Hi, Iam just wondering how long and how hard for a diagnosis?

Hello @lucy4, and welcome to Mayo Clinic Connect.
Wow...I'm sorry that this is becoming so difficult to find a cardiologist that will send you to an HCM specialist. Especially with your rather impressive (in a bad way) family history.
Echocardiograms are the standard protocol for detecting HCM or HOCM, but they certainly are not the only tool in the box.
There are other tests done in conjunction with the echo that help more clearly define your heart status.
One test, the cardiac MRI is very useful for clearly detecting HCM.
Lab tests, specifically Pro-BNP help detect heart failure, and a chest x-ray can show heart enlargement.
Have any of those tests been mentioned or suggested?
You state you are "not likely to get a referral to the HCM specialist nearby", but were you denied a referral or just speculating you won't get seen?
Be persistent!
You know you better than anyone else, and you can tell if things are not right.
Many times before and after I was diagnosed, my echo would change from one to another. It made me feel like I was making it up in my head!
HCM is elusive, strange, good some days, bad the next, hard to diagnose. It mimics so many other garden variety heart conditions.

Pay attention to strange symptoms. HCM has more than it's fair share!
Having a pounding, racing heart after a large meal, for instance.
Fatigue.
Short of breath on mild exertion. Like bending over to tie your shoes.
Brain fog.
The list goes on.
Stay persistent. Is it possible you can self-refer to the specialist nearby?

Hi @lucy4 , another fellow Canadian here. 61 year old male. What a frustrating journey you are on. To (kind of) answer your question of "how long/how hard" ... I had been fighting with progressively worsening symptoms for something along the lines of 15 years. All of the above - shortness of breath, fatigue, chest pain, fog, the works. It was all a mystery for years until one doctor sent me for (another) echo, who sent me to a specialty centre where they did (yet another) echo. At that point I had three doctors saying HCM and I got referred to an HCM clinic where they did (ready?) ANOTHER echo. The techs aren't allowed to tell you anything of course but they quietly muttered to me that the results were crystal clear and there was a clear and unambiguous answer on the way, and I got scheduled for a cardiac MRI, which of course took months. MRI done and the HCM specialist said "nope, not HCM," and when I asked ok, what is it, what should I do next, his response was (and I quote verbatim): "I dunno man." Fast forward approximately another 3 years (I've lost track of the exact timeline now), my family doctor sent me for an echo after hearing "something different from last time" during my annual physical. Cardiologist called me in after reading the echo and basically said "classic, textbook Obstructive HCM." He recommended Camzyos which took just a few weeks to get all worked out, and BAM! - the world changed. After 12 days on Camzyos I had zero symptoms and have had no negative side effects except a tiny increase in blood pressure, now firmly under control.

All that to say... Yeah, it can be a LONG, frustrating road of conflicting answers, and no-answers, even from those who you expect to know. After getting my hopes up again and having them dashed by "I dunno man", I sat on a bench outside the hospital and cried. Big, ugly snot-sobs. And not for the first time. I can't count the number of times over those earlier years that I said to my wife that I didn't want to chase an answer anymore - it was just easier to accept that I would continue to slowly lose all physical ability to even tie my shoes unassisted. Riding that roller coaster of hope and despair was so disheartening.

Do you have HCM? I don't know. Do you need Camzyos? I don't know. Do you need surgery? I don't know. I'm just an engineer and all that stuff - including all of the echo numbers you reported - it's WAY beyond me. But try not to lose hope. If you feel like you are getting conflicting echo results, maybe see if your family doctor will refer you to a different clinic for an echo. Don't be afraid to travel to another centre a few hours away for that if necessary - sure it's inconvenient, but in the end it might be worth it. Like @karukgirl said, be persistent. If you haven't already done so, create and maintain a diary of EVERYTHING that triggers your symptoms. I was up to about 30 pages at one point. Somewhere in all that might lie the nugget that makes a light come on for one of the doctors.

Finally, while you are recovering from bouts of chest pain or dizziness or sortness of breath, spend a bunch of time perusing the HCM forums here. It's a gold mine, and I can almost guarantee you will see your own reflection looking back at you in some of the stories you see here. Don't lose hope. Keep trying. Have a good cry now and then. Then pick yourself up and start kicking and raging at it all over again. "Do not go gentle into that good night" (Dylan Thomas).

I worked in health care for 19 years. Family history matters, I'm not sure why they wouldn't weigh their decision more heavily on that factor, although I have read that hypertrophic cardiomyology only affects about 1 in 500 people.

One thing I've learned in the last month was that the thickness of the heart muscle's walls is being measured during these tests. The Transthoracic Echo put mine at 1.4cm, but then the MRI, presumably more accurate said 1.6cm was the thickness. According to what I've read (and I'll be seeing my Cardio doc next week to confirm), is that thickness of 1cm or less is "normal". Thickness of 3cm or more is when you're starting down to go downhill badly and I'm squarely in the moderately affected category. I am NOT a doctor (IT was my contribution) and my AI pal is not always correct (seen this SO MANY times) so take all of this with a grain of salt. One thing that has been helpful is that I can download all of my test results from the various providers and find these numbers. Now if only I understood them...

@thehellyousay and @lucy4 I first read, when learning about this condition, that HCM affects 1 in about 500 people as you noted; lately I read that the latest numbers for the occurrence of HCM may be closer to 1 in 250. That's from the Hypertrophic Cardiomyopathy Association website (4HCM.org). Imagine! That's quite a lot of people! A little more awareness or some other reason? I always had echocardiograms which monitored the increasing thickness over the years until I went to Mayo for surgery. Another echocardiogram, of course, during the preliminary testing along with my first MRI. @boatsforlife shared a very helpful story, thank you. I encourage you to be a very persistent squeaky wheel (a pest) in getting the answers you need based on your tests and family history and to trust your instincts. May I suggest looking at the 4HCM.org website and completing an intake interview with them? Here is a link right to the intake information page: https://www.4hcm.org/education-and-support. The people there are experts in navigating a route to the best professional and reliable care based on individual needs at no cost to you. Wishing you success!

Thank you Everyone!
It most definately is not an easy road to get any answers....especially when you know and feel something is not right. My newest echo last week came back normal as well but said the image quality was poor and she had me on my left side for 98% of the test.....she also did not add my symptoms while doing Valsalva in the report or Valsalva at all. I'm guessing it's because with the poor quality images it was not able to calculate it properly? I will keep on it ...
Here in Canada (Ontario where iam) we can't self refer...unfortunately.

@boatsforlife I have definately had my moments of ugly cry! It's hard not to feel defeated everytime a dr looks and says normal, normal, normal or borderline but normal. I have said almost the exact same thing to my husband ...I don't think I can do this fight. It took me 7 yrs to get my crohnes diagnosis so being persistent is something I can do.

@lucy4 Hello, Lisa.
Hilde here, also from Ontario, 73. I am sorry to hear you are having such a hard time getting a diagnosis. It is hard sometimes to get the doctors to refer you to the right place.
In my case the diagnosis came so fast that I was not ready for it. I had a fainting episode when I was 66 and my nurse practitioner sent me to a number of doctors to find out the cause, among them London Health Sciences Cardiac Care Services at University Hospital in London, Ontario. They diagnosed HCM right away and wanted me to go on a beta blocker and have follow up every 6 months. Since I didn’t have any symptoms at the time I refused medication and care, having other things to do in life at the time. Over time, about 3 years later, my energy level was going down and I started to have swelling in legs and feet. Back to the n.p. who sent me to a local cardiologist with my old report. This doctor was very angry with me but sent me to the Peter Munk Cardiac Centre at University Health Network, Toronto General Hospital. I have been going there for about 3 years for detailed echocardiograms and have been on Bisoprolol since then which took care of the swelling just fine. Since February this year I have been on Camzyos and it seems to work as far as reducing the shortness of breath and a slight increase in energy.
They are the foremost centre for HCM in Canada and with your family history try to convince your doctor to refer you there. They also do genetic testing on you and your family members if they want to know if they have the condition. The doctors there are very informative and you can see all your test results by accessing the portal. You can also communicate with the doctors over the portal.
I was wondering how your father and grandfather were diagnosed or if they ever definitely were. I don’t know how long clinics have been able to diagnoseHCM or HOCM, but i think it is not all that long. I am quite sure my father had it, undiagnosed. He died in 1980.
Wishing you all the best in pursuing this. Let us know your next steps. And do try to continue doing things that are meaningful for you in life as much as possible. Having a chronic illness can eat you up and we are so much more than our condition. Much love ❤️.

@bepeacefulall Thank you for all the helpful information! Our Canadian neighbors navigate a different landscape and I'm glad you chimed in with specific suggestions for Lisa, @lucy4. Lisa, please also consider my previous suggestion to contact the Hypertrophic Cardiomyopathy Association 4hcm.org because they help people navigate their HCM worldwide. In fact, they recently announced they are now active in Portugal! It is true that HCM and HOCM went (and still is) often undiagnosed, even by cardiologists. I realize that my dad probably had an undiagnosed case as I remember his shortness of breath as he aged, died in 1999 but did tell me he had a mitral valve murmur. Grandma was not "feeling well" for a while before she died of an apparent heart attack in the late 1950's. Thank you, again, @bepeacefulall, @boatsforlife and @thehellyousay for all of your valuable inputs.

@walkinggirl
Wow! 1 in 250!
I was sure it was under diagnosed here (Australia) as some cardiologists seem unfamiliar with it. Here, the rate of diagnosis in women is only 8 in 10,000. That's a lot of people being undiagnosed and untreated!
Thanks - I am learning a lot from this group

@pamela47 Greetings to our fellow big hearted people Down Under! Many cardiologists are unfamiliar with HCM in the states, too. In the cardiology office where I am a patient, different cardiologists specialize in different aspects of heart disease, I was fortunate to be assigned to one very knowledgeable about HCM at my first visit. I do not know if more men than women have HCM, beecause it's not linked to the x or y gene, only that the chances are 50% if a parent has it. Now, what can you do to help educate people - and doctors - about HCM? The Hypertrophic Cardiomyopathy Association, office in New Jersey, has outreach in several other countries. The website is 4HCM.org. May I suggest, contacting them and informing them about the fact that ONLY 8 women in 10,000 are diagnosed in Australia? I think the people in the organization would be shocked!