Maybe you can help me!!

[mom2bandj]

Hi Everyone,

I am new to this board. My father has recently been diagnosed with HCM and unfortunately he only knows a little about his hereditary background (he was adopted). We have been able to figure out that there have been at least 2 if not more sudden deaths in his immediate family, we are now assuming those were HCM as we thought it was just hypertension. My question is what does this mean for my brother and I and also I have 2 children with a 3rd on the way. Where do we go from here. My dad is being treated by a specialist in HCM at Mass General in Boston. Thanks in advance.

[Reenie]

Re: Maybe you can help me!!

Hi. Welcome. First thing you need to do is take a deep breath. Slow down a little. HCM can be scary. All of here know that. You and your brother should be checked with an echo for HCM. Your children should also be checked whether or not you show HCM. If you do show it, they should be checked every couple of years until age 10 or so, then yearly until they are early 20's. Then you can slow down the rate again if they continue to test negative. If you test negative, you and they both should be tested every 5 years of so. We're here for support and information. Please read through this site, to include the documentation and diagnosis and treatment sections. You will find a lot here. Let us know if we can help you more.

Reenie

[Lisa Salberg]

Re: Maybe you can help me!!

Please read the screening letter on the website. You and your brother should be screened and your children ASAP. If you are in Boston you have 2 centers to choose from that are of high quality. NEMC (TUFTS) and Brigham and Womans. There are specific doctors at these centers that specialize in HCM.
If you need names and #'s call the office and leave your number, we will get back to you next week.
I am sorry to hear of your dads passing and hope that you and your family are well.

Sincerely,
Lisa

[VonMende]

Re: Maybe you can help me!!

It is with no doubt that u all have HCM but luckily it can skip generations but that isnt a good thing either. All of u should go in for testing and if nothing is found then keep going back every 5 years. HCM can be found at any age and you will have to personaly express to the doctors or speacialists that u need testing for HCM. HCM is known to skip generations and also can affect for example u have 4 kids it could and most often affects 2 of the 4 but it also could affect all 4 or none at all. The people that do not have the symptoms and are more blunlty not affected by the disease are carriers. These carries however do have HCM but it simply isnt causing enough cellular action to cause any harm to you it stays small and hidden from tests and basicaly hides and then resufaces in the next generation or even further on down the family ladder.
So i do strongly suggest all of u to get tested for HCM.

take care

Patrick Von Mende

[Sarah]

Re: Maybe you can help me!!

I don't believe VonMende is correct when he states that "no doubt" you all have HCM.

HCM is autosomal dominant. This means that whenever a person with HCM has a child, that child has a 50/50 chance of having HCM (just like gender is 50/50 each time).

Carriers (those who have the gene but never get a thick heart) are quite rare. It is also unusual for it to appear later in life, but it is possible.

The ONLY way to know if you have it is by getting an echocardiogram (ultrasound on the heart).

In my family, for example, my maternal grandfather had "a bad heart" which we now know was HCM and of his 6 kids, 3 have it. They are all in their 50s now and no one has developed it later. Of those 3 who have kids, it is exactly 50% down the line that have HCM. We are in our 30s and still no late bloomers (everyone has all been diagnosed in the 8-15 age range). This is a pretty "typical" presentation for HCM --as much as you can say that, as it must be said that HCM has a LOT of variance, which is why it is possible, albeit unlikely, that "all" of you have it or all of you are "carriers."

So you and your siblings should be tested every 5 years as long as you test clear. If anyone "joins the club" then you would seek any relevant treatment and then get echos annually or as needed.

Anyone who is clear and has kids should have the kids tested every 5 years just to be super safe. If you are _not_ clear and have kids, the kids need echos every year till their 20s, 2 years in 20s and 5 years after 30+.

Take care and don't forget that most HCMers live a full life span. The sudden death risk can be alliviated with an implantable cardioverter defibrillator if needed.

good luck,

Sarah

[VonMende]

Re: Maybe you can help me!!

Yea sorry about that i miss-understood Dr. Maron, I was no doubt wrong, thatnks for bringing that to my attention

[VonMende]

Re: Maybe you can help me!!

HCM is usualy a familial condition and represetns a geneticaly transmitted disease. And it is autosomal dominant, meaning HCM appears in about 50% of the people in each subsequent generation. Parents transmitting the diseas is therefore statisticaly about 1 in 2. There can also be sporadic cases where a person has HCM but no other relatives in the family are known to have HCM.
Thanks for bringing that to my attention

[VonMende]

Re: Maybe you can help me!!

"Genetic skipping of a generation is rare but can appear to occur when an individual who is a gene carrier does not even have evidence of the disease on the echocardiogram. in such a circumstance, the mutant gene does not actualy skip a generation in reality, the HCM gene in that individual simply does not express itself fully, in such a way that we can see evidence of the disease with the echocardiogram."

As quoted straight out of Barry J. Maron, M.D.'s book Hypertrophic Cardiomyopathy

take care

Patrick Von Mende

[mtlieb]

Re: Maybe you can help me!!

mom2bandj,

I know how you feel, as my father himself was adopted, and seems to have passed down the HCM gene to myself. We have no medical history beyond my father, except that we have been told that my dad's mother was quite ill for most of her adult life, and died quite young. That's why my dad was put up for adoption to begin with.

My father died suddenly about twenty years ago, and we now know from reviewing his medical records that it was due to an arryhthmia caused by hypertrophy of the left ventricle. We have to assume that he had HCM, but was not properly diagnosed with it at the time. No member of my mother's family has had any heart problems at all. I am the only member of my immediate family to be diagnosed with HCM to date.

All of my doctors have told me that based on my own tests, there is no worry about sudden death. However, when asked about my father's death... they have all told me that if he had an ICD at the time, he might still be alive today. What am i supposed to think about that? I don't have any of the supposed risk factors associated with sudden death, yet if my own father had had an ICD, he would not have had that fatal arrhythmia?

If i am in fact following my father's own path, then i have about ten years or less remaining to succumb to the same fatal arryhthmia that he had. It really makes you wonder.

I will soon be seeking a second opinion from one of the specialists at the Cleveland Clinic. Prior to this, I have seen the folks at the HCM Clinic in Boston, but i do not trust the diagnosis that they have provided me with, as my father's sudden death still hangs over my head.

Take care of yourself,

Jim