Understanding thoracic aortic dissection
Most people have never heard of an aortic dissection before it affects their family. People who have lost someone to aortic dissection often feel confusion over how their loved one died. In many cases people appear completely healthy before a dissection, and have no outward signs of disease. Understanding what a thoracic aortic dissection is may be helpful for people processing their loved one’s death.
Thoracic Aortic Disease is an aneurysm, dissection, or rupture of any part of the aorta in the chest. An aortic aneurysm is a balloon-like bulge in the aorta that can occur in the first part of the aorta and involve the root of the aorta or the ascending aorta, or both. Aneurysms are a serious problem because they can tear or rupture if not properly diagnosed and clinical managed. Most often aneurysms do not cause any symptoms. Imaging is the only way to identify an aneurysm.
As an aneurysm enlarges, it increases the risk for an acute aortic dissection. The aorta is made up of three layers. An aortic dissection happens when the blood tears through the inner layer of the aorta, and then starts to flow in the thick middle layer of the aorta, leading to blood flowing through the true lumen and a false lumen formed by the blood entering the wall. An aortic dissection is a medical emergency and can cause sudden death.
Even if your loved one is deceased, they may still be able to be included in research. Some research studies collect medical records and information only, and others may require a biological sample (for example blood) to join.
Post-mortem genetic testing
Post-mortem genetic testing is an option after someone has died. Even if the death was many years ago, the medical examiner or coroner may have kept a sample from the autopsy. It is also an option to bank someone’s DNA after they have died, to save for testing at a later date. Thoracic aortic dissections can be genetic or “run in families.” Genetic testing may be important for other family members who are related by blood.
The National Society of Genetic Counselors provides practical information for families about post-mortem DNA banking and genetic testing.
A primary care doctor, cardiologist or surgeon may know everything there is to know about genetic testing. Genetic counselors and geneticists (doctors who specialized in genetic disease) can provide genetic counseling and testing and are experts who can guide you through this process.
Working with a Genetic Counselor is highly recommended. 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.
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.
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.