Recommendation on When Should I have the Operation

Second and even third opinions, I believe, are important. Keep doing what you're doing.

For perspective, I am a 54 year old woman with intermittant high blood pressure of unknown origin. It isn't usually high and can go too low if I'm on BP meds. But when it spikes, it can be 160/100. Go figure. I have occasionally elevated metanephrines and 5-HIAA, which may be related. But no one has any helpful ideas on that.

I also have a 5 cm ascending aortic aneurysm. The aneurysm was found in February of 2021 and was at 4.7 cm then. My cardiovascular surgeon is with Brigham and Women's in Boston. He does not feel that we are at the surgical intervention point yet. I believe that his department goes by the old guideline of 5.5 cm. So I have annual MRI screenings now. (Ask for the wide bore machine. It is so much better if you are a larger person or at all claustrophobic.)

I have had the standard aortic aneurysm genetic screening panel, as I am on the younger end for this condition, and female, which is also uncommon. I have some NOTCH genetic variants, but none of the common connective tissue disorders that often cause aneurysms, like Ehler-Danlos, Marfan, or Loeys-Dietz. I also have some mild value regurgitation and a dilated pulmonary artery (3.4 cm, should be 2.7-2.9). Catheterized cardiac stress test revealed chronotropic incompetence and some sort of oxygen exchange abnormality. I have a positive ANA (speckled pattern with 1:1280 titer), slightly elevated C3 and total complement proteins, and some elevated cytokines.

I hadn't been able to get a rheumatologist on-board to investigate the ANA, complements, cytokines and all of my symptoms and conditions. (I'm on my 5th rheumatologist.) So I took matters into my own hands. I got medical genetic testing, 30X whole exome testing. It took a while after that to find a product that would allow me to scan the raw data file for pathogenic variants. Most of the genetic testing companies follow different guidelines as to what is pathogenic or not, and many want to hook you into monthly subscriptions to do your own genetic research and have access to their canned reports. They do not just give you a list of things YOU should be concerned about.

Turns out, my highest concern pathogenic variants are for Behçet's, a vasculitis that can lead to aortic aneurysms. It's an autoinflammatory condition that also causes some joint pain, mucous membrane and skin ulcerations, eye disease, etc. (Check, check, and check on a lot of that.) I had my new rheumatologist at BWH test for HLA-B51 antigen, the common genetic test for Behçet's even though it's not the only gene affected. I already knew it would pop hot and, of course, it did. This Wednesday, I get to find out what the rheumatologist wants to do about it. There are treatments: steroids, methotrexate, biologics, and heavier hitters commonly used for chemotherapy that I hope to avoid.

I have not sensed any urgency around my condition. Whether there should be or not, I do not know. However, the lack of urgency on surgery suits me fine for now. With ascending aortic aneurysms, EVAR isn't a possibility. It's open heart surgery currently. I do not want open heart surgery at my age and current health.

However, the FDA is close to approving the first stents for ascending aortic aneurysm.
Ascending aortic aneurysm repair is being done endovascularly in patients who would not survive open heart surgery, but it's not common practice. And the failure rate is still pretty high. However, these are the riskiest patients. In a couple years, they may be in a much better place to do an EVAR procedure on my type of aneurysm. I just have to not die until then. LOL!

It sounds like your aneurysm is abdominal? That is relatively good news. I assume they scanned your entire aorta at some point to make sure that is the extent of your condition?

Definitely do get at least one more opinion. Watch for them just rubber-stamping your current surgeon's recommendation, though. I got a second opinion at Beth Israel that was quite obviously more of a "Why are you bothering us? You have a surgeon." than a second opinion.

The best advice I can give is to learn everything you can yourself about your condition. Ask questions. Request additional testing if you think they aren't being thorough. In my case, there were so many other things going on medically that indicated rheumatology that I went the genetics route. It just seemed dumb to me to just "watch and wait" for surgery. If I have a condition that caused this aneurysm, don't we need to treat that? I don't want more aneurysms.

Good luck to you and best wishes for a full and rapid recovery.