Thoracic aortic aneurysm and dissections

Certain genetic conditions can increase your risk for developing thoracic aortic disease. Thoracic Aortic Disease is an aneurysm, dissection, or rupture of any part of the aorta in the chest. Treatment and guidelines for living with aortic disease are available. We still have much to learn about how to prevent and treat this disease, but scientists and researchers are working hard to solve these problems.

If you have tested positive for a disease-causing variant in one of the genes associated with thoracic aortic disease, relatives at risk for inheriting the variant based on the family history should undergo genetic counseling and testing. Each person who tests positive may then identify further family members at risk, repeating the process. This is called cascade genetic testing. If someone tests negative for your family’s pathogenic variant, then they are not at increased risk for developing thoracic aortic disease, and their children do not need to be tested for the genetic variant identified in the family.


Patients choose to participate in research for different reasons. Some want to help move science forward. Some want to give back to the community and the next generation of patients that will be diagnosed. Some find participating in research provides a feeling of empowerment.

Support and resources

Know that you are not alone. Talking with others who know what you are going through may be helpful. Support groups and advocacy organizations can provide knowledge and remind you that you’re part of a community of people who are navigating these same challenges. Disease and syndrome specific resources are available.

Thoracic aortic disease genes