Anyone here ever diagnosed with Marfan?

[Maryka]

Hi!

I had aortic root replacement at Johns Hopkins on December 23, 2008. I am due to return to work in a couple of weeks.

Because I have very loose connective tissue and some skeletal symptoms (like long, long fingers) I was originally diagnosed with Marfan Syndrome. (I even ran the Marfan Support Group in the Washington, DC, in the early-90s.) By the mid-90s I was recatagorized as "Marfan-like", though my children were still invited to participate in some Marfan studies. (My daughter's feet were chosen as "typical Marfan feet" to teach student-geneticists.) I took a one-year job/position in California 2002-2003, so had my "annual Marfan checkup" at Stanford. Dr. Liang of Stanford was the first person to actually pick up my bicuspid aortic valve. He put my echocardiogram on a DVD and, on a laptop, was able to stop the picture and zoom in on the calcified valve. He showed my valve and said my diagnosis should have been called BAV disease from the start.

Last year due to shortness of breath, it became extremely hard to walk from the parking lot to my office. I knew it was time to see a cardiac surgeon. I went back to Johns Hopkins with my recent echoes, CT-scans, and other test results. Dr. Duke Cameron concurred that it was time to get everything fixed. Six-weeks post-op, I think I am already breathing more easily than I was (though I am still somewhat sore).

Did anyone else out there start out being diagnosed with Marfan or any of the other hard-core genetic connective tissue disorders?

Maryka

 

[skeptic49]

Interesting post.

I am not Marfans although I too have Marfan-like characteristics: tall (6'5"), nearsighted, crowded teeth, etc. BAV disease seems in many ways similar to Marfans, although perhaps not as severe.

Jim

 

[CThrock]

I had a friend who has Marfan. She has a rough time with the pain and keeping her warfarin stable. Don't really know alot about it, know its rare to have it.
I'm sure I've seen some others on the site have it. Hope they come along and could be some help to you.
God Bless.

 

[Ross]

I have Marfan like characteristics, but I in no way, fit a Marfan's profile. I'm sure we have or have had a couple people in here that have it.

 

[Maryka]

My kids seem clear of heart valve problems and aneurysms, for which I am glad. But, I guess they should keep an eye out for these deadly health problems. Ditto for my new grandchildren. I am sad enough that my daughter has a number of problems due to her loose connective tissue. I hope my valve problems end with me!

Dr. Liang at Stanford said that there sometimes seem close associations between Marfan Syndrome and BAV. That seems to be the case for me.

Maryka

 

[Bionic Man]

Yeah, me too

Yeah, me too

I have had doctors mention the possibility but not diagnose me as marfans until 2001. It was obvious to everyone I think they were just worried about messing up my insurance future.

I had a bicuspid valve although until the surgery they weren't sure if it was fused with calcium deposits or if it really was bicuspid. Turns out surgery showed the valve completely non functional. It was the doc's opinion that it contributed to me developing dialated and dissecting aortic root.

I'm fixed now and feel much better.

David

 

[briansmom]

My son had an aortic dissection, we don't know if he was BAV or not. He is tall with long limbs and a slightly protruding chest but no other Marfan symptoms. We still don't know exactly why he dissected.

 

[francie12]

My son shares some characteristics in addition to his aorta with Marfan people--tall and skinny, long arms and legs, lax joints that can pop out unexpectedly, recessed jaw, etc.--but not enough for a diagnosis of Marfan's. Dr. said to us also that BAV and Marfan can be associated with each other.

 

[Plumber1]

I was also given the diagnosis as being Marfan-like. I am a little on the thin, tall and lanky side -- but not overly so.

The litmus test was apparent in the specimen taken from surgery and sent to lab as the ascending aorta was diagnosed as Idiopathic cystic medial necrosis. I was told this was a clear "marker" for marfans.

Mark

 

[Maryka]

I am glad that others had the Marfan label too! It really seems there are some gray-area disorders--not quite Marfan but enough to cause that label under some circumstances. I have come to love Marfan people. One of my best friends was a totally Marfan woman in FL. She totally disintegrated at age 60 and left those of us who loved her behind. Marfan people often have a theatrical talent and are often very intelligent--even if they have gone blind (an important tendency among the truly Marfan) or may live on disability much of their life. I really miss Patricia, my Marfan friend!

Maryka

 

[sue943]

There was a young man (18 as I recall) at my cardiac rehab classes, his sister had it too and an aunt who is now dead. His sister had her aorta develop problems when she was having a weekend trip to The Netherlands, she had no travel insurance, ouch. The young man had a mechanical valve replacement, not sure what else. He told me that he had Marfans, I had never heard of it but did know of his sister as she was trying to raise funds to pay for her emergency treatment.

 

[Maryka]

Skipping a generation?

Skipping a generation?

Yes. I think that for some of us there is a connection between Marfan Syndrome and Bisupid aortic valve problems. My surgeon said I should notify my grandchildren (who are now each under 1 year old) that they should watch out for BAV. Gee! I was so relieved when I had my two children (now adults and parents) have their hearts and aortas checked and they were each fine. But, it seems, the BAV problem can skip a generation. That made me remember that one of my two grandmothers (each of whom had died long before I was born) supposedly died at 52 of "bad heart valves". When she died it was decades before heart surgery, poor dear. And it made me think, maybe all my Marfan symptoms (which came from my father) were nothing and maybe my personal time bomb was BAV from my mother's mother.

I will discuss this problem with my children (and my grandchildren, if I live long enough to see them grown). I think after the Marfan fear had subsided, my kids need to have a chance to enjoy their little ones and believe they are absolutely perfect. But, I do plan to tell them about the new timebomb.

Maryka

 

[halleyg]

I am one that was told I have some of the characteristics of Marfans, but I don't have it.. could have been somewhere down the line, my grandmother's family was very tall, lanky. Also, I had my MV replaced, but cardio kept an eye on my AV for a while.