So scared, please answer!

[GirlGhost]

Wow, where to start. Recently my husband has gone through a battery of tests. Most of these tests were a part of routine yearly exams and others were as a precautionary measure due to family history, such as his colonoscopy. Anyway, he's 44 years old. All tests, blood, chest x-rays, various stress tests, EKG's, MRI's, Pulmonary Function, etc came back completely normal!!

The last doctor he saw was the pulmonologist (last week) which he saw due to complaints of shortness of breath. She went through a ton of questions with him and really nothing made her believe there was anything wrong or that anything should be causing it. We were almost leaning towards him just being out of shape as the reason. While he's not fat, 190lbs at 6 feet tall, he isn't very active when it comes to exercising.

Anyway, she then asked if he had ever had an echo cardiogram done in the past and what other tests and so he told her. He did happen to have one done in 2007. Luckily for us all these tests were done within the same network of hospitals and doctors so she was able to pull every single one of them up and read through them. Even the sleep study he had years ago (which he has a VERY MILD case of sleep apnea). Even she said and agreed everything was clear and good. Even the pulmonary function test she had done on him the week prior. She said everything was excellent. So, while looking at a recent x-ray, she even noted that the lungs and heart looked fine and normal there as well. But when she got to the echo, she said there was something in it about possibly a very mild case of pulmonary hypertension. Of course this scared us to death as no one ever mentioned that to my husband back when that test was done, In fact, when the doc went over the results of that old echo they said everything was fine and normal. Anyway, she said just to be sure, she wanted another one done to make sure nothing has changed and that we could go from there.

Cont. below.......

[Mom2four85]

I would mention to the dr in this post about the ASD and see what he/she says...

the septal defect may be attributed to HCM but I can't remember exactly - what about finding a HCM specialist from the HCMA? you can call their office and Lisa will help you.  (4hcm.org)

I was told by one cardiologist that Mayo clinic is the best place to go when dealing with genetic disorders; you may want to at least think about getting an appt there and finding out what's going on.

[GirlGhost]

I just posted about it last night. Info can be found here. Something we were not expecting at all. Thanks for remembering and asking.

http://www.medhelp.org/posts/Heart-Disease/Atrial-Septal-Defect/show/1838711

[Mom2four85]

how did your son's echo go?

[GirlGhost]

That's terrible that you had to go through that! And glad you are doing well.

We most likely won't have the genetic test done. Our son (he's 18) will have an echo tomorrow then one next year and then one every 3-5 years until he's 40 as the cardiologist suggested. Unless of course something shows on his tomorrow and she makes other suggestions, but I'm hopeful it won't. And even still, if nothing shows by the time he's 40, we know that it can still come years later as was evident with my husband and FIL.

But yeah, we had plenty of time waiting for husband's appointment to read up on this condition and all the signs and symptoms associated with it. And we will definitely take things seriously.

[Mom2four85]

there are many times that the first symptom that someone with HCM has is sudden cardiac arrest or death; sorry to sound morbid but there are some who go their whole lives; have it and never know until it's too late; so it's a good thing your husband had the SOB and found this out as well as his dad being dx.

have they thought about testing for genetics? some insurance pays for it; especially in cases where there are more than 1 case diagnosed.  I believe it's about $3,000 for the first person to do it (not sure what your deductible etc are) and find the component then $250 for each relative after because they've pinpointed the gene and can test

familiarize yourselves with symptoms and tell him not to downplay any symptom - I did it for years starting with the sob and a dr saying I was out of shape and I ended up fainting driving but thankfully didn't hurt anyone when I did and made it through.

I try never to over react; I normally take a cautiously watching approach and listen to my body; but HCM/HOCM can be quite deceiving with symptoms....and your son should keep having echo's to make sure he hasn't developed it and keep an eye out for any symptoms.

[GirlGhost]

Thanks for the info Mom. Luckily the docs haven't treated hubby like he was exaggerating, or out of shape (cause he's not), etc. They believed he had shortness of breath with no explanation (which is all he really is experiencing) and that started off the battery of tests. Luckily for him, his is a very mild case.

Since it's hereditary, we believe my husband's father also has this. 3 years ago he had a a single sinkable episode and ended up with a pacemaker. And as hubby described all the symptoms to him that are possible with this condition (once he found out he had it), my FIL sat there shaking his head yes, acknowledging he too had them over the years. Only he ignored them, I guess. He'll be 80 next year and healthy as an ox aside from the pacemaker. Thankfully he's still with us considering things could have been a lot different.

Thanks for responding and thanks for the info about the site. I will definitely keep it bookmarked.

[Mom2four85]

I have obstructive Hypertrophic Cardiomyopathy but didnt find out until I was 42; which is pretty common to happen - it's a very difficult disease sometimes to diagnose due to non specific symptoms such as SOB, Chest Pains, Arrhythmia's, lightheadedness/black outs & fainting.

HCM/HOCM can be very mild and still cause major symptoms or be obstructive and cause little symptoms.  some symptoms of HCM may be under appreciated even by the patient and doctors and think we're over reacting or "out of shape".

The Hypertrophic Cardiomyopathy association of America (there's a Euro site also) has a ton of useful information, treatments, dr's and even financial help for people who want to find out what genetic link we have www.4hcm.org/

My HOCM wasnt found until a cardiac cath showed that's what it was; even a cardiac mri was pretty non specific and other tests didn't really point to anything conclusive.

I keep a journal of dates, times and symptoms for me and my children...I've had fainting (syncope) episodes since age 9 and both of my daughters (26 & 10) started fainting when they were young; which is one common symptom of HCM/HOCM - especially with exercise/exertion.

Due to my fainting and arrhythmia's from HOCM I had a pacemaker/defibrillator implanted back in 2009.

please pm me if you have any questions or want more info about the HCMA and testing/dr's etc.

[CCFHeartMD19]

This is great.
I am glad that this worked out well. Close monitoring would certainly be important.

Good luck

[GirlGhost]

So, I just wanted to give a little update as it may help others who come here with similar test results/symptoms/etc. and who are scared and confused like my husband and I were.

Well, my husband had his cardiologist appointment today and it turns out she says he has a very mild case, in all parameters and aspects, of the condition described above. She also said it's pretty common. And, based on looking at his echo, she is very confidant that treating it with medication (Metoprolol) will be sufficient enough. Of course he will have to be periodically monitored, but that's ok.

We also had our 18 year old son with us and she even did a quick check up on him (which was very unexpected but very sweet of her) and sent in a request to have an echo done on him to see where he stands.

My husband will also have to wear a monitor for the next three weeks just to see exactly what's happening when and if he has any discomfort at all (shortness of breath, pain, etc.) and we will go to a follow up in December.

Anyway, I wanted to again thank you, doc, for your insight and help. It was very much appreciated and helped put our minds as ease a bit, until our appointment today. Thanks!!!

[achillea]

I'm sure this is all very confusing at this point (though it sounds pretty good now), and then there's the delightful phenomenon that causes us to lose our brains at the door when we have a doctor's appointment.

I have found it useful in the times between appointments to sit down with a notepad or computer and write down the questions I'd REALLY like answers for--leaving space for the answers.  Then I take that with me to the appointment and literally read from it.

At least it makes sure that some of my questions are answered.

[GirlGhost]

You'd think the exercise stress test he just had done a few months ago would have shown signs of distress if he has this, wouldn't you? But nope. He completed it like a champ and they said the results were excellent. Weird. I mean, is it possible for this doc to have completely read this echo wrong? I find that hard to believe, however. I mean, he must be seeing "something" and not just pulling things out of his, well, you know. Right? It's just so strange. Even the family doc, when he got a copy of the report, was like, "It's strange that this wouldn't have show on the previous echo from 2007. Let alone to be like it is now, since then." It's weird to us too. We're of course hoping its all gonna be ok. Thanks again.

[CCFHeartMD19]

This is great. I dont think I would need any further information since you are already following up with a cardiologist.
It is hard to make a decision or give you an accurate response without meeting your husband in person.
Having normal blood tests is a good sign for sure.

Good luck.

[GirlGhost]

OMG, I just sighed in relief and busted out crying at the same time. At least it sounds a little more promising. He text me from work (he works at the hospital) to say he had a copy of the report sent to our family doc who called him immediately and recommended a follow up with a cardiologist who also called him right away with an appointment on Halloween. Of course the quick calls has him freaking out and thinking the worst.

I do have all the numbers and writings from this report if you'd like me to post anything specific? It's so strange cause just reading this most everything says stuff like: "normal in size", "functioning normally", "No evidence of defects", "Structurally normal", "No stenosis", "No insufficiency", etc.

And yes, he originally was trying to find out why he sometimes has shortness of breath. And it can happen just walking, climbing stairs, after eating and walking, after/during exercise, etc. But not always. Just random. And it doesn't last too long. Just had all us perplexed since EVERY single other test (various stress, blood, previous echo, chest x-rays, etc.) has come back fine and normal. Thanks so much and let me know if you want me to post anything more off this report.

[CCFHeartMD19]

Hello,

Thanks for your question. Although I am unable to give you an accurate assessment of the situation without seeing the echocardiogram myself, I can give you some general pointers of benefit.
First of all, there is nothing to be scared about. If your husband has a condition, it is better to get diagnosed early since most of the cardiac conditions are satisfactorily treatable if diagnosed reasonably early.
From what I understand, your husband has shortness of breath which prompted all these investigations. Hypertrophic cardiomyopathy which is the disease in question, refers to abnormal thickening of the heart muscle that separates the right and left side of the heart. Due to its location, it may result in obstruction to flow especially during exertion or high heart rates.
That being said, it comes in various grades and flavors and not all hypertrophic cardiomyopathy needs treatment.
What you need at this point is consultation with a cardiologist who specializes in the treatment of this disease. I think hypertrophic cardiomyopathy is out of the scope of pulmonologist and I would recommend seeking opinion of a cardiologist.
In most cases, the symptoms can be adequately controlled using medications and a close follow up. In case the condition progresses, there are several options that are available surgically or using catheter techniques to completely cure this condition.
Bottom line is that the diagnosis needs to be conclusively established before any of this can be pursued. Even if your husband has this disease, it is a very treatable condition.
Hope that helps

[GirlGhost]

Cont.........

Well, he had it done and under each thing like left atrium, right ventricle, etc., everything says stuff like "no evidence of deffect", "normal thickness", "normal size", etc. However, the conclusion says, and it has us scared to death what it means,: This study demonstrates a hypertrophic cardiomyopathy with asymetrical septal hypertrophy and a significant gradient across the LV outflow tract.

What does that mean? We were in tears and are thinking the worst and won't get to see the doc again for some time to discuss the results. I of course have numbers and stuff listed on this report under each thing if you want or need that info. I hope someone can answer me soon. We're scared to death.

Also, he is NOT diabetic and his BP is always normal.