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lizzyc1974

Hi,

Sorry this is long, but it seems like everything is getting more and more complicated. My name is Liz. I am mom to Owen and wife to Jason. A bit of background: My 2 year old son Owen was diagnosed with BAV and a tiny foramen ovale after reading he should be screened for heart issues after a diagnosis of Radial Ulnar Synostosis and Chiari Malformation. He does have a murmur, picked up by the cardiologist but not our ped. We subsequently had my husband tested since the RUS was known to come from his family. He is 30, and also was found to have Chiari, slight radial bone issues and a murmur which led to echo and diagnosis of BAV. Mother in law was screened and also found to have Chiari and aortic insufficiency. No mention of BAV for her, but I wonder. She has a kidney cyst as well. We see a geneticist and so far have no answers as to a syndrome, but we do know it is being passed autosomal dominant. I am very interested in finding out more about what is happening and the genetics of it all. My husband was also diagnosed as having “exercise induced asthma” as a teen, and still gets short of breath if he exercises intensively. Not sure if this is asthma or possibly from his newly diagnosed heart issue?

For the BAV: For my son we were told to come back in 2-2.5 years. My husband had an echo a year ago and is due for follow up. This time we want to be sure of what to ask about. Neither my son nor husband had any restrictions placed or were recommended to receive antibiotic prophylaxis. Is this normal? In both cases we were told some people never need their valves replaced or do so only when much older (in their 70’s). I felt like we were told, don’t worry about it. I know from experience that it is best to be as informed as possible. I had been too overwhelmed with my son’s other issues to take a good look at what a BAV means and what we need to be aware of for both of them. I feel like I have a good handle on the other issues and am ready to deal with this.

Should we request a CT/MRI?
Any important questions?
It seems most people know their valve circumference. Where can I find that on the echo results? Seems like it is usually cm2?
What numbers on the echo should we be watching?
Is BAV disease the same as just having a bicuspid valve?
The doctor never even mentioned the mitral valve. On the report it looks like this may be an issue?
Any insight as to my husband’s echo results?

From my husband’s prior echo results:
M-Mode Measurements (cm)
LVEDd-4.34 cm
IVSEd-0.931 cm
LVPWd-1 cm
AO Root Dimension-3.31 cm
FS-26.5%
LVESd-3.19 cm
LA-2.38 cm
EF calculated- 52.29%

Findings:
The left ventricle is normal in size, wall thickeness, wall motion, and contractility. EF=50%
Normal right ventricle structure and function.
Normal left atrium
Normal right atrium
The aortic valve is sclerotic. Mild aortic regurgitation is present.
The mitral valve leaflets appear thickened and/or calcified. Mitral valve prolapse can not be excluded. Trace mitral regurgitation is present.
Trace pulmonic valvular regurgitation is present.
Trace/Mild tricuspid regurgitation is present.
Aorta and IVC were found to be normal.
No evidence of pericardial effusion.
Negative bubble study.

Thanks so much for any information or help you can give us!
Liz
(and Jason, Owen)
 
Hi, Liz, and welcome.

I was unaware I had a murmur until 2001 when it was first heard. The subsequent echo showed that my aortic valve was sclerotic. The valve continued to deteriorate until 2005 when it was replaced. You say that the echo shows your husband's aortic valve is sclerotic. On future echos, you will want to watch for the amount of calcification build up and the size of the aortic valve opening. I don't know much about mitral valves, but if the leaflets are thickened and calcified, it seems likely that there will be issues with the mitral valve. Perhaps more so than the aortic, but I don't know.

Our son and grandson both have bicuspid aortic valves. Our grandson, 10 months old, is being followed by a pediatric cardiologist. I was with him at the last appointment, and for now they are just taking a wait and see approach. I am comfortable with that.

I don't doubt that you find this all a bit overwhelming. It's hard enough when it's happening to you, but much harder, I think, when it's happening to multiple family members. I try to not fret too much since I've learned there's alot of fretting to come for those diagnosed with BAVD. If you haven't seen this link, you might want to check it out.
http://www.bicuspidfoundation.com
The bicupid valve forum contains great information, and you can ask members for their experiences.
Once again, welcome.
 
Just a quick summary of my story:

My bicuspid valve was first diagnosed when I was five years old. That was fifty-one years ago.

I had my first catherization when I was 15. It was a somewhat torturous procedure back in those days (1968) that required two days in the hospital. Didn't have another cath until the day before my surgery 32 years later.

I was given no restrictions growing up. I had annual EKGs and was told I would probably need a valve replacement when I was "much older", like in my 40's!

True to the predictions, I started developing symptoms at age 47 and had my surgery in December of 2000.

The diagnostic technology has advanced so much these days that they almost throw too much information at you - it's a lot of stuff to study and understand.

No disrepect to any feedback your may get here, but my first and best advice would be to take your list of questions and sit down with your cardiologist to review them.

Good luck,
Mark
 
MarkU said:
No disrepect to any feedback your may get here, but my first and best advice would be to take your list of questions and sit down with your cardiologist to review them.
Click to expand...

Hi Mark,

I am preparing a list of questions and do plan on asking the cardiologist about them, but I also find it helpful to get information on what others who have been there have found important and to try and have a good understanding of what I need to know or question the doctor about. If you are not familiar with the problem it is so difficult to know what the right questions to ask are.

I also happen to be one of those people who can't really rest until I feel really knowledgeable and comfortable with a problem inside and out, which is a blessing and a curse. I have been the one who has had to push for tests, information, and diagnosis when the doctors looked at me like I was crazy, or at the very least a real pain. But, we never would have even found out about the heart issues otherwise or even about my husband having Chiari. I just want to get as much information as possible before the appointment.

Thanks for your help!
Liz
 
Liz, first of all welcome - sorry in one way you had to findus, but glad that you did in another!

As for a pre-med before dental work etc., the guidelines changed recently on that, and the pactice of having people with valve disease take it has been falling away, and just about the time I got my mechanical one, which does need pre-meds, both in the old way of doing things and the new one! Someone will be along who will know more than I do!

There is also a site for congenital heart disorders, you may find it by either googling, or it may be posted in one of the stickies at the top of one of the forums.

OK, I have (sorry had) a BAV that was replaced 2 years ago, at age 52. I had known about my heart murmur since 1985; BAV are congenital, and they do tend to run in families - in fact, when it was disovered that mine was bicuspid, my brother went and got himself checked, too.

Now, I know nothing of Chiari syndrome or Radial Ulnar Synostosis, so I am thinking that is something that has not been spoken of on the forum in 2 years, at least. It may be helpful to some of us if you could give the 30-second explanation for these.

I was never aware of the circumference of my aortic opening, and I am usually the first to ask that kind of question - I like to know exactly what is going on! but I trusted my cardio and had not yet found this site.

BAV disease, I believe, usually refers to Marfan's syndrome, but hop on over to the BAV site and get the real scoop there - I don't seem to have it, so I skipped all that part !

Anyway, take care of all of you, and keep us posted. We worryif we don't hear back from you. And take that list of questions to the cardio, and don't leave until you have answeres that you are happy with!
 
Hi, Liz,
I'm another of those who apparently have congenital bicuspid valves that were not discovered until well into adult life. In my case, it was not discovered until a routine physical when I was about 55, when the doctor asked "How long have you had that murmur?" Surprise, surprise! I'm now almost 62, still work 50-60 hours/week and still jog about 4 miles/day. The old valve is still with me. Some time we'll have to replace it, but for now we're just watching and waiting. In my case we believe that the valve must be replaced, but we're just waiting for the right time.

In the meantime, welcome to The Waiting Room -- the virtual room where many of us await our own turns at valve surgery.
 
netmiff said:
OK, I have (sorry had) a BAV that was replaced 2 years ago, at age 52. I had known about my heart murmur since 1985; BAV are congenital, and they do tend to run in families - in fact, when it was disovered that mine was bicuspid, my brother went and got himself checked, too.

Now, I know nothing of Chiari syndrome or Radial Ulnar Synostosis, so I am thinking that is something that has not been spoken of on the forum in 2 years, at least. It may be helpful to some of us if you could give the 30-second explanation for these.
Click to expand...

Well, my son was first diagnosed with Chiari Malformation after a series of bad falls and possible balance issues at 18 months. He has an MRI to look for causes and found Chiari. Basically, there is a place in the base of your skull called the foramen magnum. It leads to the spinal column, and cerebral spinal fluid flows through. With Chiari Malformation that area is too small, forcing your cerebellar tonsils (part of your brain) to be crowded and pushed down into that space,putting pressure and blocking the free flow of CSF. You can have bad symptoms or be totally symptom free. Symptoms are from the pressure on tonsils and blockage of CSF. Again, it is a watch and wait thing. When symptoms become unmanageable you operate to remove a piece of bone, opening up the space.

Radial Ulnar Synostosis is a congenital condition in which the radius and ulna bones in your arms are fused together where they should be separate. This causes a lack of forearm rotation. My son can not put his hands in a palms up position. They permanently are stuck in palms down.

I have spent so much time working with genetics and looking for a link between all these problems- aortic issues, arm bone issues, and Chiari malformation. Reading more about bicuspid aortic valve last night has finally just made a connection jump out at me! It is the connective tissue disorder issue. Research is showing BAV is being found to often be a part of some underlying connective tissue disorder. New research has also shown Chiari to be associated with some hereditary connective tissue disorders such as Ehlers-Danlos syndrome and Marfan syndrome (neither of which they appear to have). Other bone differences are also connected with connective tissue disorders. Nobody we have seen yet has put this all together, but most of this research is new, and specialized to each problem. I am thinking that is the potential link, some unknown connective tissue disorder. I am going to bring all this up to the cardiologist and geneticist since it appears that if you have a connective tissue disorder you need to follow BAV more closely, since there is greater risk of an aortic aneurysm. Anymore information on BAV and connected tissue disorder issues is appreciated!
 
Welcome Lizzy -

It's good that your husband was tested.
It sounds like he is in the "Wait and Watch" mode.
FYI, BAV = Bicuspid Aortic Valve
which is often associated with Connective Tissue Disorders as you have discovered.

Re: "Valve Circumference"
The usual measurement is called the Effective Valve Area (EVA) and is expressed in square cm = cm sq or cm^2.
The 'common trigger' for recommending Aortic Valve Replacement is when the EVA of the Aortic Valve is 0.8 cm^2 or less.

At this point, I would think that annual EchoCardiograms would be sufficient to track your husband. Sooner if his symptoms become more pronounced, especially shortness of breath on exertion.

There are some references on reading / interpreting EchoCardiogram Reports in the Reference Section Forum

'AL Capshaw'
 
Liz:

I'm impressed with how you've immersed yourself into learning about these conditions.
I have a couple of questions.
1. You mention that your MIL has a cyst in the kidney. Does she have PKD (polycystic kidney disease)?
2. Since you mention autosomal dominant, have you put together a medical family tree, listing known diseases, disorders, causes of death, etc.?

Not everyone has medical histories of their extended family.

I have a cat pedigree software program in which I can, in addition to other information, input causes of death, any known carrier info, results of echoes for HCM, test results for erythrocyte PK disease, etc. Comes in very handy. You just input information about one cat. Then another cat. Eventually it all links together when you start entering names of sires and dams, and it builds a 3- or more generation pedigree that you can print out.

I'm sure there are similar software programs for human genealogy research.
 
catwoman said:
Liz:

I'm impressed with how you've immersed yourself into learning about these conditions.
I have a couple of questions.
1. You mention that your MIL has a cyst in the kidney. Does she have PKD (polycystic kidney disease)?
2. Since you mention autosomal dominant, have you put together a medical family tree, listing known diseases, disorders, causes of death, etc.?

N
Click to expand...

My MIL was just diagnosed with a kidney cyst, as far as I know. I need to find out more. I had forgotten about any possible issues and only thought of it after she brought it up. I did just see today on the Bicuspid Foundation site (which is great!) that kidney cysts can be a related problem, as can myopeia- which my husband has. Owen had a renal CT and is fine.

As for my family medical history, we can't really get too far back regarding these issues. Only to my husband's grandmother. After Owen was found to have RUS, it came out that my husbands grandma also had it. It was never officially diagnosed since she lived in rural France. Since she had that, she likely had at least some of the other issues such as Chiari or valve problems. She died from cancer fairly young, so it wasn't the heart that killed her. On her side they all lived in a rural french village, so not much more information.
So far we know the problem(s) exists in:
Great Grandma (deceased)
MIL
Jason (my husband) Unknown: James (Jason's brother with no insurance. Has had no testing yet)
Owen (our son- almost 3)

Another question: I have seen on multiple sites that BAV is caused by a connective tissue disorder. Does having a BAV equal a connective tissue disorder, or is it that BAV can be a part of a larger connective tissue disorder (but not necessarily)? Is there a difference between having a BAV and having the Bicuspid Aortic Valve Disease? I don't really understand this.

From Cleveland Clinic:

In bicuspid aortic valve disease (BAVD), the valve has only two leaflets. With this deformity, the valve doesn’t function perfectly, but it may function adequately for years without causing symptoms or obvious signs of a problem.

The latest studies suggest that bicuspid aortic valve disease is caused by a connective tissue disorder that also causes other circulatory system problems. People with bicuspid aortic valve disease also may have abnormal coronary arteries, aortic aneurysm or an abnormal thoracic aorta (the portion of the aorta that passes through the upper chest) and unstable (labile) high blood pressure."
 
lizzyc1974 said:
From Cleveland Clinic:

In bicuspid aortic valve disease (BAVD), the valve has only two leaflets. With this deformity, the valve doesn’t function perfectly, but it may function adequately for years without causing symptoms or obvious signs of a problem.
Click to expand...

Hi Liz and welcome. I included your info because I had a bicuspid aortic valve and it functioned until I was 55 years old. Course it was going downhill, but I attributed my SOB and general tiredness to getting older..:rolleyes:
 
Liz, I can't help alot with your question, but I was wonderring if you belong to any Chiari groups? I know from my groups for parents with congenital heart defects (CHD)that there are a few syndromes that certain heart defects are common in (like downs or digeorge syndrome) and since BAVD is relatively common (2% of the pop have BAV) compared to your son and husbands other dxs and most of the people that have BAV don't have other major congenital issues, I was wondering if oou know of groups for chiari or the ulnar and if certain CHDs are more common with either of those.
 
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