Aortic root dilation question please

[Livelovelife56]

Good morning

My son had MRI in start of the year. Results are back showing his ARD is at 38mm(3.8cm).

received a letter and call from cardiology nurse to advise this is in line with his echo measurements. His last echo in October showed 33mm (3.3cm). He is back for check up in May. My question is the growth of AR appears to be quite fast. His first echo in 2021 October showed the measurement at 21mm(2.1cm)

I know it is small but he is a slim boy weighing currently 44kg ht 159.8cm.

Sorry if this seems all muddled but I'm very scared at the rate its growing do you think I should be so bworried or is this normal growth rate? Thank you for any advice.

[MichaelJH Heart Star]

Yes, that is a fastish rate of growth but the good thing is they are monitoring him regularly. One thing to note is that at 5cm you have to notify the Dvla and at between 5.5 and 6.5cm you have to stop driving or riding your motorbike. Once you get to 5cm you need to start pushing cardiology for the repair.

With the next comment please bear in mind I am not medically qualified. I really think he needs to try and gain some poundage. My cardiologist likes BMIs between 23 and 26 as it gives you more resilience in case of infection. I dropped over 15kg due to infection when I had my amputation. Speak to our GP as he can advise on appropriate supplements. Ones for the elderly, like Ensure and Complain, are probably not appropriate as he needs to gain muscle not fat! Good luck!

[JulianM in reply to MichaelJH]

On the DVLA point, I checked the UK government website the other day (January 2023) and for ordinary licenses, car and motorbike, there's no obligation to do anything until/unless it is at 6.0 cm. However, if you are told by a consultant not to drive for 3 months or more, then you do have to notify. And there are different rules for HGV and passenger vehicle licenses, where aortic dilation becomes an issue at a smaller size for fairly obvious reasons. Rules in other countries outside the UK may also be different.

[Livelovelife56 in reply to MichaelJH]

Hi MichaelH

My son is only 16 😀. He also has condition so be grateful he does not drive or ride a motorbike 🙂 Thank you for the advice though.🙏🏾

[JulianM]

You don't say how old your son is, or whether there are reasons to think he may have a connective tissue disorder such as Marfan or Loeys-Dietz, or if there is a family history of aortic problems.

At that size - which is top end of the normal range for an adult - a genetic referral to check for known high-risk variations would probably be appropriate - the threshold in the UK is actually 3.8 cm where a genetic issue is suspected for anyone diagnosed under the age of 60 - and this is something to ask the cardiologist about.

I have no family history but was diagnosed with an enlarged ascending aorta at 59. I had genetic testing done last year: I had a video conversation with a genetic counsellor and gave a blood sample via a hospital phlebotomy clinic which was then sent to a regional lab, the results came back in a few months (and were all negative ...)

There are 11 different genes which now meet standard criteria for association with aortic aneurysms and/or dissections, and are therefore thoroughly checked, and a further twenty or so which are checked less rigorously and may be implicated. Variations can be inherited or can arise spontaneously; most follow a dominant inheritance pattern which means you only need one 'faulty' version to have an issue, and also means that cheap multi-purpose genetic tests can miss them, so this does need to be done by specialists.

Hope this is helpful, and best of luck.

[Livelovelife56 in reply to JulianM]

Hello JulianM

My son is 16, no history of aortic problems on either side. He has has had aortopathy genetic panel testing done at Great Ormond Street Hospital all came back negative. Marfan or Loeys-Dietz has been ruled out he has Autism & mild Cerebral Palsy.

I am trying to understand as much as possible before his next appointment in May.

[JulianM in reply to Livelovelife56]

Thanks for the extra information, obviously you're a step ahead of where I first thought! As I am sure the team have said, negative tests on the aortopathy panel don't rule out a genetic basis for what is going on, but it's good to have ruled out the best- known conditions - which, on the whole, are likely to be worse than the ones which we still don't know about. Keep talking to the specialists: you're at one of the leading centres. If you haven't already done so, maybe have a look at PEARS surgery as an option: exstent.com has full details. On the patient experience pages, check Hayden and Isaac Grainger (16 year old twins, who do not have Marfan ...) - operated on in 2013, still doing fine (I am told) 10 years on.

[Livelovelife56 in reply to JulianM]

Thank you I will.

[Cliff_G]

All of the above, but make sure his blood pressure is properly controlled. By that I mean 120/80 or better, and now, not some time in the future. Recently published research shows the risk of aortic events start increasing above 110/75. The UK approach is usually based on the NICE guidance, which has a pathway via not treating until 135/90 and then trying a series of meds until under control, usually over a long period of time which it takes to try these. This guidance is targeted at the specific cardiovascular conditions of preventing heart attack or stroke. However, this approach is NOT suitable with aortopathy. You need to get below 120/80 quickly.

ARBs and ACE inhibitors, as well as being BP meds, also have a protective effect on the aortic tissue structure. A great number of our members with resistant BP have gained help from Spironolactone, which is unfortunately the very last stage in the NICE guidance.

When it comes to these things, the NHS doctors have to follow defined protocols, but you need to understand whether what they are following is relevant. Too often in aortopathy they are not. All aortopathy shoukd be managed by aortic specialists.

FYI the BMA published a chart of the NICE hypertension guidance, giving you an idea of the "normal" route followed. Go to bmj.com/content/367/bmj.l53... and select 'display infographic'

[Livelovelife56 in reply to Cliff_G]

Cliff_G he sees two Dr and one is a Aortopathy consultant. So I guess he is good hands 🙌

[Livelovelife56 in reply to Cliff_G]

There is so much to know and consider. I always assumed his blood pressure was ok now I will revisit this and definitely have a look at the hypertension guidance. Bless you for all the information