genetic testing for an aortic aneurysm

Hi,
I had genetics testing done last month. I am still waiting on the results.

I had it done for the same reasons that you are suggesting. (I have two aneurysms (4.4 and 4.6).) I also was told by my cardiologist that if there was a genetic component, it could impact "when" I have surgery. No one mentioned insurance issues, but I move to Medicare in 2026 and no longer carry life insurance. If you decide to do it, the tests are expensive, so you will want to ensure your insurance covers it. My cardiologist didn't push the test aggressively on me, and she warned me that genetic testing often turns up nothing.

After I survived a complete dissestion in 2015, I did have genetic testing done through the John Ritter aortic research project at the University of Texas at Houston. It's free and I highly recommend it. I have to be honest with you, though: your concerns about life insurance are misplaced at this point.

At 4.4 cm you are close to a surgical candidate depending on your gender, body size, height, etc. I'd be a lot more concerned about surviving an aortic dissection than getting life insurance at age 60. I am age 60 right now. I fully dissected at age 50 and was incredibly lucky to have survived. It's true--I cannot get life insurance anymore but I am still maintaining the policies I had 10 years ago

The fact that you're getting inconsistent aortic diameter readings that vary by .3 cm is neither uncommon nor unusual given the variabilities in the different kinds of scans you're using. I think the very best scan you should have is a CT scan with contrast. It's important not to move during the scan at all so they can get a clear picture of what's going on.

More importantly, you need to find yourself a good surgeon and focus on when and if you become a surgical candidate and having a plan in place in a major metropolitan area with a surgical center that can handle this complex cardiac surgery. The time for genetic testing really has passed in the sense that you've got a problem right now and you need to address that problem now. Genetics are interesting, but they don't fix the problem. They are retrospective in the sense that they may be able to tell you whether or not there are markers that are indicative of a predisposition to deceptions, but they are meaningless when it comes to a dissection. I can tell you firsthand, the last thing I needed was genetic testing. I needed open-heart surgery and a Dacron aorta to replace the aorta I had that had blown out. I did get all of my children scanned after I survived and they will continue to have scans every five years to monitor for any issues.

I know that that is hard here and I don't want it to be, but I do want you to be very honest with yourself and not distract yourself with the nuance of genetic testing when what could happen to you with an aneurysm on your aorta is to die very suddenly. Find the best thoracic surgeon in your area and put them on your speed dial. Peace.

P.S. Now that your medical records show that you have an 4.4 cm aneurysm on your ascending aorta, you're never going to get either life insurance or a disability policy again. What your genetics counselor should've told you was that. That's the reality. I have applied for increases in my term policies when they were offered and the second they see it in my medical records they deny my request to increase the policy. I spent six years working in the life insurance industry before I became a lawyer, and I can assure you the life insurance companies, and the disability companies review every scrap of your medical records before they will issue you any kind of policy at age 60. That horse has left the barn…

I am a 5'10", 165# female with a 4.0 ascending aortic anuerysm. I have normal blood pressure, have never smoked and am very active. I saw a thoracic sugeon a few weeks ago, and he has referred me to Johns Hopkins for genetic testing--mainly for Marfan Syndrom. I had never been seriously ill until 2002 when I started getting all these tick-borne diseases, including Alpha-gal (can't eat any meat from any animal with hooves), Babesia,
Bell's Palsey, Erlichosis, and Lyme to name a few. In 2015, I had open-heart surgery to remove a Myxoma (calcified tumor) from inside my heart. There was no anuerysm then, SO, did surgery cause it? I forgot to ask that question. Anyway, if I don't have Marfan, doc said no operation til it's somewhere beyond a 5. However, he said I shouldn't worry, because once you have open-heart surgery, scar tissue forms around the aorta and that scar tissue will protect the aorta from disection. Anyone else heard that? I am still worried, because as folks have said here, it's like having a time-bomb inside your chest. I have prayed so much I'm sure God is sick of me, as there are so many folks in the world who are in much worse shape.😏

Thank you for your reply! The genetics counselor is not pushing the testing on me either and he did tell me it could be expensive, but they would do everything they could to get me the best price. I hope your results will bring you some answers and pathways forward.

I also had genetic testing done after they found a 5.2 cm ascending AA at 54 years old (5 years ago). I also had had a brain aneurysm and there had been several confirmed cases in my family, including my brother who has 3 brain aneurysms. In my case my cardiologist who is an aortic disease specialist is also a geneticist and he was conducting research. My individual results showed that I didn’t have any of the known markers but based on the family history he thought my family could have an unknown marker. So my family’s involvement was more to help others than myself or my immediate family members. I also have a BAV and those are known to be contributors to the appearance of aneurysms, so double whammy for me. As there were no known markers in my family, my children got echocardiograms and brain MRIs , both negative but they are young so they have to repeat every 4-5 years. My siblings also got tested and besides my brother, the rest are clear. I’m also the only one with a BAV.

Genetic testing is good if you have a known marker since it may give you an indication your family (on whichever side the marker comes from) needs to be assessed for possible aneurysms.

As @moonboy says now that the aneurysm is known, you became uninsurable, at least for life insurance. I do have long term care insurance.

I had both of my aneurysms repaired, and 5 years on I’m in very good health.

My recommendation, keep yourself healthy, exercise (sensibly, listen to the restrictions given by your surgeon and cardiologist) , treat your body well. You want your body to be in the best shape possible when and if you need surgery. Find the best thoracic surgeon you can find, and a cardiologist who is an aortic disease specialist.

Wish you the best!!!

Thank you for your reply moonboy. I have been following you on this platform and am grateful for your all of your knowledge and information regarding aneurysms. From what you have said here it seems like there is no reason not to do the genetic testing. I do not live in a metropolitan area, but I do have a vascular surgeon that I feel comfortable with. I will check into the John Ritter research project to see if that would be an option for me. Peace to you as well 🙂

Thank you for your reply @houston13! Best wishes to you on your journey through aneurysms! I have had a difficult time cutting back on my exercise routine but am doing well keeping all my numbers where they should be, this has definitely been a life changing experience.

I am 68 years old.

My interest in genetic testing is for 2 reasons. Even though I have an Edwards 27mm valved conduit, I have a small section of ascending aorta between it and my aortic arch that is at leat 4.4 and aneurysmal that has to be monitored. The root looked like it had structural integrity on various CT with contrast, Echos, cardiac MRE with contrast etc., at 4.8 cm, but it was fragile and my ascending aorta was thin and the root ruptured and aorta split during surgery for a RCA resection for a large aneurysm, complex fistula ligation and double bypass on the LAD. That brings 2 questions: 1) is the remaining part of the ascending aorta thin? 2) Do my kids and grand kids need to get genetic testing etc? As far as the 1st question, it may be moot because they may not be able to fix it b TEVAR anyway and given the complications before may make a 2nd open heart surgery a safer bet. However, that 2nd question is a big deal.

Hi, tsetet13,
Recently I received the results of my genetic testing. All “normal.” Yet the cardiothoracic surgeon and genetics counselor both emphasized that is not necessarily an all-clear sign. New genetic information continues to accrue, and at some point a genetic reason for these anomalies may come to light.
As a 70 year old female on Medicare, I have gotten conflicting estimates on what if anything Medicare might pay for the genetic testing, which was quite pricey. I felt it important to have the testing done, if only to provide a heads-up for my children & sibs that they may be at risk. But with the “normal” results, that is a moot issue at this point. (If a genetic marker had come up, my children may well have chosen to not have their own testing done, because of the very real life insurance and disability insurance issue.)
With regard to getting a correct size estimate — well, good luck! I have had quite the range over the past three years: 3.8 cm & 4.1 cm (CT without contrast),
3.5 cm (MRA with contrast), 3.7 cm (echo), and 3.8 (CT with contrast)! The CT with contrast is generally the most accurate, so that’s what we’re going with for now. Despite the relatively innocuous finding, due to family history and an underlying connective tissue disease, I continue to be followed by the aortic center and a genetics specialist.