hi all so a few on here will know my story, some won’t. October last year I was diagnosed with severe heart failure and cardiomyopathy at the ripe old age of 36!!
So anyway in January at my first cardiologist appointment the wonders of modern medicine had raised my ef to 50% and I was out of heart failure but still have cardiomyopathy.
I have my own beliefs as to the cause of my problems(that which can’t be named) however I do have a strong family history and my cardiologist believes I have inherited my problems either way and genetics testing was a good idea.
I received a letter in the post today and I have a video link appointment at the end of October. I’m now more scared than ever! Every man on my dads side of my family has had problems, strangely comes from his mum but so far seems women don’t suffer…..rather random I feel!
Anyway I have an 8 year old son and a 4 year old daughter, let’s say it comes back as I hold this gene, do I put my children through these tests now as well or do I just let them live their lives like I did?
My own brother died in 2008 and I was advised to get tested, I was like na mum the life iv lived if it was gonna get me it would have taking me not my brother!
My first son was born in 2015 and in 2016 i decided fine let’s get me checked so I did. An echo was performed and I was told everything was fine apart from a trivial defect. I carried on as normal.
I have not lived the healthiest choices how ever I was always super active, between a postie job and dogs 15 miles per day for me would compare to a walk up to the shops for most!
The whole of 2022 my health was in decline up until my diagnosis! I now feel stronger and fitter than ever!!
Sorry for the rant, im just a little lost and confused, even more than I was in hospital with initial diagnosis!!
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MyHF
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I was only 37 when I needed my bypass. Similar to you heart problems run in the family but I didn't realize how much until I dug further. But on both sides of the family there were serious problems.
My cardiologist also believed it is genetical and organized a genetic test for me to see if I do have those markers. I'm still awaiting my results, but I was told it was worth my sister getting the test also.
I would possibly think get yourself tested first then if it reveals generic markers ask regarding your children. It may be they need to wait until a certain age etc... Im not sure on the process. But ask the questions.
Hello there.I had genetic testing following an out of the blue diagnosis of a large aortic aneurysm aged 52, which required open heart surgery and a new aortic valve and other bits. I was subsequently diagnosed with Marfan Syndrome, and with some digging into family history, became aware of other relatives who had been affected, including a cousin who had died aged 28.
My children were 10 and 13 at the time. Due to the 1 in 2 chance of them having the gene, they were offered genetic testing also. I was unsure whether to go ahead initially being mindful of possible implications such as life insurance etc at a later date. They are both very sporty and play rugby and I knew they would have to stop if there was a positive result. They were having annual cardiac screening anyway. However, when they finally saw a specialist, the latter explained that if they didn't have the test, they would be treated as if they may be positive so would be advised to stop specific sports anyway. What decided me (and them), was knowing that if they tested positive, they could be started on preventative treatment, which I hadn't considered. That and the thought that at least we would know for sure, resulted in them being tested. Luckily, they both came back negative. Now, the thought that the uncertainty could have continued, every time they went on a rugby pitch, me being anxious in case - I am very glad we went ahead with testing. If results had come back positive, at least we would have known what we were dealing with, although if they had different results that would have been hard.
It's not an easy decision and only you and your family can decide what is right for you. Don't be rushed into a decision, ask questions and talk to relevant professionals. You can change your mind later if you initially decide for them not to be tested. The following link has some useful information
I have a similar story to yourself. I've always kept fit and healthy, yet my health suddenly took a turn for the worse with constant breathlessness throughout 2022 and finally in Oct I was diagnosed with severe heart failure. As I was only 49, the doctors all put it down to it being genetic, but I have zero family history of this. My sister even got herself tested privately and no issue there. I strongly believe it's because of you know what!I'm currently awaiting my genetic test results and they said to wait until I get the results back to see whether to get my 10 year old daughter tested, but the consultant did add that at her age, it would be highly unlikely to show anything anyway, so there's probably little point.
It's a tough call when it's your own kids for sure, it has potentially big implications for them, as well as yourself.
A rather poor explanation of genetics (if someone can correct any errors I've made, then please do...) all our chromosomes come in pairs - so we need two copies of a gene, one on each chromosome, and they come as variations, with some being more dominant than others and some are recessive - red hair is down to a recessive variation on the MCR1 gene for example- both parents must carry this recessive gene for a child to have red hair, even if they don't have red hair themselves... they can both express a dominant gene (brown hair) but carry the recessive gene for red hair.
But the set traditionally used to determine sex - XX for female, XY for male are slightly different in structure - specifically, the Y chromosome appears shorter and bent over.
So if a recessive gene (think certain conditions, like sickle cell anemia) is passed through the mother on the X chromosome, if the daughter's second X chromosome (from her father) has a dominant gene to suppress that condition, the daughter suffers no ill effect, but can pass the gene on.
However if the mother passes the recessive gene to her son via the X chromosome, the Y chromosome from the father may not be able to counteract the effect, and the son is more likely to express the effects of the condition, compared to his sister.
This is why some conditions tend to affect men rather than women.
If you've been offered genetic testing, it wouldn't hurt to go for it, and you'd get rid of the question mark hanging over yourself as to whether you might have the gene to pass on in the first place.
As far as I know the only heart related genetic testing sanctioned by the NHS is for FH (Familial Hypercholesterolemia), a genetic condition where the body struggles to remove LDL cholesterol (the "bad" sort). The bottom line is sufferers have sky high cholesterol levels and a strong family history of heart problems, for these people life style changes make only a marginal difference to their cholesterol scores.
The good news for people diagnosed with this condition is that there are now some extremely effective medication, the most notable example being Inclisiran. The BHF (who sponsor this forum) were involved in the research behind Inclisiran, and you can read more about it here,
But that's not the entire story regarding genetically influenced heart problems. There are over fifty genes (with more being discovered all the time) that seem to have an influence on heart disease. But, by and large these other genes, unlike the genes behind FH, are strongly influenced by life style choices.
This is why the dividing line between life style and genes is so blurred. In the great majority of cases it's not that our genes doom us to heart disease (atherosclerosis), it's that they make us more or less susceptible depending upon our life style choices.
Let's take one important example, a gene called APO E3. Roughly 17% of the population carry a damaging variant of this gene (and it's a reasonable bet that amongst the people on this forum that percentage will be far higher). But virtually eliminating alcohol plus red and processed meats, will mean a carrier can reduce their personal risk to that of the general population. So is this a genetic or a life style cause behind APO E3 induced heart attacks and strokes? Well, it's difficult to say, in truth it's a bit of both. It was the gene that made that individual susceptible, but it was their life style choices that tipped them over the edge.
One other thing worth commenting. Many people on this forum report their doctors telling them their heart problems are genetic. I wish they wouldn't do that. In the majority of cases it's an over worked doctor trying give a quick, one-sentence answer to the patient's question "what caused my heart attack?" They haven't run gene tests on the patient, so they don't really know, but it satisfies the patient and avoids a long, detailed conversation that they simply don't have time for!
There is genetic testing offered for other heart conditions such as some types of Cardiomyopathy and heart arrthymias such as Brugada syndrome and long QT syndrome.
The BHF's Big Beat Challenge £30m award was given to CureHeart, lead by Prof Hugh Watkins.
"CureHeart, a multinational research partnership that aims to develop transformative and potentially curative gene therapy approaches for inherited cardiomyopathies"
I had genetic testing at 37 after being diagnosed with arrhythmia. So many people in my family had suddenly died under the age of 50 of cardiac arrest. Knowledge is power! Now me and my 3 cousins all have a diagnosis, ICDs in place to prevent cardiac arrest, and we’re all being appropriately treated for our genetic heart condition, LMNA cardiomyopathy.
Medical intervention means we should all live longer and healthier lives than our parents and grandparents that passed the gene onto us. I encourage anyone with a family history of heart problems to put themselves forward for genetic testing.
thank you all so much for replying but I’m still confused!
Captain birdseye you are definitely to intelligent for me and the only part of what you said that made sense was it’s a tough call when my kids are involved!😂
Milkfairy, I think you may have been involved in a conversation I already had with some others where I also thought there was only testing for high blood pressure. Iv never had high blood pressure, even when my ef was only 19% my blood pressure was “normal”
Well I now have the appointment date, end of October and it’s a video call. Cardiomyopathy is definitely the reason behind my genetic test.
Alixia your response is definitely reassuring and I fully understand the point you make!
My kids are older than yours (early to mid 30s) so things are a lot easier. They were only teenagers when I had a CABG at age 47. But acute coronary syndrome that led to that was thought to have a genetic cause. I simply told them (and my sisters) - and gave them letters with technical details - so they could discuss with their GPs. Ultimately they can't change their genes but they can do things that might reduce their risks, like eat healthily, maintain a sensible weight, and maintain an exercise programme ... and have and monitor blood tests earlier than other patients without a suspected genetic risk. More recently kidney issues have been detected in me ... and I have had genetic tests. I again told them and, this time, gave them a letter from my consultant telling them what they needed to do. I don't think I can do much, or anything else.
There’s lots of sound advice on here MyHF but I have to echo what others have said, only you as a parent know what’s right for you and your family.
As I said to you before, I was offered (and accepted) genetic testing on the NHS during my third pregnancy when I was under the care of a cardiologist who solely looked after pregnant women.
I was also told that although my markers came back negative that didn’t exclusively rule out a genetic link because not all genetic markers are tested.
My children are the same age as your youngest and then 2 younger and are fit and well. At the moment they will be monitored with an echo every 5 years and that feels reasonable right now to me.
Let us know how your video appointment goes; sending best wishes
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