Another Little Survey--BAV Body Type

[francie12]

Hi--
The previous thread about body size and MVP encouraged me to ask a question that I've been wondering about for a long time. Do people with BAV tend to have a certain body-type? My son is very "Marfany" looking with some, though probably not all, Marfan characteristics (he is being followed for it by a genetics dr). Just wondering if BAVers tend to look like this.
Thanks to anyone who would like to respond.

 

[Mary]

Nope,
Neither I nor my son have the long, lean look often associated with Marfan's.
I'm 5'4", used to weight 104 pounds (Oh, how I long for those days!) and Paul is 5'10" and 155 pounds of muscle.

 

[Susan BAV]

I've been wondering this also, and particularly after that thread you mentioned, Francie. One of my sons has at least a few Marfan characteristics but evidently he doesn't have a bicuspid valve. (He had an acquired traumatic closed head injury when he was thirteen and I think that slowed/changed his height growth from what he might have been.) I think he's about 5'10" now, in his mid-twenties, and muscular.

By the way, this question came up recently, do all Marfan patients have bicuspids--does anyone know that answer?

I'm 5'4" (my one sibling, a brother, is a foot taller than me--no Marfans) and I was always slender until my thyroid began misbehaving. Is that what you mean for body type? For most of my life, I looked like the average picture of good health. [added later - I have small hands and feet and with good arch, no stretch marks, no hyper-flexibility, good vision until the thyroid issue began and now near-sighted; however the son I mentioned with no bicuspid has particularly long fingers and toes, flat feet, recurring dislocations, near-sighted. When having orthodontic work, we both were told we had crowded teeth.]

Another "by the way" question, was Marfans something Abe Lincoln had?

 

[Jeff S]

Hi,

I was originally diagnosed with a BAV in 1990, and at that time, my doctors were considering Marfan's. Back then, I was 6'4", about 200 pounds, and I fit some of the characteristics--tall, skinny, big hands and feet, etc.

But I didn't have a displaced lens and concave chest characteristics, so Marfan's was ruled out.

In the buildup to my valve replacement surgery in November 2007, my PCP wanted to rule out Marfan's again. I had to have my eyes checked again (still no dislocated lens). My surgeon, Dr. Kouchoukos in St. Louis, is an expert on Marfan's. When I met with him, he told me I didn't have Marfan's.

By the way, some histoirans theorized that Abraham Lincoln had Marfan's, but I don't think that was ever proven.

Jeff

 

[thenewmarket]

My BAV husband is 6'0", normal weight, small hands. He has had a macular pucker and he had to have a total hip replacement five years ago. We have asked every doctor if they see a correlation and they have all said no. The hip replacement was long before any clue manifested about the BAV. Originally, they said the hip was due to a childhood illness or an injury. We suspected rheumatic fever but that has been ruled out.

Interesting survey!

 

[DebbyA]

BAV and sturdy peasant stock stocky...

 

[pamela]

In order for a geneticist to diagnose a patient with Marfan Syndrome, Ehlers-Danlos or Mixed and Undifferentiated Connective Tissue Disease, there needs to be a complete consult and a very involved medical history (with questions about familial traits and hereditary disorders) completed.

At least 2 of the 6 body systems most effected by the genetic traits should bear signs of connective tissue disease:

Occular - high internal vitreous pressures as a predictor of glaucoma or dislocation of the occular tendons...

Skeletal - EDS makes provisions for short, stocky individuals and Marfans for a tall, lean body with long digits and concave or peaked sternum as well, combined with the Central Nervous System, the dural tissue could be effected and exhibited by sciatica, chronic lower back pain, scoliosis can be present, etc. Joints can be highly flexible, the palate can be very high with crowded teeth and patients often have flat feet.

We know Cardio problems such as valvular prolapse and stenosis and aneurysms, plus the vessels in the abdomen can be very tangled (as are mine) giving rise to kidney disease and clotting problems.

and Marfans sufferers also have increased risks of pneumothorax.

UCT Disease patients will be diagnosed if there are related signs such as those above and hyper-elastic skin, psoriasis, detached retina, astigmatism or myopia and the list goes on.

I think that if you have dislocates, wear glasses and have valve disease a consult with a geneticist should be considered and not dismissed out of hand. My PCP asked me what I hoped to learn in such a consult, I have children and would have thought that the answer to that was evident. To end the conversation he said he wouldn't feel comfortable writing the order for a consult and I've got multiple connective tissue problems. I'm going to approach my Internist with the cardiology fellowship about initiating the order. If it weren't such a difficult process, where I live, to replace my PCP I'd seriously consider doing so.

 

[positive]

survey

survey

My doctor did tell us that valve issues are connective tissue disorders. A severe form of connective tissue disorder is Marfa's syndrome, so I think that they are related in that sense.

 

[Wise]

I'm 5'6" and my natural body type is average. I have some weight to get rid of, but my natural body type is not stocky.

 

[francie12]

From these responses, so far it doesn't look like BAV bodies tend to look like Marfan bodies... I'm told that there are many types of connective tissue disorders and only the more major ones have names. Guess there's alot more to be studied in the area. I know that Abe Lincoln has been suspected of Marfans, but I guess there is no real proof. And I'm pretty sure that most Mafan people do not have BAVs, though BAV is listed as being "associated" with Marfans. Thanks for the responses...hope we get some more.

 

[briansmom]

Interesting thread.
Pamela, thanks for the info on the connective tissue disorders. My son is going to Loma Linda tomorrow for a consultation with their Marfan Cardiologist. My son is 5'11" (I think he would have gotten taller if it weren't for his heart problems, he was only 5'8" when this all started). My son has extremely long arms, but no lens problem and no hyperflexibility. We do not know if his valve was bi-cuspid, I think that it was too destroyed by the dissection.

 

[aussigal]

From my reading I have learnt that BAV is a Connective Tissue Disorder as is Marfans. Marfan sufferers also have the delicate Aortic tissue we BAV's have so that may be where it gets a little confusing for us. Marfan patients do not generally have a BAV. "googling" Connective Tissue Disorder will pull up lots of interesting bits of info for those who would like to read more, and Ehlers Dahnlos Syndrome is another disorder of the connective tissue that shares some similarities with BAV but seems to be much more severe in the dislocation and flexibility areas.

As for body-type, myself and our 2 boys that have BAV's are all of similar stature....tall'ish and muscular.

 

[Magic8Ball]

6ft4ins, big hands & feet, quite flexible in my youth.

BUT 260lbs, never had a dislocation...some big break's which should have dislocated but never did.

Wear glasses for computer use but generally good eyesight.

This post however did take me back to when i was getting fitted for a suit for work and the taylor made the comment about me having a flat chest so perhaps there is something in this.

I guess its a little like autism, its a 'spectrum dissorder' and there are many flavours to it....i may just be slightly diluted..

 

[Elcarim]

Um, 5'5", medium build. Pretty much spot on 'average' height and recommended weight for a female. I have big feet, but they run in my family (mum and sister wear size 10, nana has same size feet as me but is 5'2"). Small hands. Only other connective tissue symptom is that I got bad stretch marks when I was pregnant.

If I remember correctly, I had two leaflets fused, rather than a true bicuspid aortic valve. Just bad luck really, and by the time it was found it was too late for repair.

 

[KAJ]

In regards to Abraham Lincoln, while there are some historians who speculate he had Marfans, there also those dispute that speculation.

When I was first diagnosed with BAV in July of 2001, the cardiologist strongly suspected I had Marfans but did not request further testing. I am 6' 1"", thin, about 180 pounds, I am near-sighted and had surgery for the correction of a severe concave chest (pectus) at the age of 22.

A couple of months later, we decided to run, not walk from that cardiologist. The next one (whom I still use), said I do not have Marfans but he did not order further testing. On a side note, when my surgeon came to see me the night before my surgery, he looked at my repaired pectus and stated "that is going to be a challenge." Not what I really wanted to hear but at least he told the truth. He then delayed the surgery by a day because he wanted a pulmonary function test. My RN wife said she thinks he wanted to buy more time to take a closer look at my records since that was the first time he actually saw me because we are from Jacksonville, FL. In his surgical notes, he did say the repair complicated getting exposure to the heart but he was able deal with it.

In addition to all of that, out of our four chlildren (a daughter) has been diagnosed with BAV. She is also tall and thin. She was evaluated and tested by a geneticist for Marfans and other conective tissue diseases but everything was normal.

Karl

 

[Andrew'sMom]

Andrew (BAV) is tall, thin, larger than average hands & feet. He does not have Marfans.

Pamela, in regards to your difficulty getting your PCP to write you a referral to a genetics dr, I'll share this quick story with you. Andrew has been through a genetic workup during the last year. In addition to his heart defects, he has a bifid uvula, a submucous cleft palate, extreme flexibility & a large hemangioma over his lower back. As all the {MANY} results were trickling in, copies were sent to his PCP. At his well check a few months back, his PCP was thumbing through the results and made this comment to me: "I see we have done a lot of costly and unnecessary testing on this fellow." I relayed this story to Andrew's cardiologist earlier this month and he looked me squarely in the eye and said "The best advice I can give you regarding that is to find a new doctor." and further went on to say that each of the genetic tests was dead on for testing for disorders which Andrew specifically had characteristics of.
The geneticist who we see said that one birth defect can often times be a "flook" -- but when several birth defects are found it almost always warrants a genetic work-up.
Good luck in getting your referral. I'd definitely discuss it with your cardiologist or internist.

 

[Resqrn]

Interesting thread, I am short and stumpy BAV, (5'5, 205 lbs. at surg and diagnosis). So the docs looked and said "oh you dont have Marfans" so the aorta was not looked at so closely in the beginning. But because of the surgery it was dropped, and the emergent problem was fixed. The docs talked about EDS, but nothing has come of it. Hope it goes along with your question.

 

[PJmomrunner]

I agree with Magic8Ball that it seems that BAVD and MFS are part of a (wide) spectrum. I am 5' 10", naturally (and struggling to be) thinish, quite flexible and very near sighted. I have not had any dislocations but do have frequent painful overextensions of both hip joints at the slightest provocation. I have had the genetic testing and been found not to have Marfan Syndrome.


Pamela - I understand your frustration with your doctor's lack of interest in a definitive diagnosis. I felt the same way and got testing and a consult with a geneticist. In retrospect I would say that since treatment should be identical regardless of a diagnosis of MFS or BAVD, and should include screening of children, it's the treatment that matters, not the specific diagnosis. Be insistent on the screenings/periodic checks of the kids; both my kids have been checked by echo and found to have TAV's, but I will probably request future checks anyway since an echo is just not definitive.

 

[Turkey Hunter]

Nor do I have the long lean look of Marphin's.
I am, however, very tall...around 6'6" but I weigh about 250#'s and that's pretty trim for a guy with my frame.

When I was a kid going to the doctor, I remember the charts on the wall that told you what you should weigh with your current height and bone mass, and I was off the charts for bone size and wieght....Still am off those charts.

Hope that helps,

 

[CHDDoug]

I just had my BAV replaced (33 years old) and I'm 5'9" and weigh 200 lbs (mostly muscle). I work out quite a bit. I certainly wouldn't say that I'm skinny.