September Awareness 2021 - TAD and the Tip of the Iceberg

 

The Tip of the Thoracic Aortic Disease Iceberg?
Photo by Danting Zhu on Unsplash

At BAF we have spent the month of September 2021 focusing on those who need life-long thoracic aortic care. 

It is so encouraging to see the increased global awareness of thoracic aortic disease. It has come a long way in the 20 years since my personal experience with my husband began. In the closing hours of this month, I am caused to reflect with gratitude on that which is seen and known - that which is above the water, so to speak.

Below the Water Line

However, those unknown, unseen, "below the water line", are those with unmet TAD challenges, those not receiving life-long aortic care. Who are some of these people? 

• the undiagnosed
• diagnosed with bicuspid aortic valve (BAV), aorta not evaluated and monitored
• replaced BAV, prosthetic valve monitored but not aorta
• TAV relative of someone with BAV, aorta not baselined or monitored
• prior elective aortic procedure, such as replacement of a portion of the ascending aorta, remaining aorta not monitored
• prior elective aortic surgery for coarctation, not receiving effective ongoing monitoring

What about those who survive aortic dissection?

Are those who survive an aortic dissection ever presumed to be "fixed"? Do they become "lost to follow up"? Those we have met at BAF are receiving careful monitoring, perhaps because of their physicians' appreciation for their very survival and the injury done to their aorta. If any of them are not receiving ongoing monitoring and additional intervention as needed, they are also at increased risk, below the water line.

The BAV/TAD Population - 6.7 Million People in the US Alone

The BAV population is large: estimated at up to 1 in 50 people (2 %). Checking the census bureau population clock, it displayed the number of people in the United States as 332,800,350 people. Two per cent, or 1 in 50, is 6,656,007 people born with BAV in the United States alone. 

Whenever I am in a group of 50 people or more, I wonder about those around me, more frequently they are males, born with a two-leaflet aortic valve in their heart - possibly already replaced. I have met some of them over the years, sometimes in such unexpected settings.

Some statistics mention that 5% of those with BAV dissect. Five percent sounds small. In the financial world, it's only 5 cents out of a US dollar. When applied to a large number however, such as 6.7 million, that relatively small percentage yields a six-figure result: 335,000.  

When applied to humanity, think of the tremendous number of BAV lives with a torn aorta in the United States alone.  However, this is a global, not just a United States, problem. 

The BAV/TAD View in 2021 

Twenty years ago, it was very difficult to find information and help for an "ascending aortic aneurysm", but we did it.  Knowing how challenging it was, we were moved to help others, many who also no doubt thought they were "fixed for life" by a BAV replacement.

There are still those today with a replaced BAV and presumably receiving good ongoing care, who have no idea their aorta is bulging, endangering them. I spoke to one of them quite recently, whose BAV was replaced 9 years ago. This person is above the TAD water line now, the bulging aorta exposed, receiving comprehensive aortic care.

I ponder once more how many with BAV/TAAD die undiagnosed, uncounted, a "natural" death without autopsy; perhaps an in-hospital death due to aortic dissection, but the aortic valve condition unspecified. How large is the iceberg beneath the water?

In 2021, we are in a better place in many ways, but not yet where we aspire to be in terms of BAV/TAD. We look forward to new advancements that will come through the efforts of gifted physicians, surgeons, and researchers around the world. 

As those affected 

are included

 in the heart/aorta teams of today,

 together we will advance,

 lowering the water line,

more receiving life-long aortic care,

Creating a climate of hope,

~Arlys Velebir, Bicuspid Aortic Foundation

 

BAV, Aorta 4.5 cm and "Paper Thin"

Surgery is Behind Him Now!

Hope, Courage, and
 the Heart of the Warrior (red jasper)

With the soft chiming of a monitor as background music, his voice on the phone was music to my ears. From his hospital room he told me some wonderful things - he is recovering well, he has a new prosthetic valve in place of his failing BAV, and lots of his aorta was removed. He will soon be out the door and on his way home to recover, wonderfully repaired inside!

And then he told me something that gave me chills. His surgeon had found that his aortic aneurysm was paper thin. Yes, paper thin and fragile at "only" 4.5 cm.

In theory, it was not supposed to be that thin, fragile, and dangerous at that size. In some people, it is.
The challenge is, who are those people? How can they be identified?

His Failing BAV Justified Surgery

He contacted us at BAF after his initial diagnosis. He had additional testing and then sought a surgical opinion at a major center. The surgeon there initially thought of retesting again in 6 months, but after further reviewing the failing BAV and its affect on his heart, the decision was made to schedule the surgery.

Did a failing BAV prompt surgery

 in time to prevent his aorta from tearing? 

Yes, the known justification for his surgery was the BAV. That is because there is no way to know, no testing, to show how fragile the aneurysm is. Size alone does not tell enough.

There is no current testing to tell anyone that this aneurysm was dangerously thin and fragile at a relatively small size.

This is why even those who are diagnosed may dissect or rupture their aorta before they have surgery. One surgeon told me that a local hospital is actually seeing more, rather than fewer, dissections come to the emergency room. Something is very wrong with that picture! I am so thankful that it will not happen to this young man -  he will not experience life-threatening bleeding in his chest. Some time in the next 6 months, without surgery, what would have happened to him? That question, that threat, for him, is gone now.

He is 39 years old, a husband and father with young children. He is the typically active BAVer. He holds a responsible job and is intelligent and highly capable. In short, he is in the prime of his life.
Thanks to timely diagnosis and surgery, he will soon resume his active, busy life with his family once again.

Prevent Dissection and Rupture - They Should Not Happen!

Dr. Lara Gharibeh, Dr. Alice Lau
Both engaged in BAV research at U of Ottawa

This is why research that helps explain what happens in the walls of the BAV aorta is so critical. If markers can be found that will show which aortas are at high risk of tearing(dissection) and rupture, those people could have surgery before it happens.

This is why the recently published work about the BAV aorta at the University of Western Ontario is so important.  At the University of Ottawa, we look forward to the results of research on the aortas of BAV mice.  We are encouraged that there is an increasing awareness of this issue, and there are those pursuing greater understanding, such as the authors of this recent paper about BAV aorta risk stratification.

With Dr. Marc Ruel, Chief of Cardiac Surgery, Ottawa Heart Institute

The treatment for BAV and ascending aneurysms at this time is primarily surgical. While we wait for more answers, being proactive in searching for information and answers, consulting with knowledgeable surgeons at aortic centers, and making proactive decisions together, are all things that we can do to achieve the goal: safe, elective surgery. This young man has had his elective surgery now! He has our very best wishes as he returns home!

Asking questions,

Seeking answers, 

Together we are,

Creating

 a 

Climate of Hope,

~Arlys Velebir

        Bicuspid Aortic Foundation