Newly diagnosed with aortic aneurysm and bicuspid aortic valve

[welshwalker]

I've always had a certain amount of shortness of breath; I was never good at cross-country or sports at school and I remember being given a Ventolin inhaler on the off-chance that I had mild asthma. I also remember that it made no difference. I've been fairly active in my adult life, doing a fair bit of mountain walking, long-distance walking and cycling.

I first went to the doctor's about shortness of breath over ten years ago, but my symptoms were always too vague for the doctor to be concerned about. I felt something wasn't right but I always left the GP feeling that I'd wasted their time.

My symptoms were of shortness of breath when doing relatively minor things: climbing a short flight of stairs, picking up something heavy or jogging a hundred yards or so. The odd thing was that I am still quite capable of walking 20 miles, climbing a mountain or even running a couple of miles, and although I would be puffing a bit I don't think I'd be much worse than the average person. In hindsight mentioning this to the doctor was probably not the best idea as I suspect this put me in the 'hypochondriac' camp. I would also have occasional intercostal pains which were always dismissed as either a viral infection or stress, despite not being someone who generally worries about things day-to-day. I've also had borderline high blood pressure for many years, mostly coming in at an average of 140/90, but although I was briefly put on medication it was felt that it wasn't necessary.

I finally managed to convince my GP to refer me to a pulmonary specialist and eventually I had a series of tests to check lung function, and a CT scan. The lung function test came back normal, and the CT scan showed no problems with my lungs, which the extremely unpleasant consultant was at pains to point out, and so I left feeling that I'd wasted the time of yet another medical professional.

Fast forward 6 months, and I had a couple of occasions where my chest pains were worse than I'd had previously. Despite it not being an obvious heart attack, NHS Direct suggested I should take myself off to A&E where an ECG and blood tests showed that it wasn't a heart attack. While I was there a Junior Doctor just happened to mention in passing about my enlarged aorta, as though it was something I was aware of. Apparently when the CT scan was taken of my lungs a note was added to the scan results about my aorta being out of tolerance. The pulmonary specialist was clearly too busy looking at me with disdain to mention that!

So a couple of consultations later, about 18 months ago, I was diagnosed with a 43mm ascending Thoracic Aortic Aneurysm, although for a long time there was some discussion about whether this was sufficiently outside normal size to be concerned about, and that I might just have a larger aorta than average. Eventually the appointments with different specialists ticked around and I had my abdomen and popliteals (where an artery passes behind your knee) checked to see if there were any further aneurysms, which came back clear. About 6 weeks ago I had an Echocardiogram done on my heart, and the results arrived yesterday to say that I have "bicuspid aortic valve associated with mild to moderate aortic regurgitation". It goes on to say that LV (left ventricular?) function is good, and a 24 hour monitor "came back as normal as he was in sinus rhythm throughout", which I suppose is a good thing! I'm to have a repeat Echocardiogram done in two years, so I imagine they're not too concerned yet. I think I'll be having a CT scan of the aorta again at some point this year to see if that's grown. So it looks like it'll end up being a waiting game to see which of the two issues needs dealing with first.

I'm not sure quite whether I'm looking for answers or just getting things off my chest, but I've been fobbed off for so long that I was beginning to question my sanity at times. Although being told you have a heart condition (and a 'disease' at that!) is not the best news you could get, a diagnosis at least means I'll be monitored for the condition worsening in the future rather than having something unexpectedly going pop at an inopportune moment. As far as I'm aware I don't feel any worse than I did ten years ago, so perhaps there's hope in that. I'm 38 now so it'd be good to get a few years in before major surgery. I'm now on Amlodipine to keep the blood pressure down which might help. I'm still unsure if the intercostal chest pains were related to the heart condition, but I've not had them in a good couple of years now. I also have a mild form of Alpha-1 Antitrypsin Deficiency but as far as I know this isn't related (another prolonged story of doctors looking for one thing and finding more things wrong which I won't bore you with).

If anyone else has had a combination of Thoracic Aortic Aneurysm and Bicuspid Aortic Valve (which I understand are related) or similar symptoms I'd be very interested to hear your experiences.

Thanks for indulging my rambling. I started the day feeling pretty miserable but do feel better for it.

[Fredders]

Hi, I was diagnosed with a heart murmur at 16 and had yearly ECGs and then echocardiograms for years as it very slowly got worse. Eventually when I turned 50 my aortic valve regurgitation and enlarged descending aorta had got bad enough that they were considering surgery. Following an MRI they put it off for another year, but by then the aorta had got worse so I was off for surgery. I had a tissue valve and a Dacron wrap on my descending aorta. Unfortunately my valve started leaking and I had to have another AVR op, but this time had a mechanical valve, as between heart ops I had had a splenectomy.

I had only really had breathlessness in my late 40s and had put that down to being an unfit couch potato!

I think if they are not rushing in to surgery and as long as they are monitoring you, then there’s nothing to worry about. You may need surgery at some point, but it could be years until it gets to that position. Try not to dwell on it and get the n with your life, that’s what I did.

Wendy

[welshwalker in reply to Fredders]

Thanks for that. I think it's just the initial shock of diagnosis that gets you. Having looked more into the conditions and reading the experiences of others on the forum I'm reassured that I can safely bury my head in the sand until the doctors tell me otherwise!

[Cliff_G]

welshwalker , sorry not to have seen this post before, I have only just started searching for "aneurysm".

Yes, bicuspid valve and aortic aneurysms are often connected, latest research suggests that the slightly unusual flow patterns out of a bicuspid (compared to tricuspid) affect the cells in the wall of the aorta just above it.

I had no bicuspid valven but did have an enlarged aorta (and other unusual vasculature, which acts as a similar pointer as bicuspid to aneurysm risk) and was monitored for many years. I eventually dissected as an emergency, so have come to understand a few things about this condition.

Firstly, are you being monitored regularly? If the aneurysm is only in the ascending aorta, periodic echo scans (TTE) are likely to be useful, but I was moved to echos+ periodic CT scans once my aorta got to around 4.3 cm. Only CT or MRI can really see the while aorta accurately.

Secondly, you are relatively young and I would be thinking that you should have a genetic test. There are 37 genes currently known associated with aortic dissection, plus we know others exist, just we haven't identified them yet. Many are associated with known connective tissue disorders such as Marfans, but others not quite so obvious. The relevance is that whilst intervention to correct an aortic aneurysm is generally considered at not less than a diameter of 5.5 cm due to the balance of risks (operation vs dissection), certain genes mean that intervention ought to happen earlier, such as 5.0, 4.5 or even 4.0 cm. Myself, I dissected when my ascending was only 4.6 cm. I can point you at the medical paper giving an update on this at the end of 2019, to show your doctors if they are unfamiliar.

Thirdly, blood pressure control is highly important. The 140/90 guideline for the UK is based on the risk balance for common atherosclerotic progression of disease. An aneurysm changes this balance and a top advisor on aortic disease I know recommends 130/80 max; I would personally prefer to see 120/80 or less.

Fourthly, don't do anything very strenuous - lifting big weights/straining, weightlifting, hard-knock sports such as rugby. You do need to keep fit from a cardiovascular point of view, and shouldn't wrap yourself in cotton wool, just don't do anything way out there.

Finally, beta blockers and ARBs are thought to have some protective effect, though the evidence is limited.

p.m. me if you want any more info, my story is also over on aortichope.org under Survivor Series Blogs. Also, whilst we deal with mainly those who have actually dissected, the patient organsition Aortic Dissection Awareness UK&Ireland is a great bunch of people who know a lot about this, see my profile.

Best of luck and again aplogies for the late posting!

[welshwalker in reply to Cliff_G]

Thanks for the information. I certainly hope not to reach the dissection stage, but I'm very glad to hear you survived it. I'm being monitored on a two-yearly basis, with CT scans for my aortic aneurysm and echocardiograms for the valve, although the two scans have in the past been separated by several months which seems illogical.

Thanks to the medication my blood pressure is coming in at about 125/75 these days which is a definite improvement. I will ask the consultant about genetic tests; I certainly don't have Marfan syndrome, but it's interesting to know that there are other genetic factors involved. When I was previously diagnosed with the gene for Alpha-1 Antitrypsin Deficiency I don't know if any other screening was done.

It's been very helpful to have this forum and the BHF website to gather some information about my condition(s). I've been given precious little information so far by either of the consultants and I don't have any appointments arranged except a vague '2 years' from when I had the echo in February 2020. The CT should be at some point next year. I have had a bit more shortness of breath recently, mostly when standing up from a crouching position, which I assume is the valve misbehaving, and my GP is keen to keep an eye on things so it may be that the scans need to be brought forward. We'll see.

Again, thanks for your reply, and I'll have a look at your blog.

[Cliff_G in reply to welshwalker]

Great, sounds like you've got the traditional essentials covered there, just the genetic thing. Mind you, I had genetic testing after my AD and it was blank on the 29 gene panel at that time, so it's not a foolproof test unless it's a known gene