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@hsminc

The ACC/AHA held an aortic disease conference in Sept 22. A major outcome of this meeting was the recommendation that first degree relatives get screened.
Interesting that they identified the gene for you. My husband had genetic testing and an exam last July (2023). The results were negative for connective tissue disorders. His first cousin, same age, also male, had a dissection in July 2022. His aneurysm was mid level ascending - same place as my husband's. This cousin's father died from "massive internal unstoppable bleeding." No cause was ever identified but we are thinking "aneurysm." My husband's mother had giant cell arteritis and two cerebrovascular strokes - also implicated in all this
I write this history because the ACC/AHA report stated that only about 20 percent of genetic mutations have been identified.
You can download this massive report for free, which has genetic aberations identified and discussed in more detail than I can understand. Just google ACA/AHA Aortic Disease Conference Sept 2022. Downloading it is difficult because you have to do it 10 pages at a time.

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This has been he case in my family, I had an ascending aortic aneurysm (repaired) and a brain aneurysm (also repaired). My brother has two brain aneurysms (one ruptured), there have been two other confirmed cases of ruptured aneurysm deaths in my family, all on my mother's side, and several cases of "strokes" or other sudden deaths that were never atributed to aneurysms, but could have been. My children and my other siblings have been checked and all cleared.
My cardiologist's areas of focus are aneurysms and bicuspid valves and the genetics behind them. He had me checked for known genetic markers and did not find one, his conclusion is that there may be an unknown marker in my family, so my siblings and mother are all participating in a genetic study, it won't help us directly but hopefully others in the future. I am now trying to convince all my close family members (cousins) on that side to get screened.

Thank You!!!!!