Hypertrophic cardiomyopathy

[runningman]

I got diagnosed with hypertrophic cardiomyopathy back in 2012 via a gene test for the mutated gene. My sister was diagnosed first as she was having heart problems. Had my genetic test at Addenbrooks in Cambridge. Got my confirmed diagnosis on the eve of the Olympic games in London. A day I will never forget. Shocked was an understatement. I'd had various heart scans including a cardiac MRI but all the results were "inconclusive", but given I was running marathons week in, week out was always told that I had nothing to worry about. Needless to say, a negative result was a forgone conclusion. Didn't quite change my life overnight, but almost. Ran a marathon the following day and then another one the day after.

 

I was already due to see one of the UKs top HCOM specialists in London prior to the genetic test anyway. After that appointment my life changed overnight. No more marathons or ultra-marathons. No more stressing the heart. Still run 40+ mile weeks but at an easy intensity, much to her consternation. 

 

Had my daughter tested in 2014. She is also gene positive. That was another kick in the nuts. Fortunately she hasn't developed an enlarged heart yet. She will be 14 in a couple of weeks.

 

In hindsight, I am probably lucky to be alive. You often hear about super fit, experienced runners who aren't so lucky, dropping dead at the finish line. I could have been one of them.

 

Its been a very bitter pill to swallow, but you just deal with it and move. That's life.

 

@Akay17 See your GP and request a referral for a genetic test. You are entitled to one. Normal protocol is to genetically test the whole family. 

[Akay17]

On 17/12/2021 at 08:47, Trooper74 said:

Gave my sister in Ireland a ring and put the fear of god in her ... ,, She’s off to her GP on Monday .... 

I’ve already given up the statins after just 3 days due to the intense pain in my left leg ... GP warned me of the possibility of muscle pain and told me to stop if it became high level ... Unfortunately our GP’s are now no longer doing health care for patients until January as they are now a NCS rather than a NHS provider .... by government decree...

It can be complicated process, although it’s a very common condition, not many people are properly diagnosed so there’s very little research carried out on it, so lots of GPs don’t think about it when looking at symptoms. I stopped being scanned after I was told if I didn’t develop symptoms by late teens I had all clear, which I later found out was a complete lie, although they mainly appear before 20s or later in life after 40/50. When I approached my GP about it he was very reluctant to do anything and asked me to provide proof of family history which was hard with my brother lIving in Australia now, however after several visits to him he agreed to refer me. The cardiologist dept have been amazing in carrying out tests and specialists willing to keep in touch regularly. They advise gene testing is best way to diagnose but can be challenging to get NHS to agree to it, however I will continue to Persye this.. hope all works out for you and your family x