October 2022 I was diagnosed with cardiomyopathy and severe heart failure aged 36. I’m now 38 and medication has helped me improve and I’m living a pretty much normal life again.
I was offered genetic testing because of a strong family history and I finally got results.
On Thursday I got a call from the doctor organising this and I was told the did find something, a defect in titin gene (written TTN) in the science world.
so I definitely have heart disease because of a genetic defect. The craziest part of all is that my dad past in 2004 and my brother 2008. The hospital have stored DNA for both of them and asked my permission to test both. Obviously I obliged.
So my children have been offered screening from age 10. Next year for my son and 2029 for my daughter. I will find out in 3 weeks time wheather they find anything in dad or brothers and then I take it from there with wider family.
The world of science is crazy!!
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MyHF
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I am pleased to read that you have made an improvement and living a pretty normal life again
Science is a wonderful thing and I am sorry this has unknown till now been passed on but so glad they will be able to test your Children and hoping they have missed the gene however if not they can be monitored and like you are doing live a normal life because of treatments if needed that are available
Thank you for the update and let us know how you get on x
So glad you are feeling better. I know genetic testing is wonderful. This isn't about my heart but I do have PAF and a small hole in the side of my heart which I was born with only found in 2020 after echo and bubble echo.
I have been ill all my life I am 65 ,66 in April. Since a child in constant pain in my legs and fell a lot . My parents where told it was growing pains and I was clumsy.
1988 I woke unable to stop my limbs jerking after a couple of hours they stopped. Saw my GP he didn't know what was wrong but do some research. 2 months later ended up in hospital for 3 weeks due to chronic pain and limbs jerks multiple times a day. Written off by hospital doctors as a fake, attention seeking, mentally ill and a nurse shouted at me you only have post natal depression. My son was 8 months old and daughter 4.
So that became my life constant pain in my limbs and limb jerks no warning they just happened . Only last minute or 2. But very painful. After seeing a psychiatrist to clear me then seeing different consultants . My GP found the best neurologist in the country Professor Marsden at neurological hospital in London. Instead of an appointment he had me in for a week and did every test available. Even had telemetry and video for 24 hours but my brain waves where normal during limb jerks. Put me on tablets for symptoms but no diagnosis.
Fast forward to January 2020 . I had moved to Crosby in 2019 from the black country. Still constant pain our the years it settled into my legs and left arm. My new GP referred me to the Walton while waiting for the appointment had 4 seizures which lasted 8-10 hours each time. One a month . Saw my neurologist he didn't know what was wrong but put me on Clonazepam within 2 weeks my limbs where still after 32 years. Bliss. Had my blood taken to have my whole genome genetically tested.
Covid hit. And he didn't get the results until March 2022. 1st April 2022 finally found out I was born with the rare hereditary Hyperekplexia gene mutation SLC6A5 type 3. Which is a genetic mutation in the brain receptors. My parents both had to be carriers for it . The type I have got my parents had a 50/50 chance of having a child with it I have it my brother doesn't but because of the mutation I have means I have the condition therefore no a carrier nor is my brother , children or grandchildren. As it takes 2 carriers of SLC6A5 to pass it on. There are3 GL mutations which run in families.
If it wasn't for genetic blood testing I still wouldn't know what I was born with and lucky my neurologist had put me on the correct treatment in 2020 . It's in my DNA so no cure. My only regret is my husband didn't live to find out what I had as he died in 2004 aged 47 from cancer.
I am still waiting for mine, but like you i jumped at the chance of taking it for the wider family.
Yep science is crazy and amazing and the one thing I think about is how much further the advances will be in the next 20 years with AI and all that, and therefore should it happen to your children (and I hope not) things should be even more effective by then.
My father had Dilated Cardiomyopathy (DCM) and I was diagnosed with DCM when I was 33 (Soon to be 54). There was always a suspicion that this was inherited but at the time there were no tests. Roll on a few years and genetics testing became available and I was found to have a faulty TTN gene like you.
My daughter has been tested and I'm very pleased to say she is clear. My Sister and her family are aware though they have been told that because none of them has symtoms that they will not be tested. They live in a different health authority so I suppose priorities are different.
This fills me with confidence! I’m not going to lie, I have felt pretty down. My dad was teatotal, in the army, worked for the RAF, played football…..he lived for 10 years after diagnosis. His brother was a painter decorator, worked until around 2 months before he past. He was a smoker all his life and also drank a lot for most of his life. He also lived 10 years after diagnosis. My brother didn’t even get a diagnosis, he was actually told by cardiologists he was a hypochondriac then came home from work one day and that was him!!
There’s another person on here who is 20 years after diagnosis and I actually privately messaged them as I thought it was impossible. I’m so glad to hear that you and others have lived longer!
Iv not got an ICD as of yet. When diagnosed my EF was 19% and was told I would need one. By the time I saw a cardiologist, 4 months after diagnosis my EF was 49% and my yearly scan this year showed 48% but I’m sure 1 day I will require one to be fitted.
Hello, I also have a genetic heart condition called LMNA cardiomyopathy. My mother and aunt died before they were 50 of cardiac arrest, and my grandad died in his 30s.
When I was diagnosed, I was assigned a genetic counsellor who helped me identify other members of my family that could also carry the gene such as cousins, second cousins, aunts, uncles, nephews, nieces etc. so they could get a genetic test.
This look through my family tree and the subsequent genetic testing identified 2 cousins that also inherited the gene and they are now receiving treatment.
Luckily my brother, uncle, and other cousins did not inherit the gene, so they are all fine.
In the future, I’m hoping that gene therapy will be able to help people with genetic cardiomyopathy, and that gene screening can eradicate it altogether!
Great news that you are doing so well. Science is amazing. They surely must have suspected something genetic to have kept your father and brother's DNA so long ago.
Do you think that is the case? I was thinking they must keep for everyone? Surely it can’t just be my family? When my dad was diagnosed in 1993 he mentioned he had lost a brother but cardiology ruled out being genetic as my dad had coxsackievirus in his blood and it was put down to this. I’m confused but also blown away that they still have it and are going to try and rest it.
I have no idea if they do it for everyone. I know it's only a tiny amount but can you imagine the storage that would be needed for keeping each sample separate and uncontaminated? Maybe it's just when there were suspicions or certain illnesses. I would ask them. I'm nosy.
Hi so Iv just posted an update here on the latest from my genetics. So when I got the call I asked the question…….it turns out that Aberdeen royal infirmary have been storing dna since the 1980s. Not for everyone who passes, but for those that are young, have a condition or unexplained deaths. 1 man who was into genetics had the idea! Maybe that’s why my results only took 10 weeks where some people are waiting 9+ months? Amazing!
I thought there had to be a specific reason. It would be too huge to do everyone but what an absolutely brilliant idea. The man who suggested it was really looking into the future.
I have DCM diagnosed July 2019, ICD fitted Jan 20, I have never been offered genetic testing sadly. A local charity does free cardiac checks so 3 of my children went, thankfully nothing showed but they’re still young (27,22&14) the consultant we saw said I should have been offered genetic testing and wrote to my gp to request this. Since then I have been going round in circles, gp won’t do it unless I have a letter from my cardiologist, despite the letter from the charity’s consultant and I can’t get a response from my cardiologist he doesn’t ring back. I’m in Essex so not sure if your authority effects this.
The hospital I’m under is Aberdeen royal infirmary. Maybe this is where the difference comes in. I had to wait 10 weeks for results and some people are saying they have been told 9 months. You would think the bigger hospitals would be more advance or quicker though.
Glad your children don’t seem to have any gene defects.
hi all so a further update. I got a call from the genetic team today. So my dad passed 20 years ago this September and his dna was tested and he does also carry the TTN defect that I carry. Strangely how ever, my brother who passed from heart disease 16 years ago this year was also tested and he did NOT carry the same gene defect as me and my dad!! Kinda raises more questions than answers!
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