Another Little Survey--BAV Body Type

[halleyg]

The first time I saw my cardiologists he told me I have characteristics of Marfans, (scoliosis, near-sighted, concave sternum, double-jointed to name a few) but never that I have the syndrome. I am just under 5'7, so not terribly tall, although my dads family is pretty tall, his sister and other women were taller than me, and thin. Looking at old pictures I wonder if anyone had it and just some of the characteristics are passed down? He had heart disease but not valve troubles, and his mother's side (the tall, skinny ones) all died relatively young of other things. Anyhow, I have been diagnosed with connective tissue disorder. I always thought it was cool to be double jointed when I was younger, and still flexible even in my late 30's, although not so cool when I realize it probably contributed to my valve troubles.

 

[francie12]

My amateur's view is that there are degrees of connective tissue problem. When connective tissue weakness is expressed in a certain number of symptoms (or features like concave chest, long skinny limbs, etc), and it takes alot, then you are diagnosed with a connective tissue syndrome (def of syndrome is collection of symptoms). It must be that it is a continuum: perfect strong healthy connective tissue, "normal" body, on one end and weak dissecting aortic tissue, accompanied by all the other physical features, on the other--with plenty in the middle. In our family (husband's side), we have one generation of tall, skinny "Marfany" looking men who are cardiovascularly (new word?) healthy. Next generation, dilated aorta. Next generation, Marfany-looking, BAV, and dilated aorta again. The point is that there is something going on connective tissue-wise, but specifically what is difficult to say. I'm just glad we are following the aortas, which is the bottom line. Thanks for all the interesting responses!

 

[netmiff]

Bav, short and fat - no-one has mentioned connective tissue disorders to me, but I did have an aortic aneurysm that was repaired at the same time as the AVR. I have no stats on in at this time.

 

[Andrew'sMom]

halleyg -- Genetics is a confusing topic! Our dr said that there are several connective tissue disorders that can be positively identified by looking for specific gene mutations. If one does have the mutation, the actual way the "syndrome" expresses itself can be anywhere from mild to severe. A person can have a mild expression of Marfan's, with say only a few of the characteristics, but if that mutated gene is passed on through generations, there is a good chance that at some point down the line you will have a relative (may be generations down the line!) with a case of "full-blown" Marfan's. I am just using Marfan's as an example because it is a genetically passed on disorder. Andrew was tested for several CTDs because of the specific birth defects he has, as well as a wide array of other oddities the geneticist noted on his exam. While he does not have a definite outward appearance of Marfan's , L-D, E-D etc., the geneticist told us matter of factly that a positive result would not surprise her at all, and he would be considered what they call a "mild" expression.

 

[aussigal]

I don't know how the "system" works in the USA but here in Perth, Australia while I was at the Doctors one-day I just happened to see a brochure from the genetics clinic and gave them a call. They were very interested to hear from me and arranged all the relevant tests for myself and our 3 sons. We had previously had the 3 boys scanned for BAV and 2 came back positive. Two of us have/had (I got fixed) the true bi-leaflet valve with enlarged aortas and one son has the fused type and a co-arctation.

Good luck...I think this is something we should all consider. I also got the results of my tissue sample from my surgery which came back with myxamatous (sp) degeneration ie: positive for connective tissue disorder.

 

[alpha 1]

genetics

genetics

hi,
just was wandering what andrews problems are. he looks very healthy. and very happy.
alpha 1 another steeler fan

 

[Andrew'sMom]

Janice,
Andrew has a bicuspid aortic valve w/ regurg., a dilated aortic root & ascending aorta, MVP w/ mild regurg and a VSD. He also has a strong family history of ascending aortic aneurysms. One cardiologist gave us a "rough estimate" that he has about 10 to possibly 15 years on his natural valve before he will be needing a replacement (which would put him between the ages of 15 to 20 for surgery). The card's main concern with him right now is the dilation of his asc. aorta. He is kind of teetering on the line of the point the card says they would want to start him on blood pressure medication to help keep it under control. It's all a (very nerve-wracking) wait-n-see thing. His other issues that led to the visit with the geneticist are a submucous cleft palate, bifid (split or forked) uvula, mild toe webbing, various arm/leg/finger/toe length disproportions. There were also some other things the geneticist found interesting on him that I never would have given a second thought, like the fact that he has many moles over his entire body, but it was significant to her. I'd have to dig out his reports from the genetics dr to see what esle she had written on him. If you are interested, PM me and I would be glad to share more.
Best of luck with your son. I'd certainly look into Cleveland Clinic. We took Andrew there for a 2nd opinion and they were great. He is normally seen at Children's Hosp. in Pittsburgh.
Jen
ps -- you are right in the fact that he looks like a happy boy --- his pictures are worth a thousand words!

 

[PathFinder]

normal

normal

I have been thin in my childhood till my 19-th year. Then I became strong, with wide shoulders and even little more fatty - but it is part of my lifestyle. Never had history of cardiac issues in both of my family lines - my mother's and my father's.

I don't have any of the mentioned connective tissue signs, except the little stretch marks I have on by inner-and-outer hips. I went to a doctor for asking her about the possible relation of these stretch marks to any connective tissue disorder. She said: "No, yours look too normal and small to be a connective tissue disease effected. You just gained too much weight after the surgery". And really, more of my friends have the stretch marks on their lower back without having any disease.

I have a mitral prolapse of one leaflet, never concerned for a problem by the cardiologists. I was also concerned if I have the MASS Phenotype (Mitral prolapse; Aortic dilation; Skin stretch marks; Skeletal defects). But the primary sign of this phenotype is the skeletal finding again, and I don't have it, neither the near-sighted vision.

I don't know, what it is by me, but I believe that sometimes the BAV may be secondary appearance to some gene alterations of other syndromes, like the mitral valve prolapse syndrome. Just speculating...

Ivo

 

[csutherland]

I've suspected that Jerry's family has some sort of connective tissue disorder. About 3 years after his AVR I asked the surgeon if he had had a BAV. This was the 1st consult after his ascending aortic aneurysm was diagnosed. The surgeon looked at me as if I was crazy for asking. Whatever.

When Jerry & I got married he was 25, 6'2" and weighed 145, but is now at 190. His older brother has the same build only is 1-2" taller and weighs less. His 85-yr old sister has always had terrible eyesight and has a tall, thin frame & one of her daughters has the bad eyesight & has been diagnosed with hyper-mobility. The old grandpa in the family (my father-in-law) lived to be 95 but had similar build and facial features that always reminded me of Abe Lincoln, even before I'd ever thought about any diseases.
Jerry, his dad, his brother and one of our daughters all have unusually long arms. Our daughter has scoliosis, though not severe. She & her dad both have a slightly concave chest and all of these people have very long, bony fingers. Male cousins have had AVR and aneurysms, but aren't tall & skinny.

All very interesting, but I don't know what it means. Doctors don't seem concerned.