Researchers have identified hundreds of pathogenic variants in 11 different genes that can cause aortic disease, but are still working to identify more.
Clinical genetic testing is available for these genes. Because there are still more genes to identify, a negative test result does not rule out the possibility that aortic disease was caused by a genetic variant or risk factor.
Most genetic aortic conditions are inherited in a dominant manner, meaning that the patient received one copy of an abnormal gene from one parent. In some cases, the patient is the first person in their family to have this condition, caused by a random or sporadic genetic alteration at the time of conception. This is not caused by parental actions (alcohol use for example) and is not the fault of either parent.
Consulting with a certified genetic counselor or geneticist is recommended before and after genetic testing. These specialists can help you understand the risks and benefits, as well as the possible outcomes.
How to access genetic testing and evaluation
Genetic counselors and clinical geneticists are experts in genetic testing and evaluation. A primary care doctor, cardiologist, or surgeon may not have the most current information regarding genetic aortic conditions.
To Find a Local Provider:
- You may obtain a referral from a primary care provider or other clinician.
- The American Board of Genetic Counseling and the National Society of Genetic Counselors provide national directories of experts.
- A comprehensive clinic directory is provided by The Marfan Foundation. These clinics specialize in genetic aortic conditions and are not limited to Marfan syndrome. Clinics will typically include specialists in genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints).
To Utilize Telehealth:
- The clinical laboratory Invitae offers clinical (fee-for-service) genetic testing through telehealth including virtual genetic counseling service. Invitae accepts insurance for US based customers, offers payment plans, as well as providing a patient assistance program. Depending on income-based eligibility requirements, the cost of testing may be partially discounted or entirely waived.
- Please note: Commercial direct-to-consumer “ancestry” DNA testing and research study participation are not substitutes for clinical genetic testing and counseling.
The JRF funds cutting-edge research to advance the understanding of the genetic basis of thoracic aortic disease. We rely on medical providers and clinical genetic testing laboratories to provide vital genetic evaluation services to our community. The JRF does not offer genetic testing or counseling currently. The John Ritter Foundation for Aortic Health makes no recommendations, endorsements, warranties, or representations of any kind regarding the resources provided. For assistance connecting with licensed medical providers and other useful resources, please contact us.