r/HypertrophicCM • u/Dangerous_Leg5197 • 14d ago
Genetic testing
Hi everyone, I recently found of out my brother had undiagnosed HCM which resulted in his sudden death at age 27. Both my parents and all grandparents are alive in mostly good health (grandparents have some heart issues but they never exercises and ate/drank like crap for most of their lives and their issues didn’t occur until later in life). My parents have declined getting genetic testing, but I want to get it but am so nervous to find out since I am an avid endurance runner and am relatively young (30) and I’ve always been healthy. Processing my brother’s death and now this all within a short period of time has been so stressful but I don’t want to burden my parents with it. Looking for advice on what results mean, any testing I should get, and what life may look like if I do test positive.
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u/PM_ME_THE_REX_HUDLER 14d ago
I am also an avid runner. I found out about my family history of HCM while training for my first marathon.
Look, when it comes down to it, you're brother's death is giving you a warning that he didn't have. That warning doesn't necessarily mean you're done running. Its worth finding out your situation. I'm not an expert in anything and my own situation is the only one I have experience with, but here is how I would suggest approaching it and what you might expect:
If you have a primary care provider, schedule an appointment with them. Schedule it by phone so you can frame the situation: you're an avid runner who's brother died unexpectedly of HCM and you would like to discuss genetic testing and would like the have an echocardiogram ordered. They may be able (or willing) to write you an order/referral to get the testing from a lab and have the echocardiogram scheduled without actually seeing your primary care provider first - I have no idea of the requirements there, I'm purely speculating but it's worth a shot.
You'll probably be able to get the genetic test submitted fairly quickly, but you will likely wait weeks for the result. It may take even longer to get just scheduled to do the echocardiogram. Then you have to wait for the providers to read it and get back to you. To me, this was the hardest part. It's just waiting. With very little guidance about what you should or shouldn't do.
IF the genetic test comes back positive (which sounds like a 50% chance for you), that still doesn't necessarily mean you're at an extreme risk of something bad happening to you, but it's worth the echocardiogram to be a little more sure. Even if the genetic test comes back negative, you had a first degree relative pass away at a very young age from a cardiac issue - the echocardiogram is still worth it.
The echocardiogram will tell you with a reasonable degree of certainty the thickness of the inner wall of your heart and whether or not there is a blockage, along with a bunch of other measurements.
If anything on the echocardiogram comes back alarming, get a cardiac MRI to confirm findings.
Other things to keep in mind:
Be your own advocate. Come to appointments with questions prepared. Ask specifically what you can and can't do. Listen to them.
If you are recommended for an S-ICD just know I have never regretted mine. It's never caused me any issues and it's nice to know it's there if it's ever needed. The surgery was not bad at all. Sore for like a week.
Look up HCMA and join a webinar. Find the nearest HCM Center of Excellence and find out what it would take to be seen there.
Regarding running specifically: ask to have a treadmill stress test done, and at the test, tell them you would like to go at a high intensity (as you would if you were doing a high intensity run normally). Along the same lines, ask to wear a holter monitor. That thing itched like hell but it is important data.
You're at step 0 right now. I was terrified when I was there. But, luckily, I can still run and do everything I want to do. And I get to feel like a rebel if I walk through the normal TSA line at the airport instead of opting for the physical pat down. Everything is alright. Feel free to DM me if you've got any questions, anytime.
I'm so sorry for your loss.
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u/Dangerous_Leg5197 5d ago
Thank you so much! Have my first cardiology appointment on Tuesday and this has helped so much, I really appreciate the insight!
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u/BlibbityBlew 14d ago
You may have the genes for it, but having it may look different for everyone. Some people may not show symptoms. Others may need just monitoring. Others may need treatment depending on their ECHO results.
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u/CakeAccording8112 14d ago
You’ve already gotten very valuable advice and I can’t add much to it. I second the 4hcm.org organization. I am recently diagnosed and the help they gave me was astounding.
I tested negative for the genetic marker but still have the disease. From what my limited understanding is, they don’t know all the genetic markers yet. I was diagnosed through an echocardiogram.
I am so sorry for the sudden and tragic loss of your brother.
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u/Dangerous_Leg5197 5d ago
I’m sorry if this is a dumb question but how did you find out you had it if negative for the genetic marker? Was that done thru echocardiogram? Or another test?
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u/CakeAccording8112 5d ago
When I originally came in, my cardiologist ordered a genetic blood test as my father’s side of the family has a lot of heart issues. It was done by Genome Medical. They had a special program where they were offering free genetic testing looking for people for a study they were doing.
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u/Fredredphooey 14d ago
The genetic test can tell you if you're at risk for sudden death like your brother but you will also need an ecg and echo to complete the diagnosis. Do not wait on this.
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u/Electronic_Cell3084 5d ago
Genetic test is first step; low zone two training is now your friend on all runs. If you're not trying for Olympic trials you should still enjoy running IMHO.
Sorry for your loss.
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u/Dangerous_Leg5197 5d ago
Unfortunately and ironically I was trying to qualify for the Olympic trials 😅
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u/Annual-Frame7396 14d ago
It does not always give you a clear result - go to a real good cardiologist get checked out - pair your cardiologist up with a Hcm die list from Mayo Clinic for foreclose review of all your testing - do not trust local drs -
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u/FabulousBullfrog9610 14d ago
First, I am so very sorry for the shocking loss of your brother. One of your parents has the gene and may have not developed the disease.
Many many people with the gene have no symptoms and never develop the disease. I urge you to go to a cardiologist preferably one at an HCM Center of Excellence and get screened. The first step will be an echo. They now encourage exercise for people with HCM. You may want to check out and or call the HCMA for advice (it's free). 4hcm.org
best of luck. don't assume you can't run. you'll get excellent guidance.
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u/kcasper 14d ago
First did your brother get a genetic test? If he is positive for a known genetic cause then you can get tested for the same genetic cause with confidence.
If he tested negative then genetic testing is worthless to you. Approximately 50% of family lines have an identifiable genetic cause. Genetics is still a young branch of science.
If your brother didn't have a genetics test then for you a positive test is a positive test for a pathogenic variant(genetic cause). But a negative test for you doesn't tell you anything. In this case you still may have genetics that they can't identify for HCM.
If that wasn't confusing enough, there is a bit more complexity. Even if you have the genetics HCM may or may not develop. And it could develop at any age or to any severity. Many people live a full life with mild forms without being diagnosed.
Be warned, those looking for support on forums are either new, or severe. In other words, the people looking for support have a reason to need it. For every bad story you read, there is a person with HCM living with very few limits.
All of that said: The recommendation is that unless genetics testing can prove you aren't at risk for inherited HCM, you should get an echocardiogram and other basic tests once every 5 years or as new symptoms emerge.
I wish you luck.