Thoracic Aortic Aneurysms and Dissections

What is Thoracic Aortic Aneurysms and Dissections syndrome?

It is a rare disease affecting the aorta (the large blood vessel responsible for distributing blood from the heart around the body). Also known as TAAD, this genetic syndrome affects the uppermost part of the aorta, known as the thoracic aorta (located near the chest).

The syndrome causes a weaker, stretched aorta (aortic dilation). This in turn can lead to an aneurysm, which is a bulge in the wall of the blood vessel. This can be a life threatening condition because it can cause a tearing in the wall of the aorta (aortic dissection), which makes blood flow abnormally between the different layers of the aora. Consequently this disrupts blood flow to other crucial organs and parts of the body, including the brain. It may also cause the aorta to rupture.

Generally the syndrome presents in childhood, but may sometimes not be identified until in adulthood.

What gene changes cause Thoracic Aortic Aneurysms and Dissections?

There are 8 genes directly related with familial thoracic aneurysm, but there are many syndromes that may have aortic aneurysms as part of their features.

What are the main symptoms of Thoracic Aortic Aneurysms and Dissections?

The main symptoms of the syndrome relate to aortic aneurysms and aortic dissections.

Aortic aneurysms do not usually cause symptoms. However sometimes they may cause pain in specific parts of the body, including pain in the neck, chest, or back. This can also be accompanied by swelling in the arms, neck or head. Sometimes symptoms might include shortness of breath, chronic coughing or the coughing up of blood.

The symptoms associated by aortic dissections include severe and sudden chest or back pain. Sometimes these symptoms will include paler skin, faint pulse and a numbness in the limbs or paralysis.

Some individuals with TAAD also show features familiar with other syndromes, including Marfan or Loeys-Dietz. This might include a tall stature, stretch marks, joint hypermobility, and chest anomalies.
Other possible symptoms of TAAD, which affect some individuals, include congenital heart abnormalities, hernias, and an abnormal curving of the spine (scoliosis).

How does someone get tested for Thoracic Aortic Aneurysms and Dissections?

The initial testing for Thoracic Aortic Aneurysms and Dissections can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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