I have a dilated thoracic aorta measuring 5cm. My consultant has advised that intervention would probably be required in a couple of years when it is estimated that my aorta will measure 5.5cm.
She did however express concern that I have a dilation of 5cm aged 59 and has referred me to the Gene clinic to test for any genetic deficiency. If a genetic deficiency is identified then the intervention point is apparently reduced from the standard 5.5cm.
Does anyone have any experience of genetic testing for this condition and if so, what is the intervention point?
Thank you in advance.
Written by
Tonypredarmy
To view profiles and participate in discussions please or .
I believe they're looking for Marfan's and/or Ehlers Danlos. I was tested because I have some other markers of Marfan's (MVP, pectus excavatum, arched palate). They also did an MRI of my aorta all the way down to my pelvis. But I don't know much more than that as I was negative (and my aorta was normal).
My girls were young then and started calling me a Mini-Marfan.
I recently had elective surgery for dilated ascending thoracic aorta. As with any medical condition advice can vary a little . You are at the monitoring stage and it really depends on how fast or slowly it grows. Another MRI in 6 months or a year will help determine that.
Either way if you are currently fit great keep it that way and if not consider getting fit. As if and when you do have surgery recovery will be lot easier.
I was diagnosed with a slightly smaller ascending aortic aneurysm (4.5 cm/4.6 cm when found, now apparently stable at 4.8 cm) six years ago, when aged 59, as a volunteer on a sports cardiology study.
Genetic testing is definitely appropriate: I've been through it. You may get an online or phone interview with a genetic counsellor, sign consent forms, then give a blood sample and it is sent to a regional lab, usually for sequencing of about 40 genes on the aortopathy panel. The process takes a few months, so don't hold your breath!
The chances are that all of these markers will come back negative, as they did for me. That doesn't rule out a genetic cause, but the way I look at it, it does rule out at least 11 serious conditions including Marfan (FBN1), vascular Ehlers-Danlos (COL3A1), the various Loeys-Dietz syndromes, and a couple of vascular smooth muscle cell conditions (ACTA2, MYH11) all of which are more carefully and thoroughly sequenced than the other markers they look at.
So the conditions that remain are likely to be somewhat lower risk. But it is essential to be prepared for any outcome ...
Of the 'high risk' markers, the one most likely to turn up is FBN1, of which there are more than 1,000 known variants, because it is a big gene coding for a large protein (fibrillin 1) which has a structural role but also is involved in the TGF-beta signalling system (involved in aortic wall repair) that also gives rise to the Loeys-Dietz syndromes. Some FBN1 variants give rise to Marfan syndrome, others have more limited effects which may or may not include aortic aneurysms, and some are of unknown significance.
The big question is: how have you been imaged, and are you with a specialist in aortic disease? If the answer to the first one includes cardiac CT and/or MRI, plus an echo to check for bicuspid valve disease, then fine ... if the answer to the second is, not exactly, then it may be time to get referred to a regional centre with an aortic multidisciplinary team and have a discussion with an experienced surgeon to explore your options. Having major surgery for a condition that is not symptomatic is a huge challenge, but doing it at a time of your choosing rather than in emergency massively improves the outcomes.
Good morning JulianM Glad to hear your keeping well.
I hope you don't mind I'm always looking for advice. My son is being transitioned to adult care services as he has now turned 18. It was really hard trying to work out which would be the best hospital for his continuing care. His consultant recommended Barts as this was the sister hospital to Great Ormond Street and she advised they have excellent services for both Cardiomyopathy & Aortopathy. I bowed to her advice and experience and he has an appointment booked for April next year(just had a check up in November advised all good no cause for concern) Last week got a call from cardiac nurse about his appointment and was advised he will not be seen in the Aortopathy clinic because his diliation is stable and in line with his growth. Cardiomyopathy clinic will monitor it however and refer him if needed.
Sorry for the long post but I'm so scared now that I've made the wrong choice of hospital and will his diliation be monitored safely. His last echo showed Mild aortic root dilatation (max 38 mm at SoV level on MRI, Jan 2023) i know in the great scheme of things this is not a large diliation but my main concern is the continuous small growth since he was diagnosed 4 years ago.
I'm not even sure why I'm posting this but wondered if I'm being mum and worrying necessarily thanks for any thoughts
You're very welcome, no need to be sorry for anything! Over the last few years, I've met and seen (at conferences) quite a number of the aortic team from Bart's, plus a number of adult patients who have had excellent treatment there, so there's no question it's one of the leading centres in the UK. If the consultants' view is that their main concern is to look after your son's cardiomyopathy, I think it is completely reasonable to accept that. If he is getting cardiac scans (MRI and/or echo) annually, they will have all the information that an aortopathy specialist will need to advise them if his aorta goes out of line - and they will be able to spot that. 3.8 cm at the root is (just) inside the normal range for adult aortic size, so if the growth slows down/stops now, he may be OK on that score. As I recall, you've been down the genetic testing path and there's nothing exceptionally scary there. I think you are doing a great job of being a supportive mum!
Thank you for the very kind comment: I've had a lot of help along the way from other patients and family members of patients that I've met, and met some very committed health professionals and researchers too. We're all a long way from complete understanding of it all!
I was 55 and my Aorta was found to be 6.6 and was therefore to have surgery.The consultant said it was genetic although I did not have any genetic tests done. However the consultant said I should inform my blood relatives so they could get themselves checked out.
An ultrasound revealed a 3cm aortic aneurism (I'm going for a 2nd ultrasound this week) with advice that "I should an eye on it", though they never said who would keep an eye on it, they didn't seem unduly worried.
If that's in your abdomen, it would count as a mild dilation, it's nowhere near the size that would need any action. Probably just an annual ultrasound at this stage, and look at managing your blood pressure and lipids; if you were a smoker, it would be time to get help to give that up.
Thank you so much for such an informative reply, you've given me piece of mind.
Yes, I have had CT/MRI and Echo. My last echo I paid for myself as I should have had an annual check, but after 16 months of waiting for the NHS I decided to go private. I fear I may have to do the same with the genes test.
Genetic tests are available privately but not all tests are the same: cheap general health screens are not going to pick up some of the more subtle genetic variations that need to be assessed to rule out high-risk aortic conditions. I would strongly recommend pushing for an NHS referral, which any cardiologist should be able to make for you, as you would definitely meet their criteria for doing it: there is in fact an area of discretion where they are able to refer some people outside the narrow criteria too. Also, I would expect a private genetics consultation with an aortic specialist to cost between £600 and £1000 which I'm sure you could find better uses for.
I advocated to have mine repaired after my reading of things like American Cardiology Guidelines ( can’t remember the right term for now). Uk guidelines are intervention at 5.5 cm if no other issues. I had a BAV so had mine done at 5.2 cm . Obviously , as I am sure you know, take optimal medical therapy based on advice and keep Blood pressure monitored
The latest and most detailed guidelines for aortic surgery, updated this year (2024), are from the EACTS/STS - the professional bodies for cardio-thoracic surgeons across Europe and North America. There is a link here: eacts.org/clinical-practice...
Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.
Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.
tricuspid regurgitation 
Surgeons - At The Edge Of Life
Ascending aortic aneurysm diagnosis
Dilated sinus of Valsalva
Dilated aortic root at the level of sinuses??
