Q&A about inherited heart conditions with the British Heart Foundation - ANSWERS BACK

[LucilleMumsnet]

This week we're running a Q&A about inherited heart conditions with the British Heart Foundation. The latest campaign from the British Heart Foundation (BHF) focuses on raising awareness of inherited heart conditions and the research the BHF is funding in this area.

The BHF estimates that around half a million people in the UK could be at unusually high risk of developing heart disease or dying suddenly at a young age. Inherited heart conditions can affect one or several members of a family. If either of your parents have a faulty gene, there is a 50/50 chance you could pass it on to each of your children.

The BHF is funding research into a whole range of inherited heart conditions, to better understand how to treat and prevent them, as well as developing genetic tests to improve diagnosis. They're asking for any concerns or questions you have about living with an inherited heart condition at any stage of parenting, whether you have one and are considering having children or are currently pregnant, or if your child has an inherited heart condition.

The experts answering in the Q&A will be:

Kelley Hart, heart patient (pictured)- Kelley has Long QT syndrome, an inherited heart condition which can cause an abnormal, rapid heart rhythm and can lead to sudden death. Long QT affects around 30,000 people in the UK. She found out her baby had inherited her heart condition the day he was born.

Chris Denning, BHF-funded researcher - Professor Denning is trying to find out more about Long QT syndrome. He uses cells taken from patients’ skin to create new heart cells that could aid our understanding of the condition and test new treatments.

Andrew Staniforth, clinical cardiologist - Dr Andrew Staniforth is a clinical cardiologist working at Nottingham University Hospitals NHS Trust. He treats adults with heart rhythm abnormalities and has been supporting Professor Denning with his research for the last five years.

Post your questions before 10am on Monday 16th June and we'll post up the experts' answers the following Monday 23rd June.

@TequilaMockinBird

Hi, I was diagnosed 3 years ago with Wolff Parkinson White, which I believe is usually inherited. However, neither of my parents had/have this condition - can it skip a generation? And is it worth getting my 16 year old daughter tested for it, even though she has no symptoms?

TIA

Andrew Staniforth: Wolff Parkinson White (WPW) is only very rarely hereditary. If your doctor felt it important to test your daughter, a 12-lead ECG would be sufficient. More generally, any patient with WPW and symptoms (palpitations or blackout) should see an electrophysiology cardiologist. The best management of asymptomatic WPW is unclear. After careful discussion of risk/benefits I would offer invasive electrophysiological assessment of an asymptomatic pathway if a patient wanted it.

Amy Thompson (BHF Senior Cardiac Nurse): Inherited heart conditions do not usually skip generations, although Wolff Parkinson White (WPW) is thought to be rarely inherited (in less than 1% of cases). As you are concerned I suggest you speak to your specialist about the risk to your daughter.

@NK346f2849X127d8bca260

I have a mitral valve prolapse, ok at last check-up.

My mother had valve replacement 5 years ago because she was born with a bicuspid aortic valve.

My 10 year old daughter has recently been diagnosed with 3 leaking heart valves, the Pulmonary, Tricuspid and Aortic ( on the commissure between right and left coronary cusp) all the leakages are mild and she is to be followed up with another ECHO in 2 years.

Will these leakages get more severe or stay the same?

Is it possible to inherit these defects?

Our 13 year old had Kawaskai disease and has cardiac follow up,his valves are all normal.

We also have another child, should he be checked?

AS: OK, so this is difficult to answer because I don't have access to the records or investigations of the conditions affecting your family members. You are describing a number of different and unrelated conditions here. Mitral valve prolapse (MVP) can cause valves to leak in a small proportion of patients; the condition generally progresses slowly and is monitored with echocardiography.

Some conditions that pre-dispose to MVP can run in families. Bicuspid aortic valve is one of the commonest forms of congenital heart disease – probably affects about 1% of the population. It can lead to premature narrowing of the aortic valve. Once again, its progress is slow and typically starts to cause patients problems in their 50 or 60s.

Kawasaki disease is a condition that specifically affects children. As an adult cardiologist I have only limited experience here. It's an inflammatory rather than a hereditary condition. The main complication is aneurysm formation (swelling / ballooning) of the heart arteries. Valve inflammation can rarely occur. It sounds like your cardiologist is doing the right checks on both your 10 and 13 year old. I think your own cardiologist is best placed to advise whether your other child should have any checks.

@weebarra

DS2 (now 3) had a coarctation of the aorta (repaired as an emergency at ten days old) and has a biscuspid valve and aortic stenosis. There is no history of heart disease in the family but when DH went for a work medical they asked if he did endurance sports as his heart muscle was enlarged. Would it be worth asking for a cardiology referral in view of DS2's condition?

AS: Bicuspid aortic valve is one of the commonest forms of congenital heart disease – probably affects about 1% of the population. It can occur spontaneously/sporadically but I believe that it can rarely run in families also. An association with aortic syndromes (including coarctation) is rarely described. From your description, I presume your husband had an ECG that showed left ventricular hypertrophy? A cardiology review would not be unreasonable.

AT: There are a number of reasons why your husband's heart could be enlarged – and it doesn't necessarily mean he has a heart condition. If he hasn't been advised to get it checked out further, then I suggest he chats to his GP as he may need further tests. Your son has congenital heart disease – which usually occurs because the heart doesn't develop properly in the womb. I'm not sure the two are linked, but suggest your husband gets checked out anyway.

@Bollard

My mother died of a heart attack in her early 60s, as did her mother and many relatives in her maternal line. Her father died of a heart attack in his 40s. Her brother had a non-fatal heart attack in his 50s.

I'm in my 40s and in good health but I worry about meeting the same fate as these relatives. Actually, I don't so much worry as assume that I have at most 20 years left. Can I do anything beyond follow the lifestyle recommendations?

AS: There is a strong history of coronary heart disease in your family. Lifestyle recommendations are extremely important (healthy diet, regular moderate intensity aerobic exercise and not smoking). Whilst there are clearly genetic factors – these are currently poorly understood and there are not specific genetic tests to do. You should have your cholesterol checked. Raised cholesterol can run in families (familial hypercholesterolaemia – FH), requires specific drug treatment and a gene can be identified in some families. Any cardiac sounding chest pain (aching pressure discomfort across the chest provoked by exercise) should always be brought to medical attention.

AT: Although coronary heart disease can run in families, there are lots of lifestyle changes you can make to reduce your risk. It is a good idea to find out what your blood pressure and cholesterol levels are – and if you haven't already had a health check call your GP practice to find out more about getting one. You can find out more about the NHS health checks here.

@LadySybilLikesCake

Hi.

My mother has dilated cardiomyopathy. Her sister (my aunt) died of a ruptured aortic aneurysm, my uncle (her brother) is living with an aortic aneurysm and he's had a couple of major MI's (I think he now has a pacemaker). My mother has a weakness in one of the ventricles and she's had a mild MI. She currently has a pacemaker. My older brother was treated for a ventricular septal defect as a baby.

I've been told that I need cardiac screening by my mother but she hasn't said what (CXR/ECG etc). I had an echocargiogram a couple of years ago which was requested by my GP, but nothing else as my GP didn't know what I needed and my mother's cardiologist hadn't sent her anything. My mother seems to think that my son also needs screening but I don't know if this is correct. My mother gets confused and she doesn't always remember what the doctors have said. Is there any way I can find out what sort of screening I need and whether my son also needs this?

Thank you

AS: You are describing a number of quite different and unrelated conditions affecting separate members of your family. Thinking about your Mother, it all boils down to what the exact cause of her cardiomyopathy is. If it's due to her heart attack (MI) then it's not hereditary. If it's unexplained dilated cardiomyopathy – it might be; although there are plenty of non-hereditary causes also. Your normal echo from a few years ago is reassuring. A way forward might be for your Mother to ask for copies of correspondence from her cardiologist – you can then see what has been recommended.

AT: I presume that screening was suggested because your mum has dilated cardiomyopathy – which can be inherited. If your mum has a faulty gene that has caused her to develop the condition, there is a 50:50 chance she has passed it down to you. Although, there are other causes of dilated cardiomyopathy so it is hard to say for sure.

I suggest you chat to your GP about a referral to a specialist clinic for inherited heart conditions, where you can be fully assessed. Your son is only at risk if you too have the condition, or the faulty gene which can cause the condition. It may be worth trying to find out a bit more information from your mum about her condition. If she has any letters from her specialist or copies of medical information these will be very useful.

@shouldnthavesaid

I've had palpitations for years and at one stage was being investigated for serious causes. Have had quite a lot of normal ECGs, one that was a three minute trace, and a 24 hour monitor that showed up a few PACs and PVCs.

I don't suffer with either half as much as I used to a couple of years ago, however I am always confused by the triggers, as the biggest trigger for me is anything that increases my heart rate such as being highly emotional, sexual activity, standing after sitting.. Everything I read online suggests that PVCs/PACs triggered by exercise (increased heart rate, I guess?) is a sign of something more serious going on.

I have also had, once, a run of what felt like continual PVCs which lasted about three beats and then stopped suddenly? I've since read online that could be a sign of VT. I've mentioned this to a couple of GPs neither of who seemed concerned. I've always been especially worried about long qt as I take anti depressants (cipralex) that carry a warning for it.

I'm terrible for looking up "Dr Google" and have at times gotten very anxious over these palpitations. Any advice or reassurance would be appreciated, thanks :)

AS: My approach to palpitations is as follows. First check the normal resting 12-lead ECG. You can get a QT measurement from a clean resting trace with no ectopics. Then you need an electrical recording of the heart during the patient's typical symptoms. Atrial ectopics (APBs) I reassure and try to ignore. If there are ventricular ectopics (PVC) I perform an echocardiogram. If the ECG and echo are normal then the PVCs are not worrying; beta-blockers can be given for symptom relief (if required). Finally I take a history for family arrhythmia syndromes. Any patient taking drugs known to prolong the QT interval needs an ECG performed on maintenance drug treatment – the QTc should ideally be kept to less than 500msec. If you are taking a drug known to prolong the QT interval – you should avoid combining with other drugs also known to do so (a full list is available on www.crediblemeds.org).

AT: You are experiencing ectopic beats – which for most people do not indicate an underlying heart condition. The heart's natural pacemaker – the sinoatrial node – is responsible for generating the electrical impulses that travel through the heart and make it beat. However, cells elsewhere in the heart are also capable of this and, if they get a little excited, will trigger an extra beat (ectopic) when it isn't needed.

For some people, activities that put pressure on the heart – such as exercise – may trigger ectopic beats, but there are lots of other risk factors and it can be difficult to narrow down the cause. The risk factors for ectopic beats tend to vary from person to person. If you are concerned and feel they are a nuisance, I suggest you go back to see your GP.

@MadameJosephine

My 18 year old son was hospitalised 2 years ago following a panic attack and was found to have a long QT interval on ECG. He was referred to a paediatric cardiologist who repeated the ECG and found no problem. He also had a normal echo at that appointment. Does this mean the long QT was a one off or could it be related to panic attacks (he has an anxiety disorder)

My daughter and I have recently been diagnosed with Classical ehlers danlos syndrome and are awaiting appointments to screen for mitral valve prolapse. I think my son probably has EDS too but as he was not at the initial appointment with me he has been referred to genetics for diagnosis. Is there a link between EDS/mitral valve issues and long QT?

AS: If your son has seen a paediatric cardiologist and they feel the QT interval is normal – then it probably is. The automated ECG calculation of the QT interval is highly dependent on the quality of the ECG recording – and even in good quality traces the machine can have difficulty deciding where the end of the T-wave. EDS and mitral valve disease can be linked. There is no link with LQTS.

@mrsbucketxx

im reallly worried for my children, my husbands father died in his thirties. My father had a heart attack in his 40's and my brother also died aged 34.

how do i get tested for any faulty genes and for my children. so i can protect them in future any advice will be gratefully received?

AS: This all depends what their exact causes of death were. See answer (5) above with regards to premature coronary heart disease. A first step might be to discuss with your GP whether he / she feels there are any common links between what happened to your Father and Brother. Did they have a post-mortem? Did your Father have a definite diagnosis of heart attack? Was your Brother a case of SADS (sudden adult death syndrome) – unexplained and presumed cardiac sudden death in a young patient (typically under the age of 40)?

AT: I suggest you ask your GP or practice nurse about having a health check in the first instance. They will assess your risk factors for cardiovascular disease, and discuss the relevance of your family history.

There are many different types of heart disease and not all are inherited, although some do appear to run in families. They are thought to be caused by a number of contributing factors, including lifestyle. Genetics are likely to play a part, with several very subtle gene variations working together to cause the disease. It is extremely complex and we simply don’t understand enough about it, hence there is no genetic testing available for many of these conditions. (Whereas, when we talk about inherited heart conditions we are referring to a handful of specific conditions that we know are caused by a single faulty gene.)

You can find out more about the NHS health checks here.

@Gowaygoway

My Mum has Hypertrophic Cardiomyopathy. She's 74 and has palpitations, breathlessness, occasional irregular heart rhythms. My brother and I both had ultrasound scans and were told by our GPs we didn't have the condition based on the sonographer's report, although we haven't seen cardiologists.

Do you think we should see a cardiologist to confirm this or is there no need?

AS: If your Mother has a definite, 100%, cast-iron clinical diagnosis of hypertrophic cardiomyopathy (HCM) then she should have genetic testing. The result of testing will not affect her management – but in unequivocal cases of HCM it's possible to identify a gene in around 70% of patients. When you find a gene, this then makes cascade screening in the rest of the family really easy – there's a definitive YES/NO answer. If you can't identify a gene within a family, then you are committed to on-going ECG, echocardiography (ultrasound) or MRI screening within first-degree relatives every 3-5 years. HCM doesn't usually present before adolescence. Some forms can develop later in life so, whilst your normal echo result is reassuring, it’s not conclusive

AT: Hypertrophic cardiomyopathy is inherited in the majority of cases and I suggest you speak to your GP about a referral to a specialist clinic for inherited heart conditions, where you can be fully assessed. The clinic can assess your own risk, and also help to identify other family members who may be at risk.

Although you may have had a clear echo, which is great news, both you and your brother are likely to need regular screening as the condition can develop later in life. The clinic will also be able to discuss the possibility of genetic testing for your family.

@indyswoofer

My mum has suffered with AF since her late forties and my aunt (mums sister) also has it. My 30 year old brother has just found out that he has the same condition, apparently this is unusual for a fit and healthy young person. My mums father died of a heart attack in his late forties. Should I and mine and my brothers children be screened? My brothers consultant says that this is not a hereditary condition but it seems far to coincidental?? Would appreciate someone else's thoughts.

AS: Atrial Fibrillation (AF) is a disorganised rhythm affecting the upper chambers of the heart. It can cause blood clots and stroke; it does not typically cause heart attacks. It is very common; 2% of the population and about 30% of those over 80-years. It's not usually familial, although very rarely it can be (there are no genetic tests). It's usually secondary to underlying structural heart disease (blood pressure, valve disease, heart failure) or alcohol consumption. Rarely it can be caused by an overactive thyroid gland. It can occur spontaneously in normal hearts (so called "lone" AF). It's more common in elite athletes. The most important thing with AF is to have your stroke risk calculated – some patients need anticoagulation (warfarin). You don't need screening – but you can do your own pulse check. Feel your pulse for 30-seconds – if the metre and volume is regular, you're not in AF.

AT: Most cases of AF are not thought to be familial, however, when several family members have the same condition it certainly makes you question your genes. If you are worried in any way about your heart health I suggest you chat it over with your GP.

@Ruhrpott

I have HOCM and an icd. What are your thoughts on taking antibiotics before dental treatment? I insist in having them and so far the dentist has agreed even though the nice guidelines say they are not needed.

AS: I tend to follow NICE guidelines. I myself have mild pulmonary stenosis – I don't take antibiotic prophylaxis for dental work.

AT: Antibiotics have been used prophylactically to reduce the risk of endocarditis for over 50 years. Yet when NICE carried out a thorough review of the evidence they found no consistent association between dental procedures and the development of endocarditis, and no proof that antibiotics are clinically effective. Antibiotics carry their own risks, such as the development of unwanted side-effects and even anaphylactic shock (which can be fatal), which is why the guidelines changed.

@heronsfly

I would like to second Ruhrpott's question and also ask about the connection between severe dental infections and heart disease, I had a heart attack followed by a bypass 5 years ago and the fact that I have suffered from a large amount of dental abscess over the years was commented on a few times while I was hospitalised.

AS: I am not aware of an association between coronary heart disease and dental health.

@iloverhubarbcrumble

I was born with patent ductus, coarctation of the aorta and bicuspid aortic valve, so all physical defects rather than rhythm issues. Several ops, now in early 50s, LV inefficiency (improving again since 2nd aortic valve replacement).

My interest in this thread is whether my physical congenital defects are genetic or one off bad luck (there is some story about my mother being ill when she was six weeks pregnant with me but all abit vague).

My daughter checked in utero, all good, she is fit and healthy. She has recently wondered whether she may have increased risk of having a child with heart defects. I have no idea. Is this likely or not? Everyone else in my family is fit and healthy, not history of heart problems.

Thanks for any insight

AS: Usually the type of structural changes you describe are sporadic. Rarely they can be hereditary. If your daughter is OK I would not expect her to be at a high risk of having a child with heart defects. All mothers in the UK are offered foetal scanning to look for common structural heart disease in-utero.

@Barbie1

Hello

I don't really know if I'm entitled to even ask as I'm not sure my condition is heredity ...but I'll be cheeky and ask anyway.

During my first pregnancy I suffered severe palputations which caused me to black out a few times.

After countless test and the wearing of the heart monitor for 24 hours it was discovered I was suffering from ASD.

Due to pregnant issues my ob/ gyne advised not to take the recommended medication. Instead I had continuous monitoring.

I was due to have an operation to repair the hole once I had finished breast feeding but I feel pregnant again almost immediately so the operation was put on hold.

The second pregnant was worse with regards to palputations but again I went down the monitoring route as opposed to medical.

Now for my question (sorry this is turning into an essay)

I'm currently pregnant with my third. I'm having about 6-10 eposides a day of palputations and light heads. They last about 2-4 mins a time.

As both my previous children had a low birth weight and were emcs my doctor is worried that I could be putting this pregnancy at even higher risk by taking any medication.

I really don't know what to do

Situation not being helped by living abroad and the doctors having very, very limited English...plus we have a huge relocation coming up in the next few months and a summer spent looking after my dm who has had a recently learnt her cancer has returned.

My stress levels are through the roof!

Any advice would be great.

AS: You have obviously been under the care of a cardiologist for your ASD. If you are having on-going symptoms or have questions about your medication/treatment plan then there needs to be a discussion between you, your cardiologist and your obstetrician.

AT: The best person to speak to about your treatment is your cardiologist, who will likely involve your obstetrician. Many of the medicines we use to treat heart conditions, and their symptoms, have not been thoroughly tested on pregnant women – so we are reluctant to prescribe them.Your doctor will be able to support you to make informed choices and agree a treatment plan going forward.

@raydown

Blood tests for fertility reasons showed that I have high lipoprotein. The doctor said this would be genetic and asked if there was a family history of heart disease. Should I be worried about this? I have a healthy BMI, don't smoke. My cholesterol is raised at 5.7 despite having a good diet and exercising.

AT: Usually people with the inherited condition familial hypercholesterolaemia (FH for short) have a much higher total cholesterol than 5.7mmol/l. However, if you have a high LDL (low-density lipoprotein), which is usually, referred to as the 'bad' type of cholesterol this can be significant. I suggest you make an appointment with your GP to discuss your cholesterol results in more detail. If they suspect FH they can refer you to a specialist clinic for inherited conditions for further assessment and possibly genetic testing.

@KaFayOLay

My father was found to have atrial fibrillation after suffering a dvt. His doctor believes he has had this since being a young man and has more than likely had a heart attack along the way. The fact that he is supremely fit and still trains to a high level has more than likely masked any symptoms he might have had. He is now on warfarin.

His mother was also on warfarin for the same condition.

Should I and my children be checked out for this?

AT: Atrial fibrillation is the most common abnormal heart rhythm and affects roughly 1 in 100 people over the age of 55. As we get older our risk of developing AF increases with age, and although it can be linked to other conditions – such as coronary heart disease – for many people the cause remains unknown.

Sometimes heart conditions such as AF can appear to run in families. They are thought to be caused by a number of contributing factors, although genetics likely do play a part, with several very subtle gene variations working together to cause the disease. It is extremely complex and we simply don’t understand enough about it, hence there is no genetic testing available for many of these conditions. (Whereas, when we talk about inherited heart conditions we are referring to a handful of specific conditions that we know are caused by a single faulty gene.)

AF can sometimes be picked up by feeling your pulse – if it is irregular or you are concerned about your heart health in any way have a chat with your GP.

@RubyrooUK

My husband was born with sub valvular aortic stenosis. Basically he has a bit of extra muscle and it causes a little bit of his blood flow to "splash back" as I understand it. He is in his late thirties. He is currently ok (ie requires checks annually but no treatment) but they tell him that it will deteriorate with age. What can be done when it does? Different doctors have told us different things.

Also - can it be hereditary? One child was checked for it in the womb but the hospital refused to check our second child as they said it could only be passed through the mother. Any views?

Thank you.

AS: It sounds like he is being well monitored. If this progresses, he could have surgery. Whether this would involve just cutting out the ledge of tissue or actual valve replacement depends on the anatomical findings at surgery. My understanding was there was little evidence to suggest this is a genetic disorder.

@WiganandSalfordLocalEditor

My Mum had a fall and when she got to the operating room they discovered Atrial Fibrillation and hsd to cancel the operation on her arm.

She is quite severe and has no quality of life at moment while She is waiting for a pace maker. They think she has had AF a long while. Her Mum had a heart condition too.

Do I or my dd need to be checked at a later age?

AT: Atrial fibrillation is the most common abnormal heart rhythm and affects roughly 1 in 100 people over the age of 55. As we get older our risk of developing AF increases with age, and although it can be linked to other conditions – such as coronary heart disease – for many people the cause remains unknown. Sometimes heart conditions such as AF can appear to run in families. They are thought to be caused by a number of contributing factors, although genetics likely do play a part, with several very subtle gene variations working together to cause the disease. It is extremely complex and we simply don't understand enough about it, hence there is no genetic testing available for many of these conditions.

Checking your pulse is a simple way to check for AF. If your pulse is irregular or you are concerned about your heart health in any way have a chat with your GP.

@Auntimatter

Of heart problems babies can be born with, what percentage are inherited (ie with the clear genetic link you describe in your article) and what percentage just random/probably just random?

NHS care is very good for the structural stuff (though under the current review); is it so organised for the inherited/rhythm problems you describe?

CD: My understanding is that it varies from condition to condition. For example, for Long QT Syndrome the underlying genetic cause is only completely identified in around 20% of cases, which means we need to learn a lot more about the genetics underlying the condition. This is because there are potentially lots of genes or interactions between genes that can cause the clinical symptoms of Long QT Syndrome.

In contrast, for other conditions, such as Duchenne muscular dystrophy (DMD), there is only one causative gene. This lies on the X-Chromosome. Boys have an X and a Y chromosome, whereas girls have two X chromosomes. This means DMD is much more likely to affect boys because they only have one X chromosome, whereas girls have 2 and this gives them more of a 'fail-safe' mechanism.

In the case of DMD answering your question is easier: About 70% of boys inherit DMD but 30% develop it spontaneously. This is an unusually high spontaneous level and it is because the DMD gene is extremely large and is prone to developing mutations. The differing size and structure of each gene is part of the reason that spontaneous levels differ from condition to condition.

Kelley Hart: When I was diagnosed with Long QT, I was scared, but also I don't think it had sunk in as I was so young. After I was diagnosed, I was told I could no longer do anything that involved too much adrenaline, I loved swimming, but I had to be careful not to swim in water that was too cold. At 10 years old, having all these restrictions suddenly in place, when before you could run around with no worries, is difficult, but you are also at an age where it just becomes the norm. I was able to grow up with a fairly normal childhood and I am hopeful my son will as well.

In my experience the care I have received from the Brompton hospital has been amazing; they are the best in my opinion. I have found that while local doctors are knowledgeable, they often don't have the specialist knowledge about my condition.

@Enuffsaid

I have hypertrophic cardiomyopathy and my 14 year old son has been routinely tested for this condition. I have symptoms ie, arrythmias and have an ICD in place. My condition shows up on an ecg and an echo. The gene has not been identified.

At my son's last appt, he underwent an exercise test, which revealed he only reached 70 pc maximal predicted workload. However, he is currently not showing signs of HCM on an ecg and echo. My question is it possible for my son to have HCM but not display the structural changes which would show up on echo/ecg even though I have an increase in heart muscle myself. I have heard there are cases whereby an individual can display a normal sized heart but still have HCM and therefore have a risk of sudden cardiac death. Would this type of HCM run in families thereby it's not possible for him to suffer from this type?

Also, can there be any other reason why a child could have a low VO2 during exercise testing that is not connected to a cardiac issue?

Thank you

AS: HCM is an hereditary condition. As a general rule, since your abnormalities manifest themselves with an abnormal ECG and echo, then if your son were affected you would hope his ECG / echo would be a useful screening tool. Because no gene has been identified, then he will need to continue with on-going ECG, echo or MRI (maybe when older – they're quite claustrophobic) screening.

There are cases where individuals can have completely normal tests and present with sudden death – but they are extremely rare. I am not an expert on VO2 cardio-pulmonary exercise testing – a number of heart and lung conditions can cause VO2 to be reduced – including exercise technique and effort. The significance of the VO2 result is best discussed with the doctor who requested it.

All the answers have now been posted. If you would like to know more you can get in touch with BHF via the helpline on 0300 330 3311 or at [email protected].