BAV Genetics

[RWS]

While trying to satisfy my curious nature I have hit a dead end. I?m usually highly successful in searching the net but not this time. I am trying to find out the genetic pipe line that leads to bicuspid aortic valve. Inherited genetics is complicated with words like recessive, dominant, carrier etc?Besides 1-2% BAV in general population, 2 to 1 male dominate, I trying to find out if it skips generations, etc??All I can find is the following: ?Inheritance: Although bicuspid aortic valve is generally sporadic, familial clusters have been identified, with incidence as high as 10-17% in first-degree relatives of probands.? I am just curious about the odds of passing on BAV genetically speaking.

 

[Arlyss]

Regarding BAV Genetics

Regarding BAV Genetics

Hi,

It is unfortunately true that while BAV is the most common congenital heart condition, there is much that is generally not well understood, including the genetic aspects. Like many genetically-based conditions, there is tremendous variation in how this affects individuals and families.

Here is a link to some genetic information. http://genetics.faseb.org/genetics/ashg02s/f239.htm
One key point here is that the ascending aorta should be monitored in family members, even if the aortic valve appears normal.

Here are two links, all part of the same series of web pages regarding aortic disease.

http://www.cedars-sinai.edu/aorta
http://www.cedars-sinai.edu/bicuspid

While today we do not have enough information to predict the incidence or severity of bicuspid aortic disease, we do have the diagnostic tools to monitor and detect it, and the medical and surgical ability to care for those who have it.

Take care,
Arlyss

 

[LoriSue]

Genetics

Genetics

Hi there. I may be able to help you with some info. I was just looking at a study two days ago that identified gene #15 with a link to bicuspid aortic valve. As for skipping generations....I will go back and look it up again. I believe I read that it does possibly skip but.......if that is the case, it didn't skip any females in my family. I have BAV, my mother had BAV, her mother (my grandmother) had BAV, grandma's sister (my great aunt) had BAV and my great grandmother died in 1923 (after the birth of her 5th child) of symptoms that sounded suspiciously close to BAV. I have no information for the generations before that but needless to say, it was found in EVERY woman in my mother's line.
I will go back and locate the study I was looking at two days ago and get back to you within a day or so. I am a college anatomy and physiology professor and am pretty good at locating accurate and current information.
Thanks,
Lori

 

[catwoman]

LoriSue:

Your family history is interesting. All females who have it, from your post. Any males who have it?

 

[LoriSue]

Male BAV in my family

Male BAV in my family

Catwoman,
From what I understand that was never a diagnosis of BAV from any of the male family members. For the men along my mother side (which is the family line affected) my grandfather did die along the side of the road one night of suspected heart problems but we never did an autopsy. That was before we knew about BAV. My grandmother's father lived to be 90 and seemed to be symptom free. I still suspect my great grandmother had BAV, the symptoms she was suffering before she died is what causes my suspicions, but who knows it was 1923.....maybe it was the flu.
It is interesting to me that the BAV followed every one of us women so closely especially since the prevelance of the problem seems to normally lean toward the men.
Lori

 

[catwoman]

LoriSue:

Amazing -- seems to be a dominant gene at work in your family. In others, seems to be variable penetrance.

Am familiar (somewhat) with amyloidosis, particularly renal amyloidosis, in animals. It can skip a generation or two -- or siblings or half-siblings were verified RA cases. Interesting to do pedigree research for health. Same as looking at family trees, with health factors. Easier with animals, because of shorter lifespans.

Have you pieced together/uncovered other health information that might be useful for other members of your family?

 

[catwoman]

LoriSue:

Just thought of this: Have you ever seen any of the research of the Human Genome Project? I think the National Institutes of Health was working on it. Dr. Leslie Lyons -- now at UC-Davis, I think -- was one of the geneticists involved in it.
This is the project of mapping all the human genes. Don't know how far along or if they've finished the project.

 

[Arlyss]

Hi LoriSue,

The first link under my earlier post in this thread refers to the genetic work regarding chromosome 15q.

It is certainly possible that today's data regarding bicuspid aortic disease is incomplete, especially regarding the occurence in women. Studies may not include both genders, and autopsies are often not done. (Similar to the recently emerging information about women and traditional heart disease, which was viewed as primarily a man's disease, but is now understood to actually be the number one killer of women.)
I am aware of other families where this condition follows the female line, as well as families where it affects both men and women. Generations are skipped, and more than just "first degree" relatives can be affected. There is tremendous variation. My husband is the only one we can identify with this in his family.

I hope that your family members are being carefully screened for aneurysms of both the aorta and brain. Bicuspids have been found to develop aneurysms in either or both of these areas of the body.

Arlyss

 

[LoriSue]

Hi Arlyss,

I did look at this study before. I find the genetics of this disorder fascinating (from a scientific point of view). I have just applied to graduate school to study molecular biology and biochemistry. Who knows......maybe I will engage in research concerning BAV.
I did read in one study that BAV is autosomal dominant which implies that it isn't sex-linked. Autosomal dominant means that the abnormal allele of a gene is dominant while the normal condition would be recessive and acquiring one dominant allele from one parent will result in expression of that particular phenotype (messed up valve). But this adds a degree of confusion because typically, when a phenotype (in this case BAV) is autosomal dominant the phenotype will be seen in every generation with a ratio of 1:1. This is not necessarily the case with BAV, (except in my family). Unfortunately, I am not a geneticist (I wish I were) and can not offer a good explanation. If you have more info....please let me know. I never tire of the learning experience.

Lori

 

[Raverlaw]

Fascinating links. Thank you.

My congenital BAV seems to be an isolated instance, at least as far as I know. Both grandfathers lived into their 90s. My father has some heart trouble, but not valve disease. My brother and son are clean, as are my sister and daughter.

My mother, who dwells on these things, blames it on smoking while she was pregnant with me.

 

[Heather Fisher]

LoriSue, this is really interesting. My father did not have a BAV but he did have a coarctation of the aorta. He also had surgery X2 for aortic graphs due to aneurysms. (He was also a professor of anatomy and physiology at the University of Arizona) His dad, my grandfather, died of suspicious circumstances that could have bee BAV or aortic dissection and rupture. Keep us updated if you find out anything else.

Heather

 

[Susan BAV]

Very interesting, everyone -

And Bill, I have wondered if my mother's smoking while pregnant with me contributed to my BAV; it's just a wild thought, not based on any facts I'm aware of. My paternal family has aortic problems and hypertrophic cardiomyopathy (sp?) but no other BAV that I'm aware of other than me. I really hope my sons don't have or develop any of these problems.

And Arlyss, thank you again for all of your help several months ago when I really didn't know what to do/ where to go, for a second opinion! I can hardly believe how much better I feel now! We ended up consulting with three different surgeons. Had I waited for worsening symptoms, as per directions from my local cardiologist, I might now be typing this now...

~Susan

 

[Arlyss]

Hi Susan,

So glad to hear that you are feeling much better! You were very brave and had the strength and courage to go beyond that initial local opinion and seek the help you needed!

Take care,
Arlyss