Genetic Cardiomyopathy

Hi,
My name is Jessie and I am 28 years old. My twin sister and I have both been genetically tested and found to have dilated cardiomyopathy and conduction disorders that go along with it. We are still waiting to get more information on everything since our appointment isn't until next week, but we are freaking out.

We started out with all electrical problems, so got tested thinking that would be it-instead we found out it is conduction and dilated cardiomyopathy. My sister's left ven. is slightly enlarged but still considered in "normal limits" and she has an ICD. Since I have some arrhythmias I am scheduled to get my ICD in the next few weeks.

We have only known the diagnosis for 2 days, but feel like it is a death sentence, even though we know it may not be, but we are panicking. We are having trouble sleeping, eating, and cry a lot. Much of the information we find on the internet is very saddening and doom and gloom. I was just wondering if other people here had trouble adjusting to the new normal and handling the news. How did you feel better about your diagnosis? Just looking for people to talk to also. Anyone out there have genetic dilated cardiomyopathy?
Thanks

7 Comments

Genetic Cardiomyopathy

by Baz - 2013-09-01 03:09:24

Hi Jessie,

I fully understand your feelings and I wish very much I had some magic words to make you feel better.

I was twice your age when I found that I had Dilated Cardiomyopathy caused by an electrical blockage in my left ventricle. I was not told it was genetic but, my mother had an enlarged heart which I think is caused by dilated cardiomyopathy.

It has taken me three year's to sort of come to terms with it, so please allow yourself to have these bad feelings it's perfectly natural to feel that way.

Since having my bi-ventricle pacemaker my heart is now (to quote my cardio) normalised in size and my EF is back to within normal limits.

I wish you well for the future and try to be strong (easier said than done I know)

Baz

find the cause first

by KathyB - 2013-09-01 04:09:08

as previous people said, find out what is causing the cardiomyopathy. I developed it this year and they found out I was born with an atrial septal defect. This hole was closed without open heart. it was done in the cath lab. I also developed conduction problems which bought me a pacemaker but my Ejection fraction is normal and they feel my heart may reduce in size with the proper rate and blood flow. we shall see, I have an echo apt next month. Keep your chin up and don't panic until you get all the facts. Hope this helps and glad you found this club. It is very helpful.

Relax & answer a few questions...

by donr - 2013-09-01 04:09:44

Jessie: You are a prime example of the hazards of being genetically tested. I am not a geneticist - just a simple minded Electrical Engineer. I just finished reading a book about genetics called "The Violinist's Thumb." I am just about as confused as when I picked the tome up on the cheap table at Costco! BUT - I did understand a few things about genetics that I did not when I went in. The author talks extensively about the situation you face - he faces it also, but about Parkinson's Disease. He likewise was afraid it was a death sentence to carry the gene, but his first impression, upon reading the report he got back was that he was clear of any problems. Then I rec'd a second report that told him he had a "...slightly elevated..." chance of developing the disease.

He also wrote about identical twins not really being identical. At this point in your lives, it might be advantageous to get a copy of the book & read it - may give you some peace of mind.

BTW: it's a really fun book to read - over 300 pages & I kept it in the bathroom & finished it in about three weeks.

Now to the questions:

1) DO you actually have cardiomyopathy? I was NOT sure from the way you wrote your post.

2) Did you have genetic testing after being diagnosed w/ CM?

3) Did "They" tell you that you were definitely going to get CM because of your genes?

4) If you already have it, how far advanced is it?

5) I could not tell if the symptoms your sister has are because of CM or not. Ditto for you. Realize that scads of people have your conduction problems w/o CM, so if you have NOT been actually diagnosed w/ CM, all is not lost.

6) Just because you have the gene does NOT necessarily mean you are predestined to get the disease. So relax till you have the appt w/ the details. (I know - easy for me to say - I'm not the one w/ the problem)

Don

Not a Death Sentence

by Grateful Heart - 2013-09-01 05:09:14

Although I thought that too. I was diagnosed with dilated cardiomyopathy, enlarged heart, Left Bundle Branch Block and Sick Sinus Syndrome (conduction problems). My EF was 24%, then 30% after 6 months of meds. I was told I needed an ICD and was not told much else.

Yes, it was very scary and a lot of tears. I thought it was just a matter of time too. That was how I left the Doctors office, no explanation, a lot of questions and no where to turn for answers. I no longer go to that Doctor for a number of reasons.

Anyway, that was almost 5 years ago. My EF is now normal (50%), I no longer have an enlarged heart and the ICD helps with the rest. I have had great success with my ICD, as Baz has above. A few bumps in the road but what road doesn't have bumps?

It sounds like an ICD will help improve your condition and your sister's too.

I didn't come across this site until 2 years after my implant. You will not find doom and gloom on this site. Most members are encouraging while being honest with each other in their responses. There are some very knowledgeable and kind fellow pacers on this site.

Learn all you can about your condition and device. It will help ease your mind and the fear. Knowledge is power! This is a great place to start.

So take it a step at a time. It is a lot to take in but accepting it in time is key. It sounds like your Doctor is on top of it....a big plus.

If you have any questions, ask here. We have all been there and are willing to help.

Welcome to the club!

Grateful Heart

Thank you

by beardog - 2013-09-01 05:09:22

Thank you all for your responses. Yes, we are meeting this week with our local cardiologist then with the specialists who did the genetic testing who are also EP's and cardiologists to get more details-it's just hard waiting.

We had genetic testing due to electrical issues. First is was SVT, then heart block, then ventricular tachycardias.Most cardiologists thought it was Long QT or CPVT, but when tested genetically it came back that we have the gene for dilated cardiomyopathy with conduction disease...so we already have the conduction disease, I am getting more info about the rest when we meet. DCM could develop, it couldn't, it could be severe or mild. As for now we have electrical problems showing, my sister already has an ICD and I will be getting one put in. Many times with the gene you start with electrical problems then progress to dilated cardiomyopathy, but no one really knows for sure.

Well, at least you...

by donr - 2013-09-01 07:09:54

...answered my questions.

There are still a ton of unanswered questions from the cardios. All of it boils down to probabilities., There is nothing absolute when it comes to genes, especially human ones - we are a bit too complex for that - except that we will all die eventually from something. (You can credit Jacqueline Elders, Pres Clinton's Surgeon General, for that bit of wisdom.)

Considering that this is 2013, not 1913 - before we even knew what genes held in their makeup - you both stand a pretty fair probability of living (As opposed to surviving) for a long time yet. All the outcomes are probabilities, yet to be accomplished fact.

It has just been in YOUR lifetime that we understood enough about genetics to even begin to lay out a treatment protocol for people w/ your problem. Or, for that matter, to even know that there was a gene responsible for causing the kind of problems you two face.

You said it yourself right here: "DCM could develop, it couldn't, it could be severe or mild."

Perhaps you will skip or delay the DCM w/ the electrical problems counter-acted - no one knows for sure - you also said that in your last sentence.

You would be amazed at the number of people in here who are living w/ the same uncertainties as you & your sister. There are many cancer survivors who are members - lung, breast, prostate, you name it, some one of us have been there & done that. Some of us for many years.

It's all right to freak out & be anxious a bit - you are facing an uncertain future at a young age. If you are rational & courageous & fight it like H***, you will be writing this note to someone some day. It has been done before & you can do it for the next generation. You are not alone. Welcome to the club.

Don

beardog...

by lubro - 2013-09-03 11:09:38

you have gotten excellent comments from members who have experienced many of the things you and your sister are going thru... I just wanted to wish you well and say that no matter what, you are not alone in feeling scared and freaking out. One of the best things about this club is knowing that you are not alone, and that many others care and are willing to advise you and help you thru all this...
hope all goes well you you and sis...
welcome to the club...

You know you're wired when...

You have a shocking personality.

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