Bicuspid Aortic Valve Patients

[Natanni]

Hi Guys

We are heading down to Mayo for Nathan's 10 month post op echo! As his wife, I feel so wonderful on this side of things. He is doing so well, he has been working so hard at his job, and there is no way I can keep up with this guy anymore I have just begun to research bicuspic aortic valve disease so I can prepare my list of questions for his doc; Our daughter, almost 10 yrs, who was checked just prior to Nathan's surgery by her pediatrician (and Nathan's actually, and also is Nathan's relative...also now sporting artifical valve) was found to have a murmur, close to her Dad's, when compared at the same time.

Arlyss and our Toni have been so very helpful in providing links. I am researching the BAVD site, and I guess I am just wondering what actually classifies a peron as having BAVD??? Nathan, like so many other people, had a very hard time ever being dx as "bicuspid"; It wasn until he had a 3 dimensional (and 3 TEE's during his endocarditis) echo last year at the Mayo that they firmly believed he was bicuspid, which was confirmed at surgery. I don't have his aortic root or ascending aortic measurements on hand at moment. The only other suspicious evidence is he has an irregularities of his lower lumber spine, and his vessels are very small and roll. This was a rather big deal in that an angiogram was attempted on him prior to going to the Mayo, and what should have been a rather routine procedure turned into a devasting nightmare, with multiple attempts that probably should not have been attempted. They were never able to sucessfully complete his angio due to the difficulty accessing a vessel, which is extremely unusal in such a young patient (34 yrs). This is also true in starting an IV on Nathan. Even the IV team at the Mayo were mystified by the inablilty to access Nathan's blood vessels, and how he would infiltrate consistantly in the event they found a vessel.

Nathan's Dad is a 15 yr post heart transplant recipiant for cardiomyopathy, with unknown etiology. He is now in the early statges of transplant rejection, following a 2 year battle of pancratic cancer/liver cancer.

Our daughter had the suspicous murmr, and is a -2.00 myopic, another trade mark of BAVD. She is a little short for her age and when she tried to wear pierced ear rings, they pulled her lobes down (okay I know...sounds strange but I KNOW Toni will understand that one) How many of you who have had a confirmed BAV actually have BAVD? What precautions are you taking, and how were you diagnosed? What of the given criterea, do you have? How many developed aneuryms? Is there any family history of BAV? I know I am hitting on alot of ground that we have talked about before but a little refreshed is always good pre-appointment. Thank you guys so much;

Ann, Nathan and the kids

 

[aussigal]

Hi Ann ,

Boy you have got me thinking again ...

Great topic by the way!

I personally have lots of the "markers" of BAVD (also led to me being suspected of Marfans). I was able to pick the kids of ours who had it when I thought about it properly.

I have the dodgy spine (full of arthritis, looks like an 80 yr olds' on x-rays) I have had a sore back for longer than I can remember. Hve always had trouble with my ears and have attatched earlobes not dangly ones.
Long thin arms bend over the 180 degrees at the elbows, I was called double-jointed as a kid and can still do most of the tricks,
a high arched palate and had lots of teeth extracted to make room.
I also have a few areas of my Aorta that are enlarged that werent fixed in my OP., the descending, thoracic & abdominal all have this.

Basically I just fit the BAVD symptoms Arlys has listed and I passed it on to the kids realy well which made it BAVD for us. If you think of it as a "connective Tissue Disease" its easy to see the problems you may or may not encounter.

I have had the blood vessel problems you mention as well. Now I fill-up on water before these things and it seems to fix it. I did go into A-fib when they inserted the Cannula for my blood transfusion though . I have always been a bit of a "fainter" as well.

My eyes are not as bad as others but they do take a long time to adjust now from short to long distance.

I am sure I have left stuff out that helped me get to this conclusion , apart from the Geneticist I saw cos I had already Diagnosed myself.. .


I had a murmur from birth which was eventually investigated by echo and it was clear I had a BAV. I then insisted on getting the boys scanned and it was also clear 2 out of 3 had a BAV & the accompanying murmur.
The 2 of us with murmurs have the true BAV with only 2 leaflets, the older son has the sort where 2 of his leaflets appear fused, he also has a slight coarctation. The youngest and myself developed the aneurysm in the ascending aorta. (mine was right where the valve joint the aorta).

I havent gotten around to investigating what side of the family this has come from still...you have given me a reminder to do so.

 

[Kate]

Hi Ann,
I believe I have BAVD, although no Dr. has ever said so. My symptoms are the bicuspid aorta, aortic aneurysm, very bad eyes, and extreme flexibility throughout my body. I also have some irregularities in the structure of my lower spine (last few vertabrae are fused) which you mentioned your husband has but I did not realize these were seen as a symptom of BAVD.

I learned about BAVD while doing research on my aortic aneurysm prior to surgery. My surgeon mentioned "possible underlying connective tissue disorder" as an aside, but didn't seem to see this as an important issue to discuss further. When I raised the topic myself and asked about the liklihood of my developing additional aneurysms, he just commented that I was "extremely well-read" but that I shouldn't worry about it.

The best site I've found describing BAVD (although they call it BAD) is at Cedar Sinai Hospital. I don't have the link but if you search under Bicuspid Aortic Disease it pops right up. Hope this is helpful! Kate

 

[Natanni]

I have not checked out the Cedar Sinai site yet, I will do that!

My biggest worry for my husband is a post op aneurysm. I want his cardio to discuss this with us in great detail, and I wonder if his job which requires lifting extreme weight (100 lbs many times a day) would be a contributing factor of developing an aneurysm. He has been offered another job in a completely different field, which would only involve desk work.

The one missing factor that I see is that there is NO flexabilty with Nathan or our daughter. She skates, and has to fight tooth and nail to stretch to the minimum expectations. Nathan has perfect vision also, our daughter is the only Myopic in our family.

Ton-Nathan had the "fused" bicuspid like your son. Do they feel there is much difference? Did they suggest medications for your boys yet?

Kate-I think it was the BAVD website that mentioned the spinal anomies seen in BAVD pts...

Thanks Ton and Kate. I do appreciate your input so much.

Ann

 

[Arlyss]

Knowledge of bicuspid aortic valve disease (BAV/BAVD/BAD) is still evolving. One thing that helps is that this is always defined as a condition that one is born with. It is not something that happens to the aortic valve later, due to some sort of damage (infection) or degeneration. It is also genetic, although as Dr. Isselbacher's presentation mentions, no single gene has been found and it will probably be found that multiple genes are involved. This is probably why there is so much variation between people - it depends on how many of the genes they have are affected.

Depending on the affected genes one has it could show in different places in the body. The life-threatening areas that we know about are those involving the heart valves and blood vessels. The aorta is beginning to get the attention it should have now.

But there is much less known about the blood vessels of the brain and neck. Dr. Wouter Schievink has published about BAVD/BAV/BAD and the vessels of the head and neck. Those papers were published at the time he was at Mayo. We have made sure that familiy members have also been checked for brain aneurysms. When my husband first had his stroke, one of the things that was ruled out was possible dissection of his carotid arteries, with the debris going to the brain. (We later found that the debris came from strands on his prosthetic valve, as I have mentioned on other threads.) There are links to Dr. Schievink and his papers here http://www.bicuspidfoundation.com/Medical_Information.html

Best wishes,
Arlyss

 

[Andrew'sMom]

I read this with interest as my son who has BAV & dilation of the aortic root and ascending aorta is also EXTREMELY flexible. I never knew of the connection, even with all the research I have been doing online lately. He has no vision problems as far as I can tell; he was just screened during kindergarten registration. However, as a newborn he had a series of lower-back X-rays done because he has a very large hemangioma (sp?) that covered the entire base of his spine as a newborn. The docs were concerned that it was an indication of an internal spinal lesion, which was not found, but I wonder if there is any vertabrae fusion...? I would guess not as SURELY the doc would have told me ... I will have to talk with the doc about this at his next appt. Each time he has seen a new cardio, they have remarked on his hemangioma, which is the same size as it was at birth, but now appears smaller as his body is growing and it does not cover the entire width of his back. Even the dr at CCF spent a good time looking at it and writing in his notes, but told me that it was interesting but not related to his heart at all.

 

[francie12]

A very interesting topic for all of us BAV people...thanks for starting it!

Matt has, in addition to the BAV and dilated aorta, strong near-sightedness, a right shoulderblade carried higher than the other, the small close ears, the long limbs. After a look by the peds geneticist, he was pronounced not to have Marfan's and was not clearly diagnosed with any kind of connective tissue disease. I can see, with multiple genes being involved, that it is a very complex business to diagnose. (Thanks for the explanation, Arlyss!) Alot of people have the above characteristics without the heart related problems. I assume a definate diagnosis is made when the significant characteristics exceed a certain number and the situation becomes obvious!

The geneticist's concern, in Matt's case, was more for TAA syndrome--thoracic aortic aneurysm syndrome. For that reason she scheduled an MRI of the entire aorta, top to bottom (this happens in four weeks--I'm nervous!).

It seems the whole area of BAVD is just beginning to be understood--in the nick of time for our patients! I hope this topic will stay lively here at vr.com as time passes. I know I'll be tuning in!!

 

[Arlyss]

Terminology

Terminology

The words used to describe conditions involving the aorta can be confusing - often it is a reflection of the complexity and overlap of all of this.

Here is a link to a set of definitions from Mass General

http://www.mgh.harvard.edu/tac/patients/glossary.htm

Strictly speaking, when the term "bicuspid aortic valve" is used, it is just describing an aortic valve with two leaflets. It is talking only about the valve. But a term is needed to describe the bigger picture of the body, and to alert everyone that there can be much more to the story when a bicuspid aortic valve is detected - so the terms bicuspid aortic disease and bicuspid aortic valve disease have come into being.

I was interested to see Frankie12's experience, where the geneticist seems focused on "familial thoracic aortic syndrome" rather than BAVD. You will note the definition at the link above for that is simply more than one person in the same family with a genetically based aortic enlargement. This term seems to have come from the discovery of families with no characteristics that can be identified at all - yet they lose family members to aortic rupture or dissection in the chest.

To make things more complicated, there are people with some markers in their body - for example some of the things found in Marfan syndrome - but they do not have all of them, so technically they do not have Marfan syndrome. Sometimes they have been called "Marfan like" - there is no name for them, but they clearly have something....

Having BAVD is a very good reason to have the entire aorta imaged. Although it appears that BAVD usually affects the ascending aorta, I met someone recently with BAVD whose first problem was a dissection of their descending aorta. I would always want my own entire aorta imaged if I had a bicuspid aortic valve or was related to someone with a bicuspid aortic valve.

So generally, there is thoracic aortic aneurysm and dissection (TAAD) - the aorta bulges or tears for some reason. There are groups that have been identified as having a congenital condition associated with TAAD (BAVD, Turner's syndrome, Marfan syndrome, Ehlers-Danlos syndrome, and familial thoraic aortic aneurysm syndrome). There is another whole area of people who may experience TAAD because of some disease process they develop - chronic high blood pressure, infection, etc. Crack cocaine raises the blood pressure high enough to send individuals to the ER with a torn aorta also.

Of all these groups, those with a bicuspid valve are a very large one that has not been well understood. At one time, I thought my husband must be the only one in the world..... little did I know then that we would not have to look far to find someone else with it - we eventually have found it in others in his family.

Best wishes,
Arlyss

 

[aussigal]

My surgeon and Cardio are watching me for my whole life in regard to the other aortic dialatations/aneurysms developing to a size where they would need intervention.
I actually thought that was the usual treatment suggested for those d'xd with the Connective Tissue form of BAV. I am like you Arlys, I wanted the whole lot checked out. You do end up with a collection of very cool scans and it is comforting to know you have had the whole system scanned. I even insisted on a brain scan.

Another commonalitly the 3 of us (the 2 kids and myself have) is that we were all "reflux" babies . I also forgot to mention I have mild Scoliosis which I remember seeing mentioned somewhere before too. Oh yeah...and I got stretch-marks even before I was pregnant yet I am not fat and never have been.

I dont know if its significant as to what "type" of BAV you have , either fused or true but I did find it fascinating that 2 of us have the true type and Matts' whose is fused doesnt have the added bonus of a dialated ascending aorta and yet he does have a coarctation. I think it would be an interesting thing to keep track of.

So far the boys have no restrictions nor are they on any medications although their nervous mum would like them on a tiny dose of Beta-Blocker as in some studies it has been said to delay the progress. They also both have the labile hypertension which is of a concern to me but not their Specialist.

 

[chrisgreen500]

This is a fascinating thread. I have been told I 'probably' have a congenital bicuspid aortic valve. I never realised it was implicated with other conditions however. I have very good eyesight, and am not very flexible.

However I certainly have the back issues. Scoliosis, and Khyphosis from Scheuermanns Disease. Chronic lower and upper back pain.

I am fascinated to find out more about this, and think I should probably get my children checked too.

 

[carista]

I was born with a bicuspid aortic valve and also had an ascending aortic aneurysm. My cardio never mentioned being diagnosed with actual BAVD, but he did put restrictions on me as far as weight lifting saying that he wants to prevent possible aneurysms on other areas of my aorta that had not been repaired. He actually told me he would prefer me to not weight lift at all, but that it was ok if I did as long as I didn't lift more than 10lbs and did higher reps. On my last appt. at Mayo about a month or so ago, he had me do a CT scan to make sure there wasn't any other aneurysms forming elsewhere.

I don't believe I have any of the other signs of BAVD. I have 20/20 vision, not that flexible, and no back problems that I'm aware of. I also don't know of anyone on either side of my family that has had a BAV or BAVD--guess I just got lucky.

Carista

 

[chrisgreen500]

I have read the Cedar-Sinai page, and it appears to say that a bicuspid aortic valve alone means it is regarded as Bicuspid Aortic Disease.

It also states:
"Since predicting who may be affected is not possible, monitoring all family members is important, including parents, children, brothers and sisters, as well as extended family members, such as nephews, nieces and grandchildren."

This strikes me as extremely important, as I get the impression there is a fair chance that other people within my family may have the condition.

Can I ask, has anyone had such a service offered as standard, or suggested to them. Or has anyone insisted on it?

Regards
Chris

 

[aussigal]

YES Chris ,...

I insisted on having the kids checked out . The Cardio I went to for a second opinion also referred our sons off to the Paediatric Cardio for monitoring. As you can see 2 of them got the lucky BAV gene and one didnt .

My Fathers' family have a long history of heart related early deaths, my dad died at 38 very suddenly and quickly. Unfortunatey none were autopsied and their deaths were over 30 years ago.

 

[chrisgreen500]

Thanks Aussiegal,

I am going to the doctor tomorrow, and one of the issues I have is with the poor service I am receiving from the NHS regarding my condition.

My wife also brought up the issue with her doctor, but he told her the NHS doesn't do this as a matter of course. I can see I am going to need to insist.

On another subject, my wife and I have been discussing coming to live in Perth, as I have relations there who are willing to sponsor me. I'd be interested to hear what you have to say about the place.

Regards
Chris

 

[francie12]

Screening relatives

Screening relatives

Our US insurance company will not pay for screening echos for my younger son and husband if a murmer cannot be heard... However, if Matt's dilated aorta is seen to be significantly progressing at his upcoming MRA, then the geneticist will order echos for first degree relatives to rule out familial aortic aneurysm syndrome... All this does not make complete sense to me as it seems the issue is more the BAV with its accompanied greater risk of dissecting aneurysms, and stress to the heart as it compensates for a poorly functioning valve. Matt's drs. did not hear a murmer until his left ventricle had become significantly enlarged. And even with a BAV in decent working order, I'm pretty sure you should still be premedicating before dental appoints., etc.

I'm mentioning this to all concerned because I think you have to work to convince most cardiologists to order family screenings. In our case I'm coming armed to the next appointment with materials printed out from the Bicuspid Aortic Foundation website and elsewhere and a (politely) aggressive attitude! If all else fails you can actually pay for the whole thing yourself, as some people do. But with two echos to pay for and limited circumstances we really hope to get the insurance company on board.

Best of luck to everyone who is dealing with this--I think there are some companies that cover it as a matter of course.

 

[Natanni]

Nathan's cardio at the Mayo asked us specifically if our kids had murmurs (we didn't think so at the time) and if they did, they needed echos, considering Nathan and his Dad's history. No one else on his side of the family is the least concerned about having their kids screened. Nathan's Dad was adopted so we have zero family history after him. The thing is, no one ever heard our daughter Kim's echo until I made appt with pediatrian to screen for a murmur. I was so upset (this was just 2 wks before Nathan's surgery) that I was actually not wanting to get my daughter echoed, worried that she would be "labeled" by insurance companies for the rest of her life at best, or worse to find something dreadfully wrong (hey, they missed the murmur, what else?). Our insurance company gave the green light for Kim's work up, and I am bring the 15 yr old son with to have a listen with Nathan's Mayo doc....just incase (will be in his 10th yr of hockey this year). I am printing info off left and right about BAVD, and I am hoping for some serious answers.

 

[chrisgreen500]

I have spoken with my GP this morning about this, and I intend to take it up with my cardiologist at my next meeting. I will in the meantime be arming myself also (with information, and weapons if necessary ).

It seems to me it would be a good idea to ask BAVers generally on the forum if they have had their children checked, and those that have what the results were. This could be useful for ammunition. I think I will contact Ross to set up one of those polls.

Do you think you would find this useful?

Chris

 

[francie12]

I'd love to see a poll on this subject! It seems like BAVers are a big subset of the vr.com community--and we all have relatives! Anything on BAVD is of great interest to us, for obvious reasons, but even from a "outsider's" point of view BAVD is really breaking new scientific ground. The more understanding we all have, the better for everybody!

 

[Andrew'sMom]

YES!! I think this info would be very useful!! I don't know if it's the docs or the insurance companies (OR BOTH!) who are being so stubborn about not wanting a murmur-less child to have an echo, despite a family history of heart defects! Our pediatrician just handed us off to Andrew's cardio when we asked about having our oldest son screened. Told us to talk with him about it.

 

[aussigal]

Just cos you dont have a murmur doesnt mean you dont have a BAV...
There are a few reasons that you may not have a murmur...
Mine apparently dissappeared for 35 years and one of my BAV sons doesnt have one either but he does have a "click"

There is a site that has some great info on all the noises our hearts make, only wish I could remember where it was .

Now lets get this BAV poll happeneing...who wants to start it?