Aorta: The Next Generation

[Dorsai]

Hi everybody...it's been a while since I've posted here regularly, so allow me to summarize my story:

• Diagnosed in June 2009 with an aortic root aneurysm - 5.1cm. No symptoms, it was caught by a very attentive PA during my annual physical
• OHS in October 2009 at Emory to fix - I was lucky enough to keep my valve, I just have a Dacron graft to replace the bad bit of aorta
• Textbook smooth recovery, and I'm coming up on 14 years of no problems whatsoever. If it wasn't for the giant scar on my chest I'd never know I had surgery.

The reason I'm here today is that my son just graduated high school and will be heading off to college in the fall, and I want to make sure he's got a clean bill of health before he goes. There's a bit of family history with heart issues - most of my family is fine, but my paternal grandfather died relatively young (age 57) from heart issues. This was in 1958, so all we really know is that he had a 'bad heart'.

In 2018 we took Dominic in to the pediatric cardiologist to be looked over and everything was fine. We took him in again yesterday and he has a 'trivially' (the doctor's term) dilated ascending aorta - 3.13cm, which is ~2.1 standard deviations above normal. He also has a low resting heart rate of 48bpm, which the doctor seemed to attribute to his general state of fitness and good health. I wouldn't describe him as an athlete by any means, but he's in good shape and regularly hikes with the Boy Scouts. In fact he just completed a week-long hike at altitude in the mountains of New Mexico and had a great time, no problems whatsoever.

I really wish I knew what my aorta looked like when I was 17...but of course I don't, since I'd never been to a cardiologist before 2009 (when I was 39). In the absence of that knowledge...I'm not worried that anything is going to happen to Dominic in the short term, but I am curious - have any of you been unlucky enough to pass your heart issues down to your children? If so, how did you learn this, and what (if anything) did you do with this knowledge?

P.S. The recommendation from the doctor is that Dominic come back in a year for another echo cardiogram, and that I get DNA tested for various things to see if I am the lucky recipient of something from my grandfather that I may have passed along.

 

[pellicle]

Good Morning

quite a bunch of good questions, so I'll do what I can to answer to the best of my understandings.

In 2018 we took Dominic in to the pediatric cardiologist to be looked over and everything was fine. We took him in again yesterday and he has a 'trivially' (the doctor's term) dilated ascending aorta - 3.13cm, which is ~2.1 standard deviations above normal.

Its interesting, as I was reading I was tempted to say "could be within tolerance of natural variations in anatomy, but >2SD is beginning to push past that. I myself have a atypical aortic arch anatomy, which leads me to always consider "natural variations".

I see later that further study is recommended (which I would have suggested were it not)

I really wish I knew what my aorta looked like when I was 17...but of course I don't, since I'd never been to a cardiologist before 2009 (when I was 39). In the absence of that knowledge...I'm not worried that anything is going to happen to Dominic in the short term

in the short term I'd say now, but if "short term" means 15 years (meaning before he's 45) then possibly.

P.S. The recommendation from the doctor is that Dominic come back in a year for another echo cardiogram, and that I get DNA tested for various things to see if I am the lucky recipient of something from my grandfather that I may have passed along.

I'd fully endorse that view about monitoring but would ask "whats the point" with the DNA testing. People can posesss genes which are not expressed (phenotype vs genotype)

An organism's genotype is the set of genes that it carries. An organism's phenotype is all of its observable characteristics — which are influenced both by its genotype and by the environment.​

so its entirely possible that he has the gene but nothing comes of it. People often don't respond well to knowing of a potential problem being in their genes.

Ultimately its a bit like the old view of "it doesn't matter what you say, but what you do", so knowing what your genes say vs what they do is an often unrelated matter.

I knew I had a heart problem from (something like) 7yo, so before I properly even understood what the actual role of the heart was I was set on a path of understanding it. By 12 I could draw pictures of the proper anatomy and explain it to people. Its not unsurprising that with that background that as I learned about biology and biochemistry and DNA I expected that my condition must be congenital and that no doubt drove my decisions of what to study after school at University (30 years later that pretty much became clear when humanity started doing better studies).

Knowing all that I know now I'd say knowing about the genetics is less important (or useful) than knowing how to treat the issue (because there is no gene therapy available to correct it in the foetal stage. Instead what we should do is accept this as part of who we are and let that develop into a definition that transcends biology and develop our selves instead. I've often said here that my obstacles in life have been what led me to do more and do better.

The medical imaging tools we have now are a far cry from the simple xray and stethoscope that existed in 1974 (the time of my first OHS) and doctors no longer have to "wait to see" when they get in there. Accordingly much can be done with planning and using the vast wealth of knowledge and experience we've built to this point in time (and will continue to build).

Best Wishes

 

[carolinemc]

Hi everybody...it's been a while since I've posted here regularly, so allow me to summarize my story:

• Diagnosed in June 2009 with an aortic root aneurysm - 5.1cm. No symptoms, it was caught by a very attentive PA during my annual physical
• OHS in October 2009 at Emory to fix - I was lucky enough to keep my valve, I just have a Dacron graft to replace the bad bit of aorta
• Textbook smooth recovery, and I'm coming up on 14 years of no problems whatsoever. If it wasn't for the giant scar on my chest I'd never know I had surgery.

The reason I'm here today is that my son just graduated high school and will be heading off to college in the fall, and I want to make sure he's got a clean bill of health before he goes. There's a bit of family history with heart issues - most of my family is fine, but my paternal grandfather died relatively young (age 57) from heart issues. This was in 1958, so all we really know is that he had a 'bad heart'.

In 2018 we took Dominic in to the pediatric cardiologist to be looked over and everything was fine. We took him in again yesterday and he has a 'trivially' (the doctor's term) dilated ascending aorta - 3.13cm, which is ~2.1 standard deviations above normal. He also has a low resting heart rate of 48bpm, which the doctor seemed to attribute to his general state of fitness and good health. I wouldn't describe him as an athlete by any means, but he's in good shape and regularly hikes with the Boy Scouts. In fact he just completed a week-long hike at altitude in the mountains of New Mexico and had a great time, no problems whatsoever.

I really wish I knew what my aorta looked like when I was 17...but of course I don't, since I'd never been to a cardiologist before 2009 (when I was 39). In the absence of that knowledge...I'm not worried that anything is going to happen to Dominic in the short term, but I am curious - have any of you been unlucky enough to pass your heart issues down to your children? If so, how did you learn this, and what (if anything) did you do with this knowledge?

P.S. The recommendation from the doctor is that Dominic come back in a year for another echo cardiogram, and that I get DNA tested for various things to see if I am the lucky recipient of something from my grandfather that I may have passed along.

And do the DNA for the son and any other children you have.

 

[Survived03]

I'd fully endorse that view about monitoring but would ask "whats the point" with the DNA testing. People can posesss genes which are not expressed (phenotype vs genotype)

I would argue that today’s genetic testing can play a role in monitoring, along with other patient data. On its own, maybe not. But on its own it may help educate, motivate, and alert future generations and their health care providers to maintain a closer look. We still have too many undiagnosed dissections.

According to Dr. Elefteriades, the recent genetic data (~6:50 into presentation) collected has become more predictive of timing of dissections, which I find interesting.

https://www.aats.org/resources/2162

I will now contradict myself, slightly. Personally, I was at the 5.6cm level 20 years ago at surgery and prior to a well established genetic testing panel. Twenty years later I have now had my genes interrogated by the 37 gene panel of todays known genes associated with aneurysms. I was negative. Would I have waited longer before surgery given what I know now? Not at 5.6cm. But if closer to 5.0cm, I may have waited. I guess my point is all data taken together and a person's appetite for risk all come into play.

Full disclosure, I was involved in genetic profiling of diseases of unmet need. So I am a bit biased.

 

[ChuckM]

Hi everybody...it's been a while since I've posted here regularly, so allow me to summarize my story:

• Diagnosed in June 2009 with an aortic root aneurysm - 5.1cm. No symptoms, it was caught by a very attentive PA during my annual physical
• OHS in October 2009 at Emory to fix - I was lucky enough to keep my valve, I just have a Dacron graft to replace the bad bit of aorta
• Textbook smooth recovery, and I'm coming up on 14 years of no problems whatsoever. If it wasn't for the giant scar on my chest I'd never know I had surgery.

I lost my father at the age of 10. He'd previously had a heart attack (from what I recall being told at a young age). His second "attack" for some reason rang as an aortic "something or another". I always recalled it as being an aneurysm, but looking back he certainly wouldn't have had multiple bypasses without someone obviously seeing it, unless it happened suddenly. It was what killed him.

Regardless, I'd carried that thought throughout my life and mentioned it to my original primary care physician who noted it, but never really saw to much beyond putting me on statins for elevated cholesterol. When he retired and I moved on to another physician, one of the first things he mentioned was a calcium score test. It most likely saved my life. They found a 5+cm aortic root. I was scheduled for a root replacement along with the mechanical valve.

When talking to my oldest sister prior to my surgery, she revealed to me that she was wheeled into the OR immediately in the middle of the night following a dissection of her aorta, and had emergency surgery to repair.

My other brother and sister have had the calcium score which didn't reveal anything other than elevated levels, but luckily no aneurysm.

Something to be said about the genetics. That calcium score is a simple test that may save one's life.

 

[Croooser]

I second the opinion on the calcium scoring test. One that I had in 2002 showed early stage CAD. With very prominent family history of heart disease, I opted to increase my daily dosage of statins. 2 years ago a Cardiac Cath prior to my AVR surgery showed only blockage was 20% in LAD with other arteries clear. So, in my case, the calcium scoring test result led to a decision to increase statins that enabled me to avoid (so far) the family heart attacks that both my father and his died from.