Screening of first degree relatives b... - British Heart Fou...

British Heart Foundation

54,710 members34,242 posts

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

Lexi72 profile image
23 Replies

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

Written by
Lexi72 profile image
Lexi72
To view profiles and participate in discussions please or .
Read more about...
23 Replies
Rosie1066 profile image
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 profile image
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 profile image
Hanibil

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

in reply toHanibil

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 profile image
Lexi72 in reply to

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

greenfingers profile image
greenfingers in reply to

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

Lexi72 profile image
Lexi72 in reply toHanibil

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 profile image
greenfingers in reply toLexi72

My husband’s also discovered the same way.

DinoCat profile image
DinoCat in reply toHanibil

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 profile image
Lexi72 in reply toDinoCat

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 profile image
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 profile image
Lexi72 in reply toEnnasti

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 profile image
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 profile image
Lexi72 in reply toDawnH81

Thank you for sharing

Robfromwales profile image
Robfromwales

I think an echo is preferred assessment

Lexi72 profile image
Lexi72 in reply toRobfromwales

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 profile image
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 profile image
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 profile image
Lexi72 in reply toCliff_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 profile image
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 profile image
Lexi72 in reply toRobfromwales

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 profile image
Cliff_G in reply toLexi72

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 profile image
Andywags

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

Not what you're looking for?

You may also like...

Bicuspid Valve - Heart palpatations

Hi, I was diagnosed with a Bicuspid valve approx 3 years ago, due to finding it continuingly more...
Sian1234 profile image

Leaking Bicuspid aortic valve

Hello, I was diagnosed with a leaking bicuspid aortic valve in December 2021. I am waiting on...

Bicuspid valve and aortic aneurysm

Hi. New to all of this. I am 45 years of age obsessed with pushing myself to the absolute limit in...
Dragon1973 profile image

Ascending Aortic Aneurysm and dilated root

My family on my maternal side have this problem and my Nan, who died at 62 had 3 sons and my mum....
Madbat9747 profile image

Bicuspid Valve and Enlarge Aorta

Hi, I would appreciate some advice on Bicuspid Valve and Enlarged Aorta. I was referred by my GP...
Lisa4 profile image

Moderation team

See all
HUModerator profile image
HUModeratorAdministrator
Luke_BHF profile image
Luke_BHFPartner
Amy-BHF profile image
Amy-BHFPartner

Content on HealthUnlocked does not replace the relationship between you and doctors or other healthcare professionals nor the advice you receive from them.

Never delay seeking advice or dialling emergency services because of something that you have read on HealthUnlocked.