Screening of first degree relatives bicuspid heart valve and dilated aortic root

[Lexi72]

hi I have been told by my original cardiologist when my bicuspid heart valve was originally diagnosed and more recently by my electrophysiologist that all my first degree relatives should be screened for bicuspid as the prevalence of the condition in close family members is much higher than in the general population. My brothers and sister and both my children were all screened and were all declared ok by their GPs . However having checked recently I have realised all but one were just given an ECG and examined with a stethoscope. Am wondering if they should also have had an echo? One of my grown up children is about to run a marathon so I am going to pay to have her checked out privately before to make sure she is fit to run heart wise and will ask her to ask the doctor if she also needs an echo given the family history. Just wondered if anyone in the forum with a biscuspid valve knows whether their first degree relatives had echos ? Thanks

[Rosie1066]

Hi, I was born with a bicuspid valve which I had replaced some years ago now and I also had severe aortic stenosis. Heart problems certainly were heredity in my family as my father died of Coronary Thrombosis as did his father. Great grandfather died of Heart Failure and my elder sister was born with a hole in the heart. I now also have heart failure and a dilated ascending aorta at the root. My youngest daughter has had a scan done privately and has the all clear. My other daughter isn’t interested at all and doesn’t want to know. Heart disease does certainly run in families.

[Yumz199725]

As far as I know I'm the only person in my family with bicuspid aortic valve x. I've never had genetic testing to see if any of my relatives have this condition, Im certain I inherited my condition from my grandad but he passed away 💔. And my cousins son has serious heart issues, me and my 2 brothers have a hole in the heart aswell. Sorry for rambling I definitely think your doing the right thing getting her checked out it's good to certain and it's better to be safe then sorry xx

[Hanibil]

according to two Cardiologists I have seen in the last month an ECG is far more accurate than an echo

[JessicaRed in reply to Hanibil]

I've had numerous ecgs in my 67 yrs NONE picked up my stenosis till last summer had an echo which showed the problem and valve surgery cpl months later

[Lexi72 in reply to JessicaRed]

Sorry I meant to reply to Hanibil but thank you very much for replying

[greenfingers in reply to JessicaRed]

My husband was never diagnosed with it either and he’s had numerous ECG’s.

[Lexi72 in reply to Hanibil]

Thank you that may explain why most of my close family members were given an ECG. I had always thought though that ECG looked at electrical activity while the echo looked at the structure so I was not sure how the echo could see a bicuspid valve or dilated aorta. My condition was originally picked up by a stethoscope as I had a heart murmer

[greenfingers in reply to Lexi72]

My husband’s also discovered the same way.

[DinoCat in reply to Hanibil]

I was told my my cardiologist & consultant surgeon that unless the effect of a bicuspid valve has already progressed into specific symptoms (e.g., murmur) an ECG is unlikely to detect this hereditary valve condition. Hence an echocardiogram is the 'gold standard', especially, for example, for the children of someone diagnosed with a bicuspid valve. For a sibling, of course, the condition may already have progressed, in which case an ECG or even listening with a stethoscope may detect 'red flag' symptoms

[Lexi72 in reply to DinoCat]

I am going to arrange for both my daughters to have an echo and suggest the same to my sister . Thank you and to everyone on the forum for all your help

[Ennasti]

My family, including adult daughters, have regular screening and for my daughters (in their 30s) they both had an echo and a stress test to give a baseline. My grandsons will not be tested until they each puberty.

[Lexi72 in reply to Ennasti]

Thank you if my daughter does get tested before the marathon she will also have a stress test . I am really proud she is running but want to make sure she is safe to run. I ran 4 half marathon’s before I was diagnosed and at the first someone did collapse from an undiagnosed heart condition

[DawnH81]

Good morning. My husband was diagnosed with a bicuspid valve few years back and at the time my three children and his siblings were all scanned at the hospital. They all had an echo . None of them had a bicuspid thankfully but they did pick up a leaky valve in eldest which they monitor. My husband has yearly checks and was put on bisoprolol 2.5mg.

[Lexi72 in reply to DawnH81]

Thank you for sharing

[Robfromwales]

I think an echo is preferred assessment

[Lexi72 in reply to Robfromwales]

Thank you. I managed to track down the NICE guidance from 2018 and that did recommend testing of all first degree relatives and did seem to refer to an echo. What has confused me a bit is that I have both electrical issues with ectopics for which I have just seen an electrophysiologist and will need an ablation also the valve issue for which I have seen various cardiologist’s over the last 5 years ( I am now in the valve clinic). I need the valve replaced but not yetI have been told that the electrophysiologist is a bit like an electrician and a cardiologist more like a plumber thank you for responding

[DinoCat]

I was diagnosed with a bicuspid valve in 2022 (now replaced) & was told that an echocardiogram is necessary to detect this potentially hereditary valve condition early in first degree relatives - also see my reply to Hanibil. Hence, my sister had an echocardiogram which indicated no problems. However, she had a bit of a battle with her GP initially authorising a referral to a cardiologist until she was insistent! She eventually managed to get a referral to the same cardiologist who had diagnosed my condition & he authorised an echocardiogram straight away.

[Cliff_G]

Lexi,

ECGs are wondrous things and can tell all sorts of things about the heart, but only insofar as those changes in the heart can affect the tiny electrical voltages on the surface of the chest. I have never heard of an ECG being able to detect a bicuspid valve. However, I am certain that your family should all have echo scans. These can actually see the leaflets of the valve as they move, and can also see the velocity of blood coming through the valve, which will be faster and more off-centre with bicuspid. The way I would think about it is that an ECG cannot rule out BAV, where an echo can.

Another reason for using echo is that you and your family should also have the size of the aortic root (which holds the valve) and of the ascending aorta measured. In anyone who does have a BAV, these valves push the blood flow to one side and that high-speed flow tends to hit the side of the aorta and in many cases will cause it to bulge out at that point. It's extremely important to know this, and anyone with a confirmed BAV should have this echo test to measure the aorta every few years. It's quite common to have the first part of the aorta replaced at the same time as a BAV is fixed.

HTH

[Lexi72 in reply to Cliff_G]

Thank you that is really helpful I have echos every 6 months and have had. MRIs and stress tests and all sorts of other tests to monitor the aortic root. I am borderline for the replacement valve at 4.6cm aortic root dilation but in my case as the dilation is stable the cardiologist was more concerned about the regurgitation and whether it was moderate or severe. In the discussion I have seen on the forum in the past everyone tend to focus on the dilation but often I think people have to have the valve operation . Very helpful explanation and consistent with what I was worried about

[Robfromwales]

exactly Cliff. I almost can’t believe that a medically trained person would say to do an ecg to che k on bav

[Lexi72 in reply to Robfromwales]

Thank you I did not think it was right. It may be that it was lost in communication. Because I asked my family members to check with their GP and ask to be screened. My brother did get an echo but no-one else did

[Cliff_G in reply to Lexi72]

Indeed, I wondered whether someone thought at some point that ECG was echocardiogram rather than electrocardiograph, same initials! Easy thing to mistake with all the acronyms around the heart and the aorta. Especially AAA not being ascending aortic aneurysm!

[Andywags]

I was misdiagnosed having a bicuspid valve twice following echocardiograms and they did a CT scan to rule it out last year!