What is Aortic Aneurysm, Familial Thoracic syndrome?
Aortic Aneurysm, Familial Thoracic syndrome 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 tearing in the wall of the aorta (aortic dissection), which makes blood flow abnormally between the different layers of the aorta. 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 adulthood.
Also known as: Aortic Aneurysm, Thoracic, with or without Aortic Dissection.
What gene changes cause Aortic Aneurysm, Familial Thoracic syndrome?
There are 12 genes directly related to familial thoracic aneurysm which all have autosomal dominant inheritance, however, it should be considered that there are many syndromes that may have aortic aneurysms as part of their features.
What are the main symptoms of Aortic Aneurysm, Familial Thoracic syndrome?
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 with 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 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 is it diagnosed?
To find out if someone has a diagnosis of Aortic Aneurysm, Familial Thoracic syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
