Referral Query

[Livelovelife56]

Good morning all and hope your all doing well.Can I ask I've been asked by my son's cardiologist to get a cardiac check specifically aortic root dilation. This is one of his heart condition. Has anyone else family been asked for this.

TIA

Brenda

[JulianM]

The short answer to your question is strictly no, in relation to my own family, but this is a good sign that your son's medical team is following the latest international guidelines, as published last October.

These say that aneurysms/dilation of the root and/or ascending aorta and/or arch should lead to an offer of screening with imaging of these areas for first degree genetic relatives, i.e. parents, siblings, children. If any of them are positive, this might then lead to further screening ...

It is particularly relevant when there's no genetic marker that can be checked for: if there is, then it is possible to check if that variant was inherited or has arisen spontaneously for the first time, in which case further screening wouldn't be justified.

[Livelovelife56 in reply to JulianM]

Morning JulianM, yes your right no genetic marker was found. I am grateful for her thoroughness.

[Cliff_G]

Hi Brenda,

Can I check, is the cardiologist saying that you yourself should have a root dilation check?

[Livelovelife56 in reply to Cliff_G]

Yes thats right Cliff_G my husband has the HCM gene but not aortic root and she wants me to get checked before we check my older children from my previous relationship.I wanted to thank you for bringing my attention to my boys blood pressure

Consultant has started him on Losartan.

[Cliff_G in reply to Livelovelife56]

Great, and pleased your son is getting BP treatment. Losartan can also slow down growth of the aorta.

As Julian says, it does sound like they are doing the right thing by you. Only 20% or so of aortic problems are associated with the classic connective tissue disorders (Marfan etc). Another 30% or so (I'm rusty on these numbers) is "familial" non-CTD, i.e. inherited but not Marfan etc. The rest are "sporadic" with no known (or yet proven) genesis. However, the data bank of possible genes is increasing all the time. The current NHS full gene panel is 29 or 30, but the main researchers have a list probably in excess of 100 potential candidates under investigation.

I had a 27 gene panel some years ago, nothing found, but the sudden change from poor ascending and arch tissues to a perfectly good descending and abdominal aorta means mine probably is genetic in some way, but affecting only the genes responsible for building the dodgy bits of my aorta.

Some researchers are convinced that genetics is in fact behind most aortic problems, just that we haven't found which ones yet.

Getting you scanned first is very sensible, because as we age our bodies obviously slowly decline in all aspects, and the aorta is not immune from that, and will show up well.

Good luck!

[Livelovelife56 in reply to Cliff_G]

Yes, Consultant also stated about hopefully slowing aortic growth. She is also going to start him on beta blockers but is waiting for respiratory follow up to decide which one. I have to say you guys really know your stuff.

Bless you all as this group has provided me reassurance and so much relevant information in understanding my son conditions 🙏🏾

[Cliff_G in reply to Livelovelife56]

Glad I can help anyone try and avoid what I went through.

[Alisbabas]

Hi

I was told to get my siblings and children checked due to mine. They have to go though GP then referred to hospital for a scan.

Hope this helps

Ali