Genetic evaluation and testing

If a family member has 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 counselling 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 you test negative for your family’s pathogenic variant, then you are not at increased risk for developing thoracic aortic disease, and your children do not need to be tested for the genetic variant identified in the family.

Ask your family member to share a copy of their genetic testing report with you. This will contain information a genetic counselor or geneticist will need.

Support and resources

Supporting a family member or being a caregiver of someone affected with a genetic aortic disease can be challenging. 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.