Be Careful About Tests/Screening in "BAV" Families

[Arlyss]

When someone is found to have a two-leaflet (bicuspid) aortic valve, it is a clear signal for other family members to be checked for this condition.

But physicians are learning that just looking for that landmark (an aortic valve with two leaflets) in families is not enough to keep individuals safe.

The following paper was published almost a year ago now. The language used is very compelling, based on their study of 13 families affected by bicuspid aortic valve. I am posting a link to the abstract in hopes that anyone reading this will insist on very careful evaluation and ongoing monitoring if their family includes someone with a bicuspid aortic valve.

Two of these authors are particularly well-known for their genetic work in thoracic aortic disease.


http://www.ncbi.nlm.nih.gov/sites/e...ez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum


Best wishes,
Arlyss

 

[Susan BAV]

.
Arlyss, thank you for providing this important information:

"The autosomal dominant inheritance of bicommissural aortic valve (BAV) (Online Mendelian Inheritance in Man #109730) in some families is well-documented; however, the inheritance of BAV with thoracic aortic aneurysm (TAA) is less clear. Whether the aneurysm is secondary to hemodynamic perturbation related to the valve abnormality or a primary manifestation of the disorder remains controversial. Guidelines are needed regarding the follow-up and treatment of these patients and their families. Thirteen families with at least one individual with TAA and BAV (BAV/TAA) were evaluated prospectively by standard echocardiographic methods or clinical history. Affected status was determined by the presence of BAV or TAA or a history of dissection, rupture, or surgical repair. Six of 13 families had at least two family members with both BAV and TAA, often in successive generations. Informatively, all 13 families had at least one family member with TAA in the absence of BAV. Thirty-five percent (39/110) of family members had BAV/TAA or TAA, and the majority of families (11/13) had maximal dilatation above the sinotubular junction (STJ). Vascular dissection or rupture occurred in seven of 13 families and in individuals with structurally normal aortic valves. Two families had non-manifesting, obligate carriers. Three families have members with other left heart outflow tract anomalies. This study confirms autosomal dominant inheritance with incomplete penetrance for BAV/TAA in these families. Furthermore, our data suggest that the component features, BAV and TAA, are independent manifestations of a single gene defect. 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."

 

[Duff Man]

My aunt had a BAV before AVR, but no aneurysm. Another aunt has regurgitant valves. I think the middle eastern folks were a little too loose with the inbreeding thing.

 

[Kari72]

Both my daughter and myself have the anuerysm of the ascending aorta and I am taking my 9 year old son tomarrow to have some genetic testing done at Shands Hospital in Gainesville, Fl. He has already had an echo, which indicated no problems. They said to have the genetic testing done to rule out problems in the future. Not really sure exactly what they are going to be testing for, but I hope he comes out with no problems. I do think it is very important that you have children checked, because as I found out with my 14yr. old, it can be passed on. I don't know if I inherited this from one of my parents because they both refuse to be checked!
Kari

 

[Ross]

I don't know if I inherited this from one of my parents because they both refuse to be checked!
Kari

That's a shame too, because one or the other could be in serious danger and not even be aware of it.

 

[pamela]

Meanwhile, I struggle with my PCP to have genetic testing done. Can my cardiologist recommend it, I wonder? I'm going to send an email and links to these studies to his office. Maybe he'll want to see me.

 

[Kari72]

That's a shame too, because one or the other could be in serious danger and not even be aware of it.

It is ashame Ross. Their attitude is that if they did pass this on to me and my kids, they are too old to want to have any of their problems fixed. I can pretty well guess which parent it is that I probably inherited this from, but he is verrryy stubborn! I inheritated that trait as well!!

 

[Kari72]

Meanwhile, I struggle with my PCP to have genetic testing done. Can my cardiologist recommend it, I wonder? I'm going to send an email and links to these studies to his office. Maybe he'll want to see me.

Pamela- Your Cardio might send you for testing. Mine mentioned it, but has not followed through. I know that the reason they are sending my son is due to the fact that his echo came back fine, and they want to figure out if he needs to continue to be monitored yearly or not. I would like to know for sure if I have Marfans or something else that is causing all of my problems. But, it does not hurt to ask your cardio if he can do it.

 

[MrP]

Thanks Arlyss. This is very helpful.

After an initial screening of a child, how often should regular echo tests be scheduled?

All my best,
MrP

 

[Kari72]

Thanks Arlyss. This is very helpful.

After an initial screening of a child, how often should regular echo tests be scheduled?

All my best,
MrP

It is my understanding that they should be tested once a year, for a child who has a family history but no problems are found with the initial echo. That child should be sent for a genetic test to see if the once a year echo is even needed. If everything is as it should be genetically, no further echos are required, or so I have been told.

 

[Arlyss]

Genetics and BAV

Genetics and BAV

There is more than one group looking at the genetics of BAV. They are finding associations with different genetic location abnormalities in different families.

So there is no single genetic answer, and today it is not possible to determine if someone in a BAV family is at risk or not through genetic testing. It is possible to participate in studies that collect data, adding to the genetic knowledge base.

I do not follow the most recent genetic testing for them, but there are other syndromes affecting the aorta where they may be doing genetic blood tests as screening. When going to a geneticist, they should be able to show you the studies that support the testing they are doing and what syndrome they are looking for.

For those in BAV families, they can do as this paper suggests. Measure the aorta periodically, even if the valve appears normal. It could save the lives with normal appearing valves.

I would add that the head and neck vessels should not be forgotten. More information will become available about this in the future.

Best wishes,
Arlyss

 

[surfsparky]

Thanks Arlyss...I have saved this very important information.

Yolanda

 

[aussigal]

Everything I know about heritable BAV's I owe to you Arlyss. My kids were diagnosed shortly after me and are now followed/monitored because of this knowledge and will hopefully never get the shock of "suddenly" finding an aneurysm...if they are unlucky enough to get to the aneurysm stage it will be something they have monitored their whole lives.

I urge all our memebers here to get those family discussions happeneing and encourage their loved ones to get tested and be aware!

 

[KAJ]

I never thought about my parents being tested. I suspect I inherited from my father's side of the family (tall and thin). All four of our children have been tested. Our oldest daughter (13) has an enlarged aortic root and a biscupid valve.

My identical twin brother has been checked by two different doctors. Both say nothing is wrong with him. I find it hard to believe but I think he has even had a CT scan.

Karl

 

[Bill B]

Another paper from Cedars in LA making the point that the inheritance pattern is variable - some get BAV, other get dilated aorta w/o BAV

http://content.onlinejacc.org/cgi/content/abstract/53/24/2288

We are going to screen our kids in the next few months. We need to work out how to break this to them w/o creating unnecessary fear. I hope they can just lead completely normal, active, highly athletic lives like I did with a stable (but unknown) BAV until I was 61.

My wife is also wondering about doing the screening outside of insurance to circumvent the pre-existing condition situation for future insurance. I haven't thought that through. Anyway, we are going to seek expert advice on all of this before we proceed.

 

[Lily]

Another paper from Cedars in LA making the point that the inheritance pattern is variable - some get BAV, other get dilated aorta w/o BAV . . .

Interesting. One of my sons has some Marfans flags but he evidently does not have a bicuspid.

While there is only one diagnosed bicupid in my entire extended family, there is a paternal history of valve problems, primarily aortic replacements, and none of the valve replacements have required coronary artery work; all of us have been told our arteries are clean as can be, despite high cholesterol issues, the clean arteries being typical to many/most with bicuspid valves. Happily, no aneurysms in the family either.

There must be so much more yet to learn about the variations within this "disorder."

So many questions. Lots of theories but few definitive answers.

Years ago I recall reading that bicuspids were about 3 or 4:1 men to women. I wonder if that is still the current thinking. Some bicuspids never need surgery. How many remain undiagnosed? And why did their bicuspid never manifest itself? What may exacerbate the deterioration of the bicuspid valve? Might some yet unknown variable account for that ratio?

Chemistry seems to play a role, correct? I was thinking of something I'd read, somewhere, about the hormonal changes of mothers contributing to [their own] bicuspid malfunctions and deteriorations.

Is a combination of factors often necessary for a bicuspid valve to decline? Such as an infection, like endocarditis?

Years ago I also began a thread here with an inquiry for bicuspids as to whether their parents smoked from conception to birth; and, as I recall, most responded in the positive. If that is common, and not just some random result, what role might nicotine have played with those wayward genetic cells? And since smoking cigarattes seems to be at a downward trend in the US, is there a reduced incidence of bicuspids?

( Edit - Sorry; my memory, among other things, is faulty. There wasn't even a bicuspid forum when that thread was begun in 2007. The question was actually addressed to all with valve issues. But if anyone's interested, you can find the thread with an advanced search and "smoke" in the title. )

 

[csutherland]

I keep thinking there must be some connective tissue/marfan-like disorder in Jerry's family. His family on his dad's side are tall & thin with long arms & legs. Jerry and 2 of his male cousins had AVR, he & one of those cousins have ascending aortic aneurysms, his niece, in her 50s, has hypermobility (sometimes associated with Ehlers Danlos Syndrome), two of our daughters are tall with unusually long arms, and it looks as if two of our granddaughters will be same way. Also Jerry, his brother and at least one of these cousins have all had 2 hernia repairs each. The family lives to be quite old in spite of all this; he's 72 and the youngest. His dad looked very much like Abe Lincoln and lived to be 95.

Jerry's surgeon looked at me as if I was nuts when I asked if he had had a bicuspid valve, and his cardiologist laughed me off when I mentioned marfan-like characteristics. For sure the armspan test being longer than his height is true of him.

 

[Duffey]

Susan,
I don't remember your question regarding nicotine, but neither I nor my husband smoked and our son has a BAV. Same thing with our grandson. His parents don't smoke, but he was born with the bicuspid valve.

 

[TXGal]

I have MVR and my 23 month old son has BAV.. I was told by my cardiologist that my chances of having a child with a heart condition are just like anyone else.. so I wasn't expecting anything on my sons echo.. I had him tested at 6 months and again at 1 because of my heart condition and unfortunately he has BAV... breaks my heart

 

[Arlyss]

I had no idea when I first came across the information in that paper in 2007 that it would directly apply to our family this year.

We had one family member whose aortic valve was always difficult to image clearly, despite having more than one kind of test to look at it. The valve was stenotic, but it was uncertain whether there was at least partial fusion of the leaflets or not. It was clear that the ascending aorta was aneurysmal. This year it was time for surgery, and careful examination of the aortic valve after it was removed showed 3 distinct leaflets with no fusion at all. So we know now that some in our family are BAV, some are TAV, and regardless of the number of aortic valve leaflets, the aorta is not normal and has developed aneurysm.

We encourage our blood relatives to have their aorta in their chest measured periodically, as this paper recommends.

Best wishes,
Arlyss