Familial thoracic aortic aneurysm type 6
Overview
What is aortic aneurysm, familial thoracic 6?
Familial thoracic aortic aneurysm type 6 (AAT6) is a hereditary heart condition that causes an increased risk to have an enlarged large aortic artery (aortic aneurysm) that pumps blood from the heart to the rest of the body. An aortic aneurysm place individuals with AAT6 at risk to have a life-threatening event known as an aortic dissection. People with AAT6 also may have purplish net-like patterned skin, wrinkled masses around the iris and structural heart problems.
AAT6 occurs due to mutations in the ACTA2 gene. This condition typically runs in families and is passes down from parent to child. However, people with AAT6 from the same family can present with different severity of symptoms. Treatment is based on symptoms of the condition. Early detection of AAT6 is important for increased monitoring.
References
- Milewicz, D.M., Regalado, E. (2016). GeneReviews. Heritable Thoracic Aortic Disease Overview. Retrieved February 23, 2019 from https://www.ncbi.nlm.nih.gov/books/NBK1120/
- Genetics Home Reference. (2015, January). Familial thoracic aortic aneurysm and dissection. Retrieved February 23, 2019 from https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection#
More Overview Content
Are there other names for aortic aneurysm, familial thoracic 6?
How many people have aortic aneurysm, familial thoracic 6?
What is the usual abbreviation for aortic aneurysm, familial thoracic 6?
What health problems are part of aortic aneurysm, familial thoracic?
Is aortic aneurysm, familial thoracic a cardiovascular disease?
Are there other names for aortic aneurysm, familial thoracic 6?
There are many names for familial thoracic aortic aneurysm type 6 (AAT6) including:
- AAT6
- familial thoracic aortic aneurysm type 6
- Aortic aneurysm, familial thoracic 6
- ACTA2-related thoracic aortic aneurysms and aortic dissections
- Familial thoracic aortic aneurysm with livedo reticularis and iris flocculi
- Familial thoracic aortic aneurysm and dissection
- TAAD
References
- Aortic aneurysm, familial thoracic 6 (Concept Id: C2673186) - MedGen - NCBI. (2019). Retrieved 18 November 2019, from https://www.ncbi.nlm.nih.gov/medgen/435866
How many people have aortic aneurysm, familial thoracic 6?
Familial thoracic aortic aneurysm type 6 (AAT6) is a rare condition. As of 2020, the frequency of AAT6 is unknown. Having said this, all of the familial thoracic aortic aneurysm and dissection forms combined is believed to account for at least 20 percent of thoracic aortic aneurysms and dissections.
References
- Genetics Home Reference. (2015, January). Familial thoracic aortic aneurysm and dissection. Retrieved February 23, 2019 from https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection#
- Milewicz, D.M., Regalado, E. (2016). GeneReviews. Heritable Thoracic Aortic Disease Overview. Retrieved February 23, 2019 from https://www.ncbi.nlm.nih.gov/books/NBK1120/
What is the usual abbreviation for aortic aneurysm, familial thoracic 6?
The most common abbreviation for familial thoracic aortic aneurysm type 6 is AAT6.
References
- Genetics Home Reference. (2015, January). Familial thoracic aortic aneurysm and dissection. Retrieved February 23, 2019 from https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection#
- Milewicz, D.M., Regalado, E. (2016). GeneReviews. Heritable Thoracic Aortic Disease Overview. Retrieved February 23, 2019 from https://www.ncbi.nlm.nih.gov/books/NBK1120/
What health problems are part of aortic aneurysm, familial thoracic?
The main health problem for individuals with familial thoracic aortic aneurysm type 6 (AAT6) is an enlargement of the large artery, known as the aorta, that pumps blood from your heart to the rest of your body. This enlargement is called an aortic aneurysm. Aneurysms and may lead to a rupture, also known as an aortic dissection, which can be life threatening. To discuss the personal health risks of an individual with AAT6, talk to a cardiologist familiar with AAT6. To find a cardiac focused genetic counselor who can discuss the condition overall and risks to family members, you can visit the following site: https://www.nsgc.org/page/find-a-genetic-counselor
References
- Milewicz, D.M., Regalado, E. (2016). GeneReviews. Heritable Thoracic Aortic Disease Overview. Retrieved February 23, 2019 from https://www.ncbi.nlm.nih.gov/books/NBK1120/
- Genetics Home Reference. (2015, January). Familial thoracic aortic aneurysm and dissection. Retrieved February 23, 2019 from https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection#
Is aortic aneurysm, familial thoracic a cardiovascular disease?
Familial thoracic aortic aneurysm type 6 (AAT6) is an inherited cardiovascular disease that typically affects the main artery that pumps blood from the heart to the rest of the body- the aorta.
References
- Genetics Home Reference. (2015, January). Familial thoracic aortic aneurysm and dissection. Retrieved February 23, 2019 from https://ghr.nlm.nih.gov/condition/familial-thoracic-aortic-aneurysm-and-dissection#
- Milewicz, D.M., Regalado, E. (2016). GeneReviews. Heritable Thoracic Aortic Disease Overview. Retrieved February 23, 2019 from https://www.ncbi.nlm.nih.gov/books/NBK1120/
