Care Provided By Dr. Canniffe

Aortopathy means any disease of the aorta.

Aortopathy means any disease of the aorta. The aorta is the main artery of the body. It supplies oxygenated blood to the circulatory system and passes from the heart, running down the body and providing blood flow to the head and neck as well as many vital organs.

There are different types of aortopathy disease. It can be an enlargement (aneurysm) or stretching (dilatation) of the aorta. Occasionally the aortic blood vessel can tear (dissection) in the absence of aortic enlargement.

Aortic involvement can be part of a collection of physical signs and symptoms, which is known as a syndrome. People with Connective tissue disorders, such as Marfans Syndrome, Ehlers Danlos Syndrome or Loeys-Dietz Syndrome have an increased risk of a dilated aorta. People with Turners Syndrome or with a Bicuspid aortic valve also have an increased chance of their aorta dilating.

Anybody who has a diagnosis of a syndrome associated with aortopathy should undergo regular surveillance for changes in their aorta.

Those with a family history of aortic tears (dissection) or rupture at a young age, should also be advised about undertaking screening.

At the Congenital Heart Clinic, we provide a service for screening family members, routine medical surveillance and follow up for those with a diagnosis and performing cardiothoracic intervention if needed.

Diagnosing Aortopathy

A dilated aorta is frequently diagnosed whilst a patient is being tested for something else or as a result of cardiac screening following an event in a family member.

Diagnosis of a specific cause for aortopathy can be challenging because although most aortopathies are genetic, not all the responsible genes have yet been identified.

Diagnosis is usually made with specialist cardiac imaging:

  • Echocardiogram: This is the most commonly used test to diagnose and monitor aortopathy. During an echocardiogram, sound waves are used to produce a video image of the heart. It allows your doctor to see your aortic blood vessel, heart’s chambers and heart valves.
  • Magnetic resonance imaging (MRI): An MRI is a technique that uses a magnetic field and radio waves to create 3-D images of your heart, aorta and other organs and tissues within your body. Patients with a diagnosis of aortopathy are advised to have full aortic MRI scans at routine intervals. This allows for a more detailed assessment of your entire aorta, as well as your heart anatomy. It can also assess your heart’s function in more detail. This test is often used in conjunction with echo testing to optimise medical surveillance and aid decision making about complex cases. For more information on this test, visit the Blackrock Clinic website.
  • Cardiac CT: A cardiac CT is a scan of the aorta, heart and its blood vessels (coronary arteries) using a CT scanner. A CT scanner is shaped like a giant polo mint/ring doughnut, not to be confused with the MRI scanner which is more tunnel like. A CT scanner uses x-rays (radiation) to produce the scan, providing very detailed images. These images can give detailed information on blood vessel anatomy and detect early signs of coronary or aortic disease, even before any symptoms develop. For more information on this test, visit the Blackrock Clinic website.

Aortopathy Services

  • Family Screening

    We advise that all first-degree relatives (parents and siblings) of a person who has thoracic aortic aneurysm and dissection (TAAD) at a young age should undergo aortic screening.

  • Medical Surveillance

    Many patients with aortopathy require regular surveillance. This usually involves interval imaging with a cardiac echo and MRI or CT scan.

    Good blood pressure control, and good blood pressure response to exercise is a vital part of management.  Many people will need cardiac medications to optimise their blood pressure and help reduce the risk of aortic complications.

    At the Congenital Heart Centre, we will take time to ensure you understand your diagnosis, the timing of surveillance and any lifestyle advice (e.g. exercise restrictions) that may be relevant to your diagnosis.

  • Cardiac Intervention

    If you are found to have an aorta that has a significant stretch (dilatation), then we will discuss the option of cardiothoracic surgery with you. This type of elective surgery is advised in order to reduce the risk of the blood vessel suddenly tearing or rupturing.

    This surgery usually involves replacing the segment of stretched aortic blood vessel. Occasionally the aortic heart valve will also need to be replaced.

    The need for this type of surgery would be discussed with each individual on a case by case basis.

    Examples of Aortic Syndromes that we see at our clinic include: Familial Thoracic Aortic Aneurysm and Dissection (TAAD), Marfan Syndrome, Loeys-Dietz Syndrome, Ehlers-Danlos Syndrome, Turner Syndrome, Biscuspid Aortic Valve.

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