Ascending thoracic aneurysm: What should I do and not do?

Hi GratefulEveryDay! This LOX defect is very very interesting. My brother and I both have ascending aneurysms. He just got his genetic study (no results yet), and my study happens next month. I have no cardiovascular risk factors, but do have weird vascular spasm events. I see my cardiologist in two weeks to get the aorta measured again, and all the arteries looked at. Is there a good source for info on this LOX? I am looking on the National library of medicine site at this point. Thank you for sharing this!!! Very relevant!

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.

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.

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.

I don’t have a Cleveland or Mayo Clinic near me. We do have a trauma hospital that accepts emergency surgery patients for immediate surgery if needed. What do you do when a hospital doesn’t send me home but transfers me to a trauma hospital for emergency surgery because of a torn aortic aneurysm in my abdomen.

A few years ago it wasn’t torn, measured around 3.5 cm. And I had no pain. The cardiovascular surgeon acknowledged it and told me that I will have to return to the trauma hospital for surgery but because it presently is not bleeding
( I’m on blood thinners too due to my mechanical aortic valve replacement surgery in 2012). So I get discharged with strict “instructions “ that i contact my own cardiovascular surgeon.

The surgery team concluded that I was stable enough for discharge a few hours later. I made an appointment that afternoon with my own cardiovascular doctor.

He was annoyed with me for forcing him to see me asap! He says that “all hospitals say that “ so even two cardiovascular surgeons seen it and his aid does an echocardiogram and my surgeon said “I didn’t see anything “ Why has he been monitoring it for two years and now saying he didn’t see anything?

He rushed, spoke over me, and laughed it off! As he’s running out of the exam room I asked him if it could burst and he said “yes, it could but we have ways of dealing with that.”

It’s usually quick and fatal without immediate action. I could die on the sidewalk!
He says “see you next year “. For what? If he’s saying he didn’t see it why should I go back? I need a new cardiovascular doctor. I got one but have to wait a couple of months before he can see me. So that’s where I stand. He rushed out of the exam room and disappeared. I had to make a 12 month appointment with the grouchy secretary.

Getting family members to get screened in our family has been an uphill battle. Good luck!

I agree. One out of 5 in my family got screened. After a DNA study we found I had no heredity and my sons or sisters are not at risk. Like me I was told it is “environmental”.
Wishing you the best.

I agree. One out of 5 in my family got screened. After a DNA study we found I had no heredity and my sons or sisters are not at risk. Like me I was told it is “environmental”.
Wishing you the best.

Thank You

I have good news and bad news. The good news is my snippy cardiovascular surgeon got a phone call from my pcp telling him that he had to give me information regarding my aneurysm. I had another visit and the echo showed a 1.7 cm abdominal aneurysm said it’s not bleeding. Next thing he said was “ I have been monitoring your abdominal aneurysm for 10 years and your aneurysm is still 1.7 cm.

No change except it had a small tear in it. Not even worth mentioning it but I will look at it once a year. And he was nice to me because my pcp told him to do it as it’s bothering me not knowing anything.

I had to see an ENT for coughing and constantly clearing my throat plus my voice had become hoarse and it was difficult to talk and my throat hurt.
He stuck an endoscopy down my nose and said “ your right vocal cord is paralyzed.” He immediately sent me for 2 MRI’s, 2 CTscans and a video endoscopy. It’s another trip down my nose to determine what is it that is actually causing me this problem.
Now I have to go to the hospital under mild anesthesia as he is going to do another endoscopy with a camera and microphone attached to the end.
My recent CAT scan showed that my esophagus wich runs from your throat to just above your navel. I never knew it was that long but he has to go all the way down because tests show that my esophagus was narrowed at the abdomen level. There will be an attached balloon as well.
He plans on blowing up the balloon to expand my esophagus because eventually I could choke on my food.
I said ok if I have to by my gastroenterologist. Then he said “first things first “ he said that I had a spot on my right lung so I just came back from having another CT scan and I’m waiting for the results. My pulmonologist had to be called twice. First he said he was going to have a blood draw and hung up.
My ENT called him himself doctor to doctor and he told him that we are not looking for just a blood draw “I need pictures (the CTscan)” not just a blood draw.
A day later my pulmonologist called and said he needs me to get a CTscan. I’m on blood thinners due to my mechanical aortic valve I had replaced years ago.
He wants to see me before my March 4th procedure but he is very hard to pin down as he has admiting privileges for 2 hospitals and he has 5 offices spread out in my state.
I also need dental surgery that will need stitches “as you tend to bleed a lot”

So my hospital endoscopy and my gum surgeries are on hold until I pin him down for an appointment.
I didn’t mean to tell you my life’s problems but once I got started I couldn’t stop.
So that’s it. I’m on hold!