Reliable information

[Livelovelife56]

Good morning

Can anyone recommend articles or books to help me understand aortic root dilation and the possible implications, treatment or signs to be aware of in a young adult male(16 yrs old) TIA

[Hidden]

I suggest you discuss your questions with the BHF Heart Helpline nurse on 0300 330 3311, who may be able to provide a better understanding on a personal level and specifically in relation to the young person you have referenced.

[MichaelJH Heart Star]

This article is a good start:

bhf.org.uk/informationsuppo...

. As said by Hidden the BHF Helpline can give you further information.

[JulianM in reply to MichaelJH]

Sorry to say, I strongly disagree! This article starts talking about aortic aneurysms and then switches to a discussion of abdominal aortic aneurysms, which are biologically different to aortic root/ascending aortic aneurysms. Different genetics, different epidemiology and risk factors, different surgeons, different age and gender profile.

[JulianM in reply to JulianM]

It's a frustration that when I have challenged the BHF about the poor quality and inaccuracy of the information they provide on this, for example, saying that genetic testing is only relevant to people with Marfan, their response is that they don't need to revise it because their competitors don't cover it and because that part of their site gets little traffic. So much for leadership, and no wonder their material gets little traffic ... sigh.

[Livelovelife56 in reply to JulianM]

Yes I am seeing that too. If I come across anything I will share . Thank you

[JulianM in reply to Livelovelife56]

It also gets me that the NHS A-Z of conditions has entries for Marfan, and for abdominal aortic aneurysms (for which there is a national screening programme) but nothing for root/ascending aneurysms. Again, I've suggested they improve this, but no action has been taken. It's precisely when people are diagnosed with something a bit odd, and referred to specialists with waiting lists in months, that accurate and authoritative online information is, in my view, most needed. Good luck, and always interested in comparing notes.

[Livelovelife56 in reply to JulianM]

Oh yes I thought it was just me not putting in the correct terms. Information as you have said on AAA and the thing is I want to use reputable website like NHS but its nigh on impossible to find and especially relating to children.

[Cliff_G in reply to JulianM]

ADAUKI managed to get AD under the Irish A-Z, see below) but in spite of this, the UK has not seen fit to follow. Various excuses of the too-hard type.

[JulianM]

There are comprehensive medical guidelines from the American College of Cardiologists and American Heart Association on the management of aortic aneurysms which were updated last year and are publicly available at the site linked here.

My own starting point for learning about these conditions was the previous version (in 2010), taking the references as a guide to the literature and the leading centres in this very specialised field. Many of the review articles are open access.

There are similar European guidelines which were last updated in 2014 and are about to be updated again: they will undoubtedly follow the path set by the ACC/AHA ones.

acc.org/Guidelines/Hubs/Aor...

[JulianM]

There are several UK voluntary groups which have some focus on aortic issues, but none of them has yet produced the kind of information materials which I would like to see for patients and families faced with the diagnosis that you (and I) have been confronted with.

In an ideal world, I would like to see the Marfan Trust (UK) expand its remit to cover all genetically driven aortic conditions, in the exact way that its US equivalent, the Marfan Foundation, has done in recent years. The Marfan Foundation has turned itself into an umbrella for support groups for Marfan, Loeys-Dietz, vascular Ehlers-Danlos, and also for genetically driven aortic conditions beyond these syndromes, under the banner of GenTAC. Their website has the best information materials available and I do strongly recommend that you have a look at it: don't be put off by the lack of a Marfan or other diagnosis.

marfan.org/conditions/

[Livelovelife56 in reply to JulianM]

Thank you so much

[DippyDingDong in reply to JulianM]

Thank you JulianM, that was very helpful. I'm newly diagnosed ascending AA with bicuspid aortic valve and feel that my GP doesn't understand me...not that any doctor has spoken with me since my diagnosis, it's all messages via letters or secretary/ receptionist.

[Cliff_G in reply to DippyDingDong]

GPs don't see enough of these to be acquainted. Ditto Cardiologists, unless aortic specialists, would probably go by the European or American guidelines. Unfortunately, guidelines (rightly) need solid evidence, or commonly agreed practice, on which to base their content. This means there is an inevitable lag between a new discovery or knowledge and it making it into a clinical setting. (It has been said it can take 11 years to get a new discovery through to the front line). If you're not getting given a referral, you may need to specifically ask for one, to an aortic specialist centre.

[Sim22]

Try PubMed and search, you can filter your search with various terms. In medicine we use it all the time as a starting point

[Livelovelife56 in reply to Sim22]

Thank you

[Cliff_G]

There is some information relevant to aortic dissection on the HSE, Ireland's NHS, at www2.hse.ie/conditions/aort...

So far the other NHSs have failed to reciprocate.

Now, these pages are about dissection not aneurysms/dilation, but there are sections about what causes dissection, and these have a fair bit in common with thoracic aneurysms and root dilatation.

One issue with aortic problems is that they are largely symptomless, the main exception to this being when the aortic valve function is affected, such as by regurgitation, when the sufferer will get out of breath and may be unable to exercise much. Regurgitation can be heard on a stethoscope as a first indicator.

For just about everything else, some sort of scan or other tests are needed. Echo scans can look at the size and function of the valve, and the ascending aorta, but are of less use at the arch and initial descending aorta. MRI or CT scans are used to screen everything else (and to check on Echo measurements).

The traditional measure used to judge an aortic dilation is the diameter of the aorta or aortic root. The old figure used (and still used rather too simplistically) is that an operation won't be done unless the aorta reaches 5.5 cm (adults). In recent years it has become clear that diameter alone is not a good criterion, but as yet there is no agreement on what to replace it by - some centres are bringing down that figure to 5.0 or lower, and definitely in the case of Marfan or other such syndrome, the figure has dropped to 4.5 or 4.0 cm. For younger folk (as well as older), what is known as the Z-score is used, a statistical method of comparing a dilation to a "normal" sized aorta. However, none of these methods are foolproof, and much research is going in to improving prediction of when things become a real problem.

As a 16 year old, genetic tests are vital; it is far from usual to have aortic problems at that age, which raises the likelihood that there is a genetic cause in him. Marfan is the most common condition mentioned, but there are several similar ones, e.g. EDS and LDS, but in all there are around 30 genes which are known to affect the aorta. There is strong suspicion on many other genes, and even the idea that aortic issues are potentially always caused by some sort of genetic anomaly, but this science has not yet progressed enough to be clinically useful. The fact that it might be genetic does not necessarily mean it was inherited from parents, but it is a good reason to check parents, siblings, offspring andvto look back at the wider family history for clues. A specialist genetic counsellor is needed for this.

(Julian's link to) the latest AHA/ACC guideline is probably the most comprehensive and up to date guide to these issue. Large and can be difficult to read, or even to find the appropriate section, but it can be worth the effort.

To get educated about these matters is the most important thing you can do, after that you should be (and I know are) talking to a specialist aortic clinic. These things are way outside a GPs emit, or even of a non-aortic specialise Cardiologist.

Ongoing best wishes.

[Livelovelife56 in reply to Cliff_G]

Thank you Cliff_G 😊

[heart_surgery]

Are you enquiring on behalf of your child or someone else's child? Can you give more information about your question.... who it is and what condition or diagnosis they are suffereing from?

All the best TIm

[Livelovelife56 in reply to heart_surgery]

Hi yes it'd my son. So his Dad was diagnosed with HCM and we had our sin checked in April 2021 and he was diagnosed with Mild HCM. At his next follow up 6 months later was also diagnosed with Aortic Root Dilation. Initial measurement of ascending aorta 24mm and annulus measuring 19mm. In January 2023 he had MRI which gave the measurement of the aortic root at 38mm.

I'm trying to understand all the variations of the aorta, the measurements of all the different sections. But I'm currently trying to understand the rate of growth so when I see his consultant in May I have relevant information and questions to ask about future treatment and care for him.

[heart_surgery in reply to Livelovelife56]

Hello Livelovelife56, You're doing all the right things... be prepared and informed when you see the consultant, have scripted questions ready and try and take them further if possible (sometimes answers to your questions bring up yet more questions). Understanding and knowledge for you and your son helps lessen the anxiety. You sound like a wonderful partner and mother in a stressful and difficult situation for your family.

You're doing all the right things... Stay strong... all the best TIm

[Livelovelife56 in reply to heart_surgery]

Thank you Tim. It has not been easy especially as our son has additional needs (Autism & Learning disabilities) it is vital I understand his condition as he cannot explain his symptoms or if he is in pain. But by my understanding I can then explain it to him using social stories and a simplified version. So far they have worked great in him having the echo and ecg and even the MRI.

Thank you so much for the information. I really appeaciate all the feedback everyone has provided. So I have a lot of research and reading to-do. It's a good job I don't watch Love Island 😉

[JulianM]

One condition to maybe take a particular look at, and ask the team at Great Ormond Street about, is linked here. I'm mentioning it mainly because I've been in contact with an adult diagnosed with it; the ways it affects people are very varied and it goes under several names - it's on the Marfan Foundation site as Shprintzen-Goldberg Syndrome... medlineplus.gov/genetics/co...

[Livelovelife56 in reply to JulianM]

Hi JulianM thank you for the link I will definitely look at this and create a list of questions for the consultant. One thing which I will definitely be checking is that my son will be seeing an Aortopathy specialist. In fact I've contacted the team about this. I can't thank you enough for all the information and links and for your time to do this. Brenda