Confused??

[shellyb]

My husband had his bicupsid aortic valve replaced at CC Oct. 07. We were told that our two adult sons should have an echo done to make sure they did not have bicuspid valves. We live in a smaller town (25,000 population). Both of our sons have gone to have echos and both have been told that a bicuspid valve is not heriditary. I have done some research and have read that it can be hereditary why are we getting the go-around. Both of our sons 29 and 32 already have high blood pressure and we just wanted to make sure that it's not something more than just their blood pressure. Why would it be questioned here that they shouldn't have their aortic valves checked out?

Thanks!
shellyb

 

[Magic8Ball]

They need to get checked out, push the doctor in question and show him your findings.

Bicuspid's run in the family so to speak....your sons may not have it, their kids may not get them but their childrens children could get one...totally random.

If that makes sense...if your son's are clear it's not necessarily the end of the story.

Regards.

 

[witzkeyman]

it's a CONGENITAL birth defect. not exactly sure what CONGENITAL means, but my surgeon explained to me that genetic and CONGENITAL mean different things.

 

[Lynlw]

it's a CONGENITAL birth defect. not exactly sure what CONGENITAL means, but my surgeon explained to me that genetic and CONGENITAL mean different things.

Congenital means you were born with it. If it is something that occurs after birth it it called aquired

 

[Susan BAV]

it's a CONGENITAL birth defect. not exactly sure what CONGENITAL means, but my surgeon explained to me that genetic and CONGENITAL mean different things.

From genetic, it's carried within the genes. People can be born with congenital defects that weren't necessarily in their genes. Consider the babies born to women who took thalydamide (sp?) while pregnant in the fifties/sixties--a med that evidently can be beneficial for patients with multiple myeloma (sp?) now.

There is still much more to be learned about bicuspid issues. None of my extended family have or had any known bicuspids but there are some other valve issues among some in the family. Interestingly, most of the family have excellent plumbing; it's just the pump (the heart) and the valves that develops issues for some of us.

 

[francie12]

http://content.onlinejacc.org/cgi/content/full/44/1/138

This link takes you to a published paper entitled "Bicuspid Valves are Heritable." Others will chime in I'm sure, but in the case of our family a screening done because of our older son (see signature below) revealed dilated aortas in both my husband and younger son. It seems that you don't even have to have inherited the actual bicuspid valve to have gotten some manifestations. Dilated aortas and bicuspid valves are both, and sometimes independent, results of the same defective gene. In our experience, some doctors are aware of the genetics of bicuspid valves and some are not. We are going with the ones who are!

 

[aussigal]

The eldest and youngest of our 3 sons (and myself) have a BAV...We seem to have inherited this through my Dads side of the family...they all had a premature death due to heart troubles and aneurysms.

Dont take NO for an answer. Keep asking for the boys to be scanned until it gets done. I recall that if you have one BAV child your chances of another are much higher.

 

[Elcarim]

The sonographer had a good look at my younger son's aortic valve during the 18week anatomical scan when I was pregnant. Much to my relief it looked fine.

I had fused leaflets rather than two leaflets instead of three. Possibly if they had found it earlier, before the valve started to deteriorate, it could have been repaired. This might be acquired/inherited differently - I was asked if I had ever had rheumatic fever. There is no history of heart trouble in either side of my family.

 

[Philip B]

Cases Vary

Cases Vary

As noted in previous posts, congenital does not necessarily mean it's inherited or carried in genes. For example, I'm the only one in several generations of my family to be "blessed" with defective aortic valve. Mine falls into the catagory of a birth defect and my heart murmur was noticed when I was born. This said, I'm sure there are numerous cases where heart defect issues are genetic.

It's worth having your kids checked. There's nothing to be lost, and much to be gained by having other family members checked.

-Philip

 

[MrP]

Heritability studies indicate that BAV determination is almost entirely genetic.

See the medical information section of this website.

www.bicuspidfoundation.com

 

[Lisa in Katy]

Some things are passed down on a gene, and the parents may or may not actually have it - muscular dystrophy and blue eyes, for example. These things are considered hereditary or genetic. Other things seem to run in families, but doctors don't call them hereditary. For instance, in my family, rheumatic fever has appeared more than normal. Doctors say that it probably has something to do with our immune system, but there hasn't been enough research to actually call it genetic or hereditary. My brother had a BAV, and as far as I know, he is the only one in our family. However, since both my grandfathers died of heart problems at fairly young ages (in their 50's), and didn't have autopsies, it's possible that they had undiagnosed BAV.

It wouldn't hurt anything to do an echo, and would either lead to peace of mind if they don't have it, or watchfulness if they do. Your sons should push it.

 

[MaryC]

Shelly,
When I started on my heart valve adventure (Mitral Valve Prolapse) 14+ years ago I made it a point to tell my cardiologist about my sister having just had a mitral valve replacement. He told me what you were told - not hereditary. Then later, on one of my many annual checkups I made it a point to tell my cardio that my 47 yr old brother had died suddenly from what we suspected was also mitral valve prolapse, again he didn't place much emphasis on it. By the time I went to him the last time before I had surgery and told him about another brother who had to have his mitral valve replaced, he still didn't understand why I was so concerned. By this time my family of 10 kids was up to 7-10 of us diagnosed with MVP. Well.....you get the picture. We have to take control of our own healthcare. After my mitral valve repair last February I took my 13 & 11 yr olds for echos and was relieved to find out they didn't show signs of my family heart condition....although it was recommended they get echos again once they are young adults.

 

[witzkeyman]

Congenital means you were born with it. If it is something that occurs after birth it it called aquired

thanks,
My birth mom was a troubled woman and took uppers whie she was pregnant with me. I was given up for adoption, but the fact that she took uppers while she was pregnant with me makes me believe that my bicuspid valve originated from that point.

 

[Bad Mad]

Check out this thread from a few months back:

http://www.valvereplacement.com/for...ight=genetic+information+family+screening+BAV

Here's a summary:

If anyone has difficulty justifying screening and ongoing monitoring of ALL family members, including insurance authorizations, this paper provides justification for doing it. (Other papers have reported also, but the key points are all covered in this one paper.)

It describes 13 families that were selected for study because one member had a BAV and TAA (Thoracic Aortic Aneurysm).

Since this is a genetically based study, it also found that it may be carried and passed on by someone not obviously affected themself.

Here is the link to this paper

http://www.ncbi.nlm.nih.gov/sites/en...ubmed_RVDocSum

In all 13 families, one or more people had TAA without an obvious BAV.

In 11 out of 13 families, the greatest enlargement was in the ascending aorta ("above the sinotubular junction"). This is a hallmark of BAVD versus other syndromes - and can be dangerous in terms of missing the aneurysm when echo is used to screen. The ascending aorta (not the "root") is where the greatest danger lurks for BAVD.

They state that "BAV and TAA are independent manifestations of a single gene defect".

Also quoting from the abstract:
"To avoid the risk of early death, it is essential that all first-degree relatives receive echocardiographic follow-up at regular intervals regardless of the presence or absence of a BAV. This assessment must include imaging of the aortic region above the STJ."

Once a BAV is found, every family member becomes suspect. They may or may not have an obviously defective valve, but the aneurysm may be there, in the ascending aorta. If an echo does not "look" high enough, above the root, and "see" the ascending aorta, the enlargement/aneurysm will be missed

 

[aussiemember]

Shelly,
When I started on my heart valve adventure (Mitral Valve Prolapse) 14+ years ago I made it a point to tell my cardiologist about my sister having just had a mitral valve replacement. He told me what you were told - not hereditary. Then later, on one of my many annual checkups I made it a point to tell my cardio that my 47 yr old brother had died suddenly from what we suspected was also mitral valve prolapse, again he didn't place much emphasis on it. By the time I went to him the last time before I had surgery and told him about another brother who had to have his mitral valve replaced, he still didn't understand why I was so concerned. By this time my family of 10 kids was up to 7-10 of us diagnosed with MVP. Well.....you get the picture. We have to take control of our own healthcare. After my mitral valve repair last February I took my 13 & 11 yr olds for echos and was relieved to find out they didn't show signs of my family heart condition....although it was recommended they get echos again once they are young adults.

Mary, it's interesting you should say this about MVP as in Victoria I have the opposite experience - every time I go for medical check ups they tell me it is genetic and ask who else in my family has it. In my case I know my mother and father both had echos and didn't have it and my brothers are also clear......My daughter hasn't had an echo but my murmur was clearly heard from when I was 13 and at 16 the GP can't hear anything on her even from all the different positions. I will get her checked out properly when she is an adult however.

 

[Cooker]

Dad's mom had one....Dad had one.....I had one.....Coincidence? I think not

 

[aussigal]

I had fused leaflets rather than two leaflets instead of three.

This might be acquired/inherited differently

I personally think its all from the same fault with the Fibrilin...I have/had the true 2 leaflet BAV as does one of my sons, the other one has the fused 3 leaflet type....

I have read more than once that Indian (the country) doctors are very good at hearing murmurs....it was an Indian lady who heard mine again after it hadnt been heard since I was an infant.

 

[harleygirl528]

Just wanted to add one word of caution...I was diagnosed with aortic regurgitation about 7 years ago. I was not told I had a bicuspid valve, however, and was told it was minor and something that would eventually lead to the need for a valve replacement but not for 20 years or so. I was told to have an echo every 2 years and I did so faithfully. My last echo before my aneurysm was diagnosed was in april, just 6 months prior to the MRI that discovered a 4.9 cm aneurysm. As you all know, aneurysms don't grow overnight and never once was I told after any of my echos that I had a suspiciously large ascending aorta! The point being, echos are really not the best diagnostic tool when it comes to aneurysms. I do agree with Bad Mad who points out that if the sonographer does not look high enough about the aortic root to visualize the ascending aorta the aneurysm/enlargement will be missed, as it was with me. Please pay careful attention to this warning as I am living proof that echos can, and often do miss ascending aortic aneurysms. Remember, there is a reason aortic aneurysms are called "the silent killer", because they often have no symptoms whatsoever so screening our children and other first generation family members is imperative...it may be their only chance to be saved from an untimely, sudden death. I am taking my children in as soon as I am able to drive and have informed my siblings and parents as well. Be persistent....it can be a matter of life or death.

P.S. Keep in mind that not all murmurs are audible...mine has never been audible to most physicians and although it can be helpful obviously just because a murmur isn't detected audibly doesn't mean you don't have a problem.

 

[shellyb]

Thanks everyone....this has turned into an interesting discussion. My sons both had physicals which included echoes and have both been told that things look okay but have been told to come back in three years for another echo. My youngest is being treated for hypertension (which in itself makes me glad they went to the doctor). My oldest's blood pressure was borderline and is being watched. They are only 29 and 32....too young to have high and elevated blood pressure.

Thanks!
shellyb

 

[shellyb]

It sounds as though our family doctor has been doing some research. He wants both sons to have an echo done every 3 years. My husband has 6 brothers and sisters and the majority have developed high blood pressure early in life.

I appreciate all the advice.

Thanks!
shellyb