Genetics

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.

A family tree showing a child inheriting one copy of a gene from each 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

A primary care doctor, or even a cardiologist or surgeon may not be well informed about genetic testing. Genetic counselors and geneticists are two types of specialists who are experts in genetics.

The American Board of Genetic Counseling and the National Society of Genetic Counselors both have tools you can use to search for a provider in your area.

The Marfan Foundation publishes a clinic directory which includes institutions throughout the United States that treat Marfan syndrome and other genetic aortic conditions. These clinics all provide genetic evaluation services.

You can ask a primary care provider, cardiologist, or other clinician for a referral to a genetic counselor or geneticist in your area.

You can contact us at the John Ritter Foundation, and we can help connect you.