Differences in Aorta of BAV and Marfan Syndrome Children

[Arlyss]

The following paper confirms what I had previously read - that the aorta of those with BAV enlarges the most in the ascending aorta. The Marfan syndrome is different - the greatest enlargement is at the aortic root. Even though they both, along with other conditions/syndromes, affect the aorta, they are different in the way they do so.

http://www.ncbi.nlm.nih.gov/entrez/..._uids=17027578&query_hl=1&itool=pubmed_docsum

We are beginning to learn several important things. From this paper and others that have been published, we now know that the aortic enlargement is present in BAV children, compared to those with normal aortic valves.

We also know that with BAV, the trans thoracic echo may not show all that needs to be seen - in this abstract, it mentions that the dilation of the aorta extended beyond the region of measurement. This is why aneurysms in those with BAVs may be missed when trans thoracic echo is used, and also why another imaging test should be done for those with BAV to see the entire aorta and extent of dilation. My husband's aneurysmal tissue actually extended into the bottom side of his aortic arch.

For those of you who have BAV children, and even as adults, BAVs are sometimes confused with Marfan syndrome. BAVs have their own characteristics, including abnormality of the aorta, and there is no need to try to fit them into another category. Papers like this one should help families and physicians understand the nature of BAV as a condition in itself, and not try to confuse it with other conditions that may also affect the aorta.

Best wishes,
Arlyss

 

[Andrew'sMom]

Arylss,
Thank you for this information. I just recently had a conversation with my son's cardiologist regarding aortic dilation, and he plainly stated to me that there is no info to compare BAV children with AA dilation to other than info already compiled on children with Marfans. Is that little paragraph the entire text of the study or is there somewhere that would have a more lengthy explanation of the study, including recommendations for scans beyond trans thoracic echo?

 

[aussigal]

Thanks Arlyss...
I guess we are the parents of the first generation of kids who will benefit from being monitored throughout their lives, and hopefully provide some studies to base more papers on etc...
Our 2 BAV boys go tomorrow to see their Cardio for another check-up...I will report back on their progress. The youngest already has a dilated aorta. Both his and my aortic root is/are enlarged but not to the same size as the AA. The kids' BAV's and dilated aortas were found by regular Echo exam last year. I pray that everything is stable and still the same size.

 

[tobagotwo]

I don't seem to read it that that aortic root dilation is greater in Marfan's. The part that seems to be more associated with Marfan's is specifically the dilation of the aortic sinuses, indentations at the top of the valve, just above the closure (and certainly also part of the root) where the right and left coronary arteries originate.

From www.ncbi.nlm.nih.gov (PubMed) Comparison of the Pattern of Aortic Dilation in Children With the Marfan's Syndrome Versus Children With a Bicuspid Aortic Valve. Beroukhim RS, Roosevelt G, Yetman AT.

Subjects with BAVs had greater dimensions at all levels of the aortic root compared with normal controls. Patients with BAVs also had greater dilation than those with MS at the level of the annulus and the ascending aorta, with dilation often extending cranially beyond the region of measurement.

I bring this up only inthat there seems to be a certain amount of valve and replacement valve failure due to aortic root and base instability that is associated with some BAVs, and this should not be overlooked for possible stabilization in any surgical effort, particularly in Ross Procedures.

When they refer to the expansion continuing cranially beyond the point of measurement, aren't they referring to the arteries that actually going into the skull to feed the brain, where they aren't measurable by echo? Or am I misinterpreting that statement? Certainly, the use of alternate measuring technology you mention makes sense, regardless.

I'd like to see a larger study someday. There's no reason to dispute the conclusions, but twenty-five Marfan's patients and thiry-one bicuspid aortic valvers is a small sample.

Best wishes,

 

[Arlyss]

Here is another study from Colorado regarding BAV children. This may be a helpful reference to point physicians to as well. I am sorry these are only abstracts - often the full paper is not available without a fee or access to the journal. However physicians should have access to the full article.

http://www.ncbi.nlm.nih.gov/entrez/..._uids=16950196&query_hl=9&itool=pubmed_docsum

I was most interested in the BAV/Marfan comparison because there has been so much confusion in this area. These conditions should not be confused, and the aorta should be assessed and surgically treated within the context of each condition. They are not the same, even though the aorta may tear or rupture in either case.

The issue with echoes and the BAV aorta is that the echo may not go high enough to see the ascending aorta at all. This is what concerns me most. People are having echos year after year and their aneurysm is not being found because the ascending aorta is not imaged. Dr. Eric Isselbacher's presentation encourages physicians to check the echo images regarding how much of the ascending aorta is visible and to use another test if it is needed to see the ascending aorta. Personally, I would want my entire aorta imaged. In children, decisions need to be made about what is the best way to image them. They should not be exposed to x-rays.

My husband's ascending aortic aneurysm was detected by echo first, and I am very grateful to the excellent technician who did it! It was the wake up call that prompted further imaging of his entire aorta. These are things to carefully discuss with one's doctors.

Regarding the aortic root, first of all, the term is not used consistently - some physicians will use the word root for the entire ascending aorta, which is incorrect. I was so confused with my husband's condition at first, because the term root and ascending aorta were both used to describe his aneurysm, and I kept wondering where it really was!

It is important to know that root and ascending aorta may be used differently when reading reports or published papers. The aortic disease text that I have credits Dr. Reid for defining the root properly in 1970. The root according to this is that very first part of the aorta arising from the heart, that includes three "pouches" or "pockets" called the sinuses of valsalva. The two arteries that supply blood to the heart branch off from these sinuses. I have read some thoughts regarding the aorta being shaped this way here to help with the closing of the aortic valve leaflets.

The ascending aorta begins where the aortic "pouches" end and the aorta goes straight up - the place they call the sinotubular junction.

From what I have been told, the Marfan aorta bulges hugely right at the root.

The aortic root is abnormal/dilated and needs thoughtful attention in those with BAV also. (But the largest diameter of bulging of the aorta in BAV is not down in the root, but in the ascending aorta. So decisions about timing of surgery need to look at that largest dimension, higher up, of the ascending aorta.) There is a surgical technique called aortic root remodeling - this is what my husband and many other BAVs that I know have. It addresses the sinus that is typically dilated in BAVs, but leaves the coronary arteries intact in the native aortic root tissue. Based on what is known today, it is what I would choose for my own aortic root if I had a BAV and also access to a surgeon skilled in this technique.....

I hope some of this helps......and I hope that there will be lots more studies, but today we are beginning to see in the medical papers what BAVs have been experiencing all these years......it is finally coming to light....

Best wishes,
Arlyss

 

[francie12]

Thanks, Arlys, Bob, for the article and comments... Had to smile because our cardiologist is always saying, trying to be reassuring, that BAV aortas "are not like Marfan's." RIGHT, but that doesn't that they aren't a concern in their own right! The pediatric geneticist is more interested in this title--Thoracic Aortic Aneurysm Syndrome. Strange how BAV aortas are not as respected... Could it be because, though they do tend to be dilated, they don't dissect as often? Is that even the case? And even if it were, they dissect enough to be a real concern that needs to be carefully evaluated and followed. Screening tests on brother and father of our BAV son recently revealed a borderline dilated aorta in both cases--but normal tricuspid aortic valves. I should have majored in genetics!

Good luck with your boys, Aussiegal!

 

[tobagotwo]

I've struggled with the usage of the term "root" as well. It's bandied about loosely, and doesn't seem to mean the same thing to different cardiologists. Or maybe they just glom the features of the aorta together to avoid having to explain each of them. I have even seen what I consider the root to be referred to as the base, and the ascending aortic artery referred to as the root all the way to the first branch arteries. Makes it tough to make sense of a lot of the literature.

Some background...

The sinuses of Valsalva, (a.k.a. Morgagni, or Petit), often simply referred to as the Aortic Sinuses, are just above the aortic valve opening, where the three leaflets might rest if they opened fully (if you had three, for BAVs), and are labeled as right (where the right coronary artery begins), left (where the left coronary artery begins), and posterior (no artery in this one). The backpressure from these two coronary arteries does help the aortic valve close more quickly when the left ventricle stops squeezing.

So what are we talking about? How does all this go together?

Going up from the heart (left ventricle), you have the base, below the aortic valve (which I consider part of the root); the valve; the aortic sinuses (why isn't it sini?), which I still consider part of the root; then the ascending aorta continuing up to the first branch artery (which is the common lead to the right subclavian artery [feeds the right arm] and the right carotid artery [feeds the head]. This is where it becomes the aortic arch.

Similar feeds for the left side follow, then the vessel becomes the descending aorta, because it now heads down; is shortly renamed the thoracic aorta (feeding the chest and the organs within it); then the abdominal aorta (feeding the abdomen and its included organs); and finally splits into two arteries that feed the pelvis (iliac arteries); which follow out to the legs (femoral arteries).

The femoral artery is where your interventional cardiologist taps into your bloodstream for a cardial catheterization, threading the catheter back up through all the arterial sections we just mentioned to the heart.

Whew. Doctors must have named the original secondary roads. Every time you pass a town line, the name changes.

Best wishes,

 

[MrP]

Francie12,
Aortic dissection in BAV patients occurs at a rate 10-fold the normal population. I do not know of any studies specifically comparing BAV and Marfans, however.
MrP

 

[Arlyss]

Screening All Family Members Once BAV is Found

Screening All Family Members Once BAV is Found

Hi Francie12,

In BAV families, it is apparently possible for the aortic valve to appear normal in some individuals, and yet they develop aortic aneurysm. There is a study that was published, I believe out of Canada, that describes families with BAV where some members had aortic aneurysms even though their aortic valve appeared to be "normal", i.e., trileaflet. Other family members had an easily recognizable BAV.

It is possible that there is abnormality of the aortic valve in these individuals with enlarged aortas, but our current imaging is not able to detect it. I have a friend who is an example of this - he is always told that his aortic valve is trileaflet when he has an echo. This person survived aortic dissection, and in surgery his aortic valve, (which works well and is still in his chest), was found to have partial fusion of the leaflets, so it is in fact a flavor of bicuspid. His surgeon says he is definitely "bicuspid"!

There is significant variation in the malformation of a BAV. No one knows what causes the aortic valve leaflets to fuse, and there are papers that describe the different characteristics of BAVs -- with raphe (ridges), without raphe, etc. There are also unicuspid aortic valves that look something like a donut!

The important thing is to do as you have done with your family members: once a BAV was found in one, you have had the others checked and now can monitor their aortas going forward. It is important to avoid surprises at all costs.

There is not enough studying or tracking of deaths and dissections to know exact numbers, but based on the C. Ward paper, BAV is the single most common reason for thoracic aortic dissection.

Best wishes,
Arlyss

 

[francie12]

Thanks, Arlyss (and Mr P),
Your responses add an important part of the picture here as hubby is refusing to go for the strongly recommended MRA...!! Younger son was recommended to have followup echo in a year, which we will definately do. Thanks for giving me some hard facts to show Dad...three big aortas in one family sound like something may be up to me...
All the best,
the Francie12 family

 

[Arlyss]

With time, I have come to a great appreciation of current imaging technologies - they are a gift to those with aortic disease in the chest. Without proper imaging, and accurate interpretation of those images, we remain very vulnerable to what is happening inside.

Sometimes I have to remind myself that there was a time when there was no way to "see" the aorta in the chest effectively, and knowledge would have come from autopsies - knowledge gained at the expense of someone's life. They might have found aortic dissection or rupture after death, but how to find it in the living? Today we can find it, if we look.

It also is very normal to be anxious about test results - wondering what has happened inside our bodies since the last scan. But we do not want to be caught by surprise by the aorta - we want to be in control of what happens and when.

Best wishes to the Francie12 family.....

Arlyss

 

[Natanni]

Thank you Arlyss for again keeping us informed on this subject. I appreciate this info so much.

 

[Karen]

peace of mind!

peace of mind!

With time, I have come to a great appreciation of current imaging technologies - they are a gift to those with aortic disease in the chest. Without proper imaging, and accurate interpretation of those images, we remain very vulnerable to what is happening inside.

Sometimes I have to remind myself that there was a time when there was no way to "see" the aorta in the chest effectively, and knowledge would have come from autopsies - knowledge gained at the expense of someone's life. They might have found aortic dissection or rupture after death, but how to find it in the living? Today we can find it, if we look.

It also is very normal to be anxious about test results - wondering what has happened inside our bodies since the last scan. But we do not want to be caught by surprise by the aorta - we want to be in control of what happens and when.

Best wishes to the Francie12 family.....

Arlyss

Arlyss, I also appreciate the work you are doing to keep so many abreast of what CAN be done to minimize surprises and prevent unnecessary tragedies. With my referral to a new cardiologist and his recommendation to do a cardiac MR to give us a baseline of aortic arch measurements etc., I have felt extremely reassured. It's worth a LOT to have the peace of mind that someone is watching the numbers and that I can live my life with greater confidence and a little LESS worry.

Francie, I hope that you can have that reassurance for your husband and son!

Karen