O/T Medical question Marfan Syndrome Options

[spare time toys]

Does anyone here have a relative with this? Our little girl has been diagnosed with it. They did the echocardio and she has a slight enlarging of the aorta. They said to come back in a year and they will remeasure, I just want to know how this changes things if you have it in your house? She is just not suposed to play high impact sports.

Thanks for any info.

-Larry

[ConeDodger]

Does anyone here have a relative with this? Our little girl has been diagnosed with it. They did the echocardio and she has a slight enlarging of the aorta. They said to come back in a year and they will remeasure, I just want to know how this changes things if you have it in your house? She is just not suposed to play high impact sports.

Thanks for any info.

-Larry

Phenotypically these are usually tall people with long features including fingers and hands. I recall from anesthesia residency that they can develop cardiac dysrhymia and clots rather suddenly.

Surely there is a society or organization that has better information. Sorry, I really don't recall much more than that. I am not trying to scare you. I recall they live pretty much normal lives.

[spare time toys]

We have been reading on the natiolal marfan site. We are just looking for some one with personal experiance. She is tall 5' 11" and 110 lbs and just 14. She has scholieosis and the wider wing span than height. She fits 95% of the criteria and we have to go to the genetics guy after the first and they can do the final confromation when they look at her DNA and chromozones.
Scarry stuff from the reading.

[echocanyons]

Phenotypically speaking there are half a dozen other diagnoses that are similar to Marfan's.

Marfan's has a spectrum (mild-to-severe) as do many other syndromes.

There are a number of clinical findings that are consistent with Marfan's, (wingspan, joint mobility, etc) is this how they have come to the diagnosis? Are there other family members afflicted?

I would wait for the genetics as this is most solid evidence.

From a heart stand point if the diagnosis sticks she would be likely be steered away from competitive sports and have yearly evaluations to exam the aortic root size and growth.

Long term quality of life is generally good but there does exist the possibility of aortic root replacement. This likely would never come as a complete surprise and is usually scheduled electively for prophylactic reasons (to prevent aortic root rupture and sudden death).

My advice, see a geneticist and a pediatric cardiologist.

[sww914]

I don't know anything about Marfan's syndrome, but my son has a genetic disease, Achondroplastic Dwarfisim, like the mom & 1 twin on Little People Big World. We've been around and around with health problems with him, and I have 1 piece of advice for you. Find the very best doctors available in the country and go to them. I don't mean whatever specialist that is in a related field who happens to be near you, I mean the doctor who literally wrote the book on this syndrome. If we had depended on whoever fell out of the woodwork, my son would have died before he was 2. He's 10 now and doing great, but it was close a lot of times.
You might try to contact David Rimoin's group at Cedars-Sinai in LA. He's a pediatric genetic specialist that deals with lots of things. He did write the book on Dwarfism, but I don't know if he is well versed in your area of illness.
You are your child's only advocate. If somebody is telling you something that sounds like B.S., that's because it is. Follow your gut and you can get through it.

[Dr Evil]

That is not a usual diagnoses, indeed. Definitely wait for the geneticist. Marfan's is autosomal dominant = if you have it your kids will most certainly have it. 3/4 of patients have a parent with the disease and the other 1/4 are new mutations. It is caused by a mutation in one protein in the connective tissue. Besides the aforementioned cardio/aortic concerns are also the concerns for retinal detachment. Really, wait until the geneticist checks you guys all out and then remember, as we stated previously, the problems happen on a continuum so just because some bad things happen in the disease does not mean that ALL of them or any of them will happen to your daughter. I find it interesting, though, that her arm span being longer than her height is of concern when she also has what sounds like a scoliosed back which would cause her height to be less. Unless of course they compensated for that.
Docs aint perfect so dont quit until you get all of your questions answered. In the mean time, dont freak your self out reading all thats on the internet, much of it is sensational.

[EdwardBlume]

There is a National Marfan Society: http://www.marfan.org/nmf/index.jsp

Here is a link to the Nor Cal site: http://www.norcalmarfan.org/

I played in a charity poker tournament a few years ago with proceeds going towards it - mainly for educating physicians on how to diagnose early symptoms. From what I understand, Marfan is a condition of hyper growth which can manifest itself in unusual height or growth. The area of concern is typically the heart where an enlarged heart leads to weaker arterial tissue prone to rupture and failure. The person I know named Todd Kreuger, has the condition, is easily 6' 10", has had open heart surgery before age 30, and is a very strong advocate for stronger screening. It is thought that some famous people with Marfan may include Abe Lincoln, John Ritter, and numerous sports athletes with sudden heart failure and death.

Good luck and may God be with you and your family!

[Dr Evil]

Most of the sports athletes with sudden failure of the heart had hypertrophic cardiomyopathy. The main issue with Marfan's is the protein that is screwed up in the connective tissue which does lead to hyperflexible joints, retinal detachment, and mitral valve prolapse and aortic dilation and dissection. One interesting bed side test is to see if one can ring their wrist with the pointer and thumb. If you can do this you may have marfans....supposedly. Arachnodactyly is a very common finding (look it up in google images).

[orthobiz]

As a regular practicing orthopedist, I've seen the occasional patient with Marfan's. To reassure you, there's lots of BAD stuff on the web, as you've found out and as the Good Dr Evil already pointed out.

Not knowing much else about your daughter's case, I find it encouraging that she is being worked up for possible Marfan's at age 14. What this means to me is she does not have a severe case. Believe me, when it's severe, the kids find their way into the cardiologist, ophthalmologist and orthopedist when they're exceptionally young!

You didn't mention why she is thought to have it... a height/weight issue or is she having a heart murmur, or blurred vision?

As far as picking a doc, stick to what your pediatrician says to start with. Marfan's is common enough that most pediatric orthopedic surgeons are comfortable taking care of scoliosis and other possible problems. When it comes to book-writing docs, some of them write the books because they know the most and are the best. And some write the books because they're not that great in the OR but sure know how to pen a page turner...Kinda like the "those who can't, teach" phrase.

Best of luck,

Paul

[spare time toys]

She went in for just some normal stuff and saw a new Dr. She found her blood press. was 140/110 and questioned family history and meds. She would not let them come home until the blood press went down. Her old Dr. would just pop in mumble some stuff and leave so they started going to this new one who just sees females. They liked her and it was on the third visit she asked if she had ever been checked for this. She has 90% of the in office check stuff. the one where you grab around the wrist on her she can get to the second knuckle. She also has the back issue as well as the sunken chest and joint flex. She sent us to a Dr. Akoe who is listed as the top child heart specialist in Dallas. We did the office tests for her and the ultrasonic heart measurements thats when they found the enlarging of the aerota. She said that she was almost positive Lizzy has it but wants to hold out for the genitics guy. So we will see what comes out of that visit.

Thanks everyone for all the info and the links (IMG:style_emoticons/default/beerchug.gif) the marfan.org one is where we have done most of our reading