Trying to understand

[Livelovelife56]

My 15 year old son Haa HCM and Aortic Root dilatation up until a couple of months ago no symptoms. He has now had two instances were he has not felt right. 1. Had fast heart rate, clammy skin and learthgy. 2. He said he felt his heart stop.

He attended A&E both times first time BP slightly raised kept him in overnight for observations. 2 time all test came back OK.

I'm trying totk understand what is happening and wondered you good people is this a possibility of symptoms starting or could he just becoming more aware of his heart and how it may be working.

He also has a learning disability and Autism so it difficult at times for a clear picture of what he is feeling.

Thank you as always

[Cliff_G]

Hi LLL, both of these instances might have been caught on a heart monitor, known as a Holter monitor, and I would be thinking along these lines as a next step. These are just a 3-pad ECG he would wear hung on a belt, often only for 24 hrs. The usual difficulty with Holter monitors is that as soon as you put one on, the heart often behaves perfectly! They are sometimes put on for 48 hrs, or 5 or 7 days, where these periods are far more likely to pick up anything going on. There's still, however, a balance to be struck between having a monitor so early that it shows nothing vs. waiting for the problem to maybe get worse, or even disappear, bearing in mind each time the monitor shows nothing it can be taken as 'evidence' that there's nothing wrong. These days many GP surgeries will have one and will send the results to Cardiology.

I'd probably check with your GP to see if it's ok to just wait until there are more episodes, then to go to a Holter at that point. One aspect is that rhythm disturbances can be completely benign and will go away, or just turn up only very occasionally. Sometimes the best action is to wait and see, provided you get that comfort nothing serious is likely to happen.

[Cliff_G]

p.s. is his aortic root dilatation being monitored, and have they told you what size it is?

[Livelovelife56 in reply to Cliff_G]

Gd morning Cliff_GYes every six months. The size of the is annulus = 19mm, Root =33mm

The consultant said they are concerned more about the dilation than his HCM.

Im still not sure what the sizes should be or when any intervention would take place. It all so new...so scary. We went about one condition HCM and came home with two 🥺

[Cliff_G]

Hi. A root of 33 mm doesn't sound too bad, though he is young. A decision whether to intervene on his aortic root is taken when the risk of something happening (e.g. dissection) is greater than the risk of the operation. This has traditionally been at a figure of 55 mm for the ascending aorta, for adults. However, modern thinking is that this is too large a figure. Firstly, elective operations are a lot safer than they used to be (provided the work is done by a high-volume aortic centre), secondly there needs to be a genetic check to see if he has any of the genes which are associated with dissection (Marfan, Loeys Dietz, Ehlers-Danlos, plus a numner of other genes not associated with these syndromes - the full list is about 30). If one of these genes is found, the intervention diameter can be reduced to 50, 45 or even 40 mm. There are also other reasons why intervention should be done earlier than 55 mm (again, all adult figures), and diameter is not the sole criterion.

Monitoring his root every 6 months is very good practice especially at his age. At that interval, I am sure that will be by echo scan. Echo is great for viewing the heart and valves, and also the ascending aorta. However, it's not able to properly see or measure the aortic arch or descending aorta, and for this a CT or MRI scan should be used. It's common to start with echoes then add in CTs/MRIs later. He must get a CT or MRI scan at some point as it's necessary to image the whole aorta - not just the root and ascending.

With good monitoring, his condition can be satisfactorily watched. My experience is that the best place to go for this is one of the major aortic centres, where they will know the full ins and outs of aortic issues - the international guidelines can be slow to catch up. I don't know where you are, but can probably tell you where is nearest to you. The HCM and aortic root together make me think he should be seen by a multi-disciplinary team at one of these centres, cardiotoracic, cardiology, and genetics, all contributing to decisions.

Yes, it's scary, but it is a whole lot better to know that there is something that may need attention, and to have a planned operation, than to not know and experience an emergency.

Best wishes

[Livelovelife56 in reply to Cliff_G]

Hi Cliff_G thank you so much, you have made things a lot clearer. He is currently at Great Ormond Street Hospital and yes he is under a different consultants for the two conditions and we saw genetic consultant too. Hope to get genetic results at next appointment. I totally agree re planned intervention as opposed to emergency.

Thank you again for putting this into a more understandable form. It really has made me feel a lot calmer. Have an amazing day and stay safe

[Cliff_G]

Hi, GOSH is a great hospital and I'm sure your son and you & your family will get great care and support there. Clearly they are already taking a multi-discipline approach. I presume they have ensured that your son's BP is under good control.

One thing I always tell people, not to concern them greatly, but I wish someone had told me - preparation for what you hope and plan will never happen is a good idea.

I was monitored for 20 years before my aorta dissected at age 62 and I had never given it proper thought, nor had any real advice as to what I should do. When I dissected, it took a while for my aorta to be suspected, as it's not an easy diagnosis. So what I say to people now is, if you know you have an aortic risk you should consider wearing a medical alert band, in your son's case with aortopathy and HCM on it (and to prove how special he is !). That way paramedics and A&E can't miss it - with me, I forgot, my wife forgot, my daughter forgot, as they were all too worried about what they thought was a heart attack. Things would have been a lot smoother had I pre-planned how to get my risk over to them. You don't think straight when your body goes into emergency mode. The other thing is, find out from GOSH what his "emergency pathway" would be. I'm not clear if GOSH do emergencies.

Best wishes again

[Livelovelife56 in reply to Cliff_G]

Hi Cliff_GWith all his other specialities that's exactly what I have done. We have a hospital passport in the car and with his older sister and school. In emergency we take him to the nearest A&E and they will do the ecg and any other tests but they also contact GOSH to get advice on his test results and any further action.

You have been such a comfort with your understanding and advice. It has been so good to get a view from someone who has been through a similar experience. Thst has been the hardest of all not knowing whst he is feeling or how to help him understand symptoms.

How are you now how are you managing with your condition? I hope you are being taken care of

[Cliff_G]

I'm doing remarkably well, thanks. I was lucky to dissect on the emergency callout shift of one of the world's best surgeons. My aorta is completely fixed, though the rest of me...🤣

If you ever need an A&E visit, remember, CT scan for a definitive answer on the aorta. Everything else is just delays.

There is an aortic aneurysms and pre-operative Facebook group. My experience was more about dissection, though I learned a few things about prevention from what I wish had happened.

It sounds like you're getting A1 standard care.