Anyone heard of TAM going for the heart muscles ?

[Roy (UK)]

Hi All,

Brief History:

I developed Atrial Fibrillation (abnormally fast heart rate) following a bout of food poisoning back in 2008 at the age of 58.

After nearly 2 years of cardio-versions and cardiac ablations (now aged 60) my GP thought it would be wise to put me on Statins for borderline cholesterol.

After just 6 weeks on Atorvastatin I suddenly felt the muscles give out in my lower back.

I stopped the Statin's immediately although my GP was very doubtful that these were the cause.

Just 4 weeks after this the muscles in my abdomen went, rapidly followed my an increasing weakening of my thigh muscles and the my forearms.

At last I had a blood test which showed a CK of 4000.

After 5 months of being told that I had a 'Statin induced Myopathy' and would start feeling better any day - I'd had enough.

I paid to see (probably) the top neurologist in the country who, within 20 minutes, diagnosed that I had something more serious and said that he believed that the statin's had triggered a rare genetic defect causing a progressive muscle wasting.

A muscle biopsy, full body MRI and EMG tests were ordered.

These revealed that I had a Tubular Aggregate Myopathy and had already suffered severe muscle necrosis in most of my body. 

They gave up trying to fix the heart 2 years ago and gave me a pacemaker.

I am now 4 years into the TAM add can walk (of a fashion) with a stick about 30 feet, otherwise I have a power wheelchair and a specially adapted home and car.

Question:

At the ripe old age of 64 (not yet officially retired) I have now been diagnosed with Heart Failure - just lucky I guess.

I have the possibility of having a superior pacemaker fitted called a 'Cardio reversion therapy' pacemaker.

These are mega expensive but my cardiologist is wary that the HF may be as a result of the TAM and would therefore be a waste of 40K for the procedure.

As far as I am aware TAM does not normally go to the heart muscles.  Can anyone confirm this or have experience otherwise ?

Roy

PS  I have a CK which hovers between 700-1400 most of the time.

      Have also tried Verapamil without success.

[georger]

Hi Roy,

Sorry that you are having such a rough time.

The nature of TAM, being way beyond rare, likely the result of several different mutations and very variable, makes any absolute statement about cardiac involvement difficult. As we know heart disease is common, so that it will often coexist with TAM without being causal. I have looked at the medical literature a number of times over the years and have not been able to pin down a single definitive case of cardiomyopathy from TAM, but then the medical literature on TAM is full of contradictions, wild speculation and errors. Specialists that I have consulted seem to think they can quickly Google TAM and inform themselves, but it does not work.

Another complication is that many more people have TAs than have TAM. There have been several studies of thousands of muscle biopsies and something like 1% show TAs, but only about a tenth of that 1% have TAM. So some will have a diagnosis of TAM, for want of a better diagnosis, on the basis of a few TAs. There is at least one unnamed myopathy with TAs that does lead to cardiomyopathy.

You mention widespread necrosis. This does not sound like TAM, TAs being a defense against necrosis. My rough understanding of TAM is that it is a failure of regulation of calcium influx into the muscle cell, a mutation of the STIM1 gene being one cause. Calcium ion levels are abnormally high and the cell protects itself against necrosis by locking up calcium in TAs. This is why calcium antagonists such as verapamil may be helpful.

So IMHO if you do have TAM (and I doubt myself sometimes) then it is very unlikely but can not be ruled out as the cause of heart disease. If you do not have TAM, then who knows? You have a horrendously difficult decision to make and I am sorry that I have had to emphasize that difficulty. Good luck.

[Roy (UK)]

Hi georger,

Many thanks for your input.

You may well be right. I recently had a DXA bone scan which showed that I had very low calcium and was borderline for Osteoporosis.
It may be that it's not TAM at all but some other progressive muscle wasting disease that manifests itself with Tubular Aggregates.
Unfortunately the condition is so rare, and there is so little information on the subject available, that I think even the top neurologists, muscle disorder consultants and myself are all clutching at straws to put a name to it.
I have had my genetic material sent to other hospitals and universities in the UK, Germany and the USA. They don't think this will be of any help to me but, if they can acquire enough samples from other sufferers, they hope that one day they may get a clearer understanding of the mutation.

I'm going to push hard for the CRT pacemaker anyway. Recent studies show that 10% of patients fitted with a 2 lead pacemaker have developed heart failure afterwards.
The new theory on this is that, as the pacemaker only stimulates the working (pumping) half of the heart, the other half of the heart decides that it can take it easy and put its feet up. Some patients then develop HF and lazy leaky heart valves - which has happened with me. I think this is the more likely scenario.

My only advice to other readers would be - don't take Statin's - there is too much new evidence that they can trigger long term heath problems rather than be an easy fix for high cholesterol. Also, don't eat fresh pineapple without scrubbing the outside of the fruit with a nailbrush first - that's how this whole chain of events started.

Still smiling,

Roy

[leteeters]

Roy Sorry about your situation hang in there. The specialist that diagnosed me with TAM (Wake Forest University Hospital) said that TAM only affected the long muscles in the body not the heart. I am 46 years old my CK levels hover between 300 and 600. The specialist told me that TAM wouldn't kill me but that it would be extremely painful so far he has been right. Glad you are still smiling ET.

[Roy (UK)]

Hi Leteeters,

That titbit of information about TAM affecting the long muscles of the body is extremely useful. I'll definitely use it with my cardiologist when I see him this morning.
Fingers crossed I get my new bit of kit.

I know that the UK free health system is viewed with a lot of scepticism around the world but I have to say that so far I have had in excess of 150K (UK Pounds)of procedures in the last 6 years and the service and care has been exemplary. I guess over our working life we pay taxes for this but, nonetheless, it's a great system.
I used to have a private health insurance as well but, when it came down to the wire, they would not pay for cardiac ablations because they were not a definitive fix to the problem and cost £22,000 each time. They were right, I've had 4 and it didn't fix the problem, but it shows how these companies wriggle out of paying when you need it and both you and the doctors want to try it.

Thanks again

Roy

[Roy (UK)]

Update:
All systems go for the new pacemaker - should get it in the next 2-3 weeks.
Thanks for everyone's input. The cardiologist bowed to your knowledge.
Don't know what we'd do without forums like this.

Off to the National Neurological Hospital in London today (7 hour round trip) but don't know why.
Probably the same with you guys - they just measure how much you have deteriorated and make another appointment for next year.

Take care all,

Roy

[Craig Lane]

Good luck with your treatment Roy.
In the UK if they don't give you a next appointment you slide off the system and you have to start from scatch as your record seems to disappear into the ether. I have been told pretty much the same regarding TAM only affecting the skeletal muscles. But like most conditions they like to complicate the issue by combining with other conditions / disorders just to confound and confuse.
Hopefully once they have fixed your ticker things will calm down for you and you will be able to get on with life. Glad that our little corner of the internet has been of assistance. Do keep in touch and keep smiling.

Craig

[Roy (UK)]

Hi All,
Just thought I'd update you and let you know that my new 'transmission' is working well. Less breathless and back to sleeping 6 hours a day instead of 13.
It comes with a bit of kit that sits on the bedside and downloads information from the pacemaker every night between 2 and 3 in the morning. The computer at the hospital analyses this information every day and alerts the doctors if I need adjustment. Clever isn't it.
Other good news is that I've been able re-start my physio regime. I couldn't do it before without getting out of breath.
It's tough going but I'm slowly feeling the benefit and it improves by a few seconds each day

Roy

[georger]

Hi Roy, that's fabulous news and thanks for letting us know. Things have to work out sometimes or we would all give up. So some good news helps us all.

[larrysc]

I'd like to throw my two cents in here about TAM's affect on muscles. The doctor who diagnosed my case of TAM, the Head of Neurology at John's Hopkins, and the team that did my biopsy all said the same thing. The muscle samples had to be taken from the muscle closest to the bone, because that is where tubular aggregates are most likely to form. I take from that, that the muscle fibers that connect the muscle to bones is the predominant area affected by TAM. With that being said, it follows that the heart is not involved or affected by TAM. The current evidence supports that conclusion but does not rule out the possibility of cardiomyopathy or some other heart muscle disease. As for TAM affecting the long muscles I cannot say. Perhaps the intent was to say long fiber muscle cells and perhaps those are the muscle fibers located closest to the bone. I believe this to be the case in that at least in my case, my hands are involved including fingers which I would consider short muscles. Just my thoughts and experience from talking with the doctors that diagnosed me.