergo a series of baseline assessments. These tests establish a starting point so that researchers can measure how the treatment affects your condition over time. Baseline assessments may include all of the tests mentioned above, as well as quality-of-life questionnaires and physical exams.

Throughout the trial, you will have follow-up tests at regular intervals to monitor your progress and check for any side effects of the treatment. These follow-up tests are similar to the baseline assessments and help researchers determine whether the treatment is safe and effective.

In summary, qualifying for a clinical trial for aortic disease involves undergoing a thorough evaluation that includes imaging tests, functional tests, blood tests, and a detailed medical history. These assessments ensure that you are a good candidate for the trial and that the study can provide meaningful information about the treatment being tested.