BAVD (BAV/TAA) - Genetic Information Supports Importance of Family Screening

[Arlyss]

This month (August 2007) a paper has been published that brings together in one summary very important information for families where a BAV has been found.

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/e...ez.Pubmed.Pubmed_ResultsPanel.Pubmed_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. An MRI or CT with contrast will show the entire aorta. The requirement to see the aorta above the STJ (sinotubular junction) justifies the cost of MRI and CT in these individuals.

This paper builds on the timeline of information about BAVD (BAV/TAA) first reported in the medical literature in 1928, 1952, and 1972. As genetic analysis confirms what families have been experiencing all along, it should give them support to get the proactive screening and follow up they need. Notice it is not just a "one time" screening, but "follow-up at regular intervals". This condition "progresses" with time.

Best wishes,
Arlyss

 

[francie12]

We are indebted to you once again, Arlys. The statement, "BAV and TAA are independent manifestations of a single gene defect," backed up by the experience of 13 out of 13 families, was an eye-opener. My family could be one of those thirteen. I wonder if the drs will be aware of this paper when I take my younger (non BAV) son for his one year followup of his dilated asc. aorta in Sept. I'll bring it with me! Thanks for finding and summarizing the paper in such clear terms. Hope all is well with you and yours.

Jane

 

[Mary]

Well this is an eye-opener.

I thought our worries could be confined to the one son who has a diagnosed BAV. I guess we're not in the all clear after all.

 

[Susan BAV]

Very interesting. Thank you, Arlyss.

 

[aussigal]

Thanks again Arlyss...
I need to print that paper.

I have accompanied my sons to their scans and asked especially that the technician scan the ascending aorta for any enlargement/aneurysm. So far they have done as I asked and we are keeping a close watch on the younger son as he has a slightly enlarged aorta. I will continue to educate all 3 boys to insist this area be scanned lifelong, including our middle-son who escaped a BAV but has very mild MVP.

 

[Marguerite53]

Thank you for calling that to our attention. I wonder if my insurance would consider reimbursing me for the the screening from 2 years ago ; that was expensive!!

Of the 3 children screened, youngest (most thorough screening) has trace regurgitation, perfect valve. Middle has very mild MVP (and looks like a Marfan's candidate to me), oldest has slightly enlarged heart (teensy bit; but with Abe Lincoln hands and serious work-out guy, doc said not to worry about the measure). My ascending aorta is fine, no work was done on it. Theirs are all in good shape.

Good to keep an eye on things, though. Thank you for the info. My boys were screened through a study out of UW in Seattle. I wonder when those results will be out.

Thanks. Marguerite

 

[KristyW]

How timely!

How timely!

This is a very timely post and article for me.

Here's a brief family history:

Great-grandmother...enlarged heart (according to her country doctor) Died from undisclosed heart ailment (Death certificate says cardiac arrest so who knows?)

Her son (my grandfather)...Died from "cardiac arrest". No autopsy done...so no conclusive diagnosis.

His daughter (my mother). BAV to be replaced next month.

Her daughter (me). AVR surgery in June 2001.

My mom's brother has a heart murmur (not sure of cause, but I have a good guess).

I am surely going to have my children screened and I will encourage my brother to be screened as well.

Thank you!

 

[Arlyss]

Some BAVs are very clear and easy to detect, even by "regular" echo through the chest wall - others are not. And the abnormality of the aortic valve may be so subtle that it is missed, even with the very best imaging today.

Perhaps some day these genetic studies might lead to other ways to diagnose BAVD in families - but until then, at least they are confirming what families are experiencing.

Individuals and families with BAVD can have many wonderful, normal days - but they have to remain vigilant - this is not a straight forward condition and no doubt there are several genetic variations behind it. After what my husband has experienced and I have seen in others, I will never be complacent about this condition.

Best wishes,
Arlyss

 

[Bad Mad]

If you have BAVD -does anyone know what the chances of brothers/sisters/parents having it too? The study doesn't seem to clarify how many people out of each of these 13 families were then in turn affected when the 1st person had already been identified.

Also, can anyone suggest figures/chances for a person who has BAVD passing it on to their children? (well I know its not contagious but you know what I mean )