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

BAV Aortic Aneurysm Research Break Through

Diseased Aorta - Enlarged and Twisted Shape

This week we have exciting news to share about BAV aortic aneurysm research.

Desperate Need to Understand and Help
We are in desperate need to better detect, understand and appropriately help those with BAV and aortic aneurysms and their families.

Writing this, I remember  Doug Grieshop,  Forever 33, who left a young son and unborn daughter the day that his aorta ruptured. His BAV was never diagnosed, his aneurysm never found in life - only by autopsy.

Researchers Are Unmasking the Villains
At BAF we are very excited by published research, highlighted in the press this week, describing cellular villains in the aortic wall that destroy tissue around them and weaken the aortic wall.

This is work lead by Dr. Pickering, a research scientist, and Dr. Chu, an aortic and cardiac surgeon, who have collaborated to study aortic tissue removed from human patients. They have published their findings, reporting on the existence and trouble caused by abnormal smooth muscle cells in the wall of the aorta. 

According to Dr. Pickering, these abnormal cells produce an enzyme that eats away at the tissue around them, destroying and weakening the aorta. 

Following are press release and links with more information
Exchange Magazine  

Robart's Research

Dr. Pickering's background.

Dr. Chu's background.

Research Paper: Seno-destructive smooth muscle cells in the ascending aorta of patients with bicuspid aortic valve disease

Light Breaking Through the Mysteries 

Can Light Shed by Research Translate to Better Care?

This give us tremendous hope, but there is much more to do.

We know from the work done at Dr. Mona Nemer's Lab on GATA about the genetic abnormalities and BAV in mice families, who are so very much like our human families.

There are studies of abnormal blood flow through BAVs, of aortic wall stiffness.

There are studies about the leaflet configuration abnormalities of BAVs.

There are many things to study!

Now we know something important about the aorta tissue - that these abnormal smooth muscle cell secretions are breaking down the aortic wall!

There is not just one thing, but many things, to think about! What else is happening, that we do not know today? No doubt there is more to understand.

Light is just beginning to shine on multiple factors, some combination of which is making each BAVer experience somewhat unique, but with common tendencies and themes.

Aneurysms and Abnormal Smooth Muscle Cells
If we can identify these smooth muscle cell villains, can we get rid of them before they cause trouble?

Can we find out what causes these smooth muscle cells to become abnormal and prevent that from happening?

The Challenge of BAV Misunderstandings
It is a very difficult challenge when someone is the picture of glowing health on the outside, vibrant and active, but with a serious vulnerability on the inside - prone to aortic valve failure, aneurysm, infections.

Anything that sheds light on what is wrong on the inside helps both patients and physicians believe the reality of the BAV experience.

In the future, if aortic aneurysm disease were better understood, it might help physicians think about and look for BAV and an aneurysm in someone young and healthy-appearing with symptoms, like Doug Greishop, in time to save them. He lived in a state with world-renowned aortic surgical capability. It is tragic that he did not know, that no one knew in time, that he needed that expertise.

While we rejoice over the research and wait for it to translate into better care, we are very grateful for every successful aortic surgery that saves someone born with BAV and their TAV family members! And we do not forget those we have lost.

Today, we see light breaking through, but BAVers remain vulnerable. 

Someday, there will be more light than shadows in the experience of BAV families!

Answers are beginning to come,

Creating a Climate of Hope!

~ Arlys Velebir

                           Bicuspid Aortic Foundation

 

Doing Good in the World of BAV and Thoracic Aortic Disease

BAV and aorta research in Ottawa involves mice like this one

My thoughts return often to the research in progress at the University of Ottawa.

 It is hard to find words that will convey what the efforts there mean to those of us with BAV and thoracic aortic disease.

I will try. 

One of the memories I have from my visit to Ottawa is holding the upper half of a human heart in my gloved hands. The lower half had been cut away. As I looked inside at the upper chambers and valves, to my surprise I saw this was a heart whose aortic valve had been replaced. The biological aortic valve that had been so carefully stitched in place by a surgeon's hands was still firmly in place.

I cannot describe the emotions that flowed through me then, and once again now, thinking of an unknown someone whose heart somehow came to be donated to medicine, to be studied after their life ended. I think of Dr. Abbott's work with preserved hearts in what is today the Maude Abbott Medical Museum in Montreal. There are hearts with BAV there. I hope to see them one day.

The cost of progress that others might live longer and more fully can indeed be very high. The cost of someone else's life. An even greater cost, a tragedy, occurs when lives are lost without learning from them how to help others. It means others will continue to suffer and die.

Everything about these mice, including diet, is meticulously tracked

Mice Hearts and BAV - Families Just Like Ours

We need not learn from our human families alone. At the University of Ottawa there are two different mice groups with specific genetic deficiencies that produce BAV. Like human families, some have BAV, some do not. Each one has their only individual experience, although having the same genetics. They are teaching researchers there about BAV, and they are very good teachers, accurately representing the variability of BAV and aortic aneurysm.  It was a great thrill to visit them and listen to what researchers are learning from them. This research is performed in the Nemer Lab, which is contained within the Department of Biochemistry, Microbiology, and Immunology. 

MRI for research in Ottawa
(Note the small, mouse-size opening!)

Echocardiogram machine
just right for mouse hearts!

Research is Costly

Dr. Sharo Raissi (BAF) with Dr. Daniel Figeys

Dr. Daniel Figeys heads the Department of Biochemistry, Microbiology, and Immunology within the School of Medicine at the University of Ottawa. This department includes the Nemer Lab and BAV research. Dr. Figeys very kindly gave us a tour of the research facilities.  It was impressive to see so much equipment in this facility that is solely aimed at understanding disease and alleviating human suffering.

 

 Doing Good in Our World

Dr. Sharo Raissi (BAF), Arlys Velebir (BAF), Dr. Daniel Figeys

At the Bicuspid Aortic Foundation, thanks to donations from the public, we have been able to fund scholarships to support BAV research in the Nemer Lab in Ottawa. They are adding important understanding to the knowlege Dr. Abbott established so long ago.
Some of us with BAV in our families will be called upon to teach the doctors who care for us more about BAV and TAD than they currently know. Those who have wise, skilled and compassionate physicians to walk beside them will indeed add to medical knowledge as their experiences unfold.

However, anyone so moved can make a contribution to help. In these last days and weeks of 2018, our thoughts may turn  to many things, including where we might give financially that will truly do good in our world.

This is to tell you that you can do good in the world of those with BAV and thoracic aortic disease through a donation to BAF, as we collaborate with those working to understand BAV and thoracic aortic disease. You may donate online at MightyCause 

Thank you for joining with us and

Creating a Climate of Hope,

~ Arlys Velebir, Chairman

        Bicuspid Aortic Foundation 

A Visit to the Molecular Genetics and Cardiac Regeneration Laboratory

So honored to be pictured here with the Molecular Genetics and
Cardiac Regeneration Laboratory researchers. Dr. Mona Nemer is 6th from the right

We met Dr. Mona Nemer initially through a phone call in December of 2016. As she described her work that day, at some point tears began to flow from my eyes. After searching for so long, someone was describing the BAV experience, in both individuals and families, just the way it happens, in my own family and so many others. Without minimizing, without trivializing, Dr. Nemer so fully described what I so painfully know to be true - the unpredictable and sometimes deadly experiences in BAV families.

Dr. Nemer is not a "people" doctor. She is a research scientist. And those individuals and families she talked about so movingly were not human beings, they were mice. Yes, mice families, but oh so much like my own! Families with bicuspid aortic valves and the other complications that can go with it.

I told my husband about these mice - about their two leaflet heart valves, their aortic aneurysms, their dissections, and their high blood pressure! We felt such a kinship to them. From that day onward, we had hope that these researchers would learn even more from these wonderful creatures, things that could help human families like ours and the many millions scattered around the world. It was a hope my husband remembered through out what became the last weeks and days of his life.

I dreamed of just spending a little time in this laboratory, meeting these talented researchers, and seeing these wonderful mice. In September, 2018, my dream came true! It was thrilling to walk into that very special laboratory at last - a place so focused on the challenges of BAV!

Dr. Lara Gharibeh and Dr. Alice Lau sit next to one another in the lab,
 such wonderful collaboration as they search for answers about BAV!

So special for me to look through this microscope that
 they use to study BAV in mice hearts!

Front left, Dr. Bernard Jasmin, Dean of the Faculty of Medicine, Front right, Dr. Mona Nemer
Back far right, Dr. Daniel Figeys, Chair of Dept of Biochemistry, Microbiology, & Immunology
The motto of the Medical School "We teach to heal" is on the wall in French and English

This laboratory is located at the University of Ottawa, housed within the Department of Biochemistry, Microbiology, and Immunology within the Faculty of Medicine. We were warmly welcomed by the Dean of Medicine, Dr. Bernard Jasmin, along with others, spending time getting acquainted before  a very special afternoon of research presentations by three members of the lab: Dr. Lara Gharibeh, Dr. Alice Lau, and Dr. Yuejuan Xu.

In September 2017, the Bicuspid Aortic Foundation provided a scholarship to Lara Gharibeh in support of her research on BAV. This is the paper that she published based on that work:
GATA6 Regulates Aortic Valve Remodeling, and Its Haploinsufficiency Leads to R-L Type Bicuspid Aortic Valve   The full paper is freely available at that link and speaks to the excellent, meticulous work done in this laboratory.

A few years ago, I wrote about BAV families being strangers, unrecognized and misunderstood, when they seek help.   Bicuspid Aortic Valve Families - Strangers in Two Worlds?  At long last, this first day and on the following days there in Ottawa, as a representative of BAV families, I was so warmly welcomed and understood by those who are working very diligently to understand and help us. It was a wonderful feeling, beyond description!! I have that warm glow with me still. I want to thank these researchers once again for what they are doing to help us.

Thank you for recognizing the challenge

and caring about those with BAV,

for seeking answers to the mysteries,

and in doing so,

Creating a Climate of Hope!

~Arlys Velebir

                           Bicuspid Aortic Foundation

Bicuspid Aortic Foundation Announces 2018 M.E. Abbott Scholarship

Lara Gharibeh, PhD, Arlys Velebir, BAF, Alice Lau, PhD
Lara was awarded the 2017 M.E. Abbott Scholarship
Alice is the recipient of the 2018 M.E. Abbott Scholarship

The Bicuspid Aortic Foundation is pleased to announce that the 2018 M.E. Abbott Scholarship is awarded to Alice Lau, PhD.  Alice is a researcher in the Molecular Genetics and Cardiac Regeneration Laboratory led by Dr. Mona Nemer at the University of Ottawa.

Recently I spent some wonderful days with these dedicated and talented young researchers. It is hard to find the words to describe walking into the laboratory where they spend their days and often labor late into the night, pursuing answers to what are life and death questions for those with BAV and TAD. 

Lara and Alice in the Nemer Lab

They seek these answers in the mice families that are so similar to their human counterparts. Some have aortic valves with only two leaflets, others have all three leaflets. Some have aortic aneurysms, and some do not. Why do only some have the bicuspid valve? Why do some dissect while others do not? Why do some have a seemingly carefree life, and others get into serious trouble? These mice families have the same genetics. So what makes the differences?

If we could understand these things, we could understand better who is in the most danger in our human families, and so many other things we want to know.  

Their work with such tiny hearts is aided by microscope and computer displays

Through the generosity of so many, BAF is able to support their research through these scholarships. In doing so, we are all truly supporting ground breaking research. As they publish their results, we will share them with you.

Supporting these brilliant, young researchers,

Together, we are

Creating a Climate of Hope

~ Arlys Velebir

  This link gives background on why this scholarship

 is given in the name of pioneering physican  Dr .M.E. Abbott 

BAV Current Research - Is Anyone Trying to Understand Me?

Leonardo da Vinci's Drawing of BAV 

Thanks to the anatomy studies of Leonardo da Vinci, and the work of the great physicians Osler and Abbott, we know that BAV and the associated complications have plagued humanity for centuries. 

So where are we, in 2018, in terms of understanding BAVers and their families?



How Can We Truly Fix What We Don't Understand?

It still hurts when I remember how naively we repeated to ourselves and others what we were told in 1990 - that a BAV valve replacement was a "fix" for life! It was a "patch" perhaps, and it saved life at that time, but it was not a fix, which implies no further problems.

I Have BAV - Does Anyone Know Who I Am? 

Am I the one who will go through life relatively unscathed? Am I the one who will have my first surgery before the age of 20, my BAV leaking and my aorta bulging? Am I the one whose enlarged aorta won't grow for years and then abruptly balloon out in size? Will I develop volatile high blood pressure? Will my BAV calcify and narrow when in my 30's, my 40's, my 50's?

Tragically for some, who they are in terms of the impact of being born with BAV is known only after death, when an autopsy is performed.

I Have BAV - Is Anyone Trying to Understand Me?

Highlighting Researchers this September

Who are the researchers taking on the truly daunting challenges associated with understanding BAV individuals and families today? As part of September Awareness, this blog will highlight some of the more recent work.

Researchers in Japan are meticulously looking at multiple angles that are part of the mystery of aortic aneurysms in those with BAV and aortic valve stenosis. The first link is commentary by them about their work.

Bicuspid Aortic Valve-Associated Aortic Dilatation　― What Is the Mechanism of Bicuspid Aortopathy?  As they write in closing: "In summary, bicuspid aortopathy is a multifaceted heterogeneous disease with at least genetic and hemodynamic factors contributing (Figure).2,3 Although the usefulness of medical treatment for preventing bicuspid aortopathy (aortic aneurysm formation in BAV) is controversial,5 more vigorous basic and clinical research attempts like this6 can lead to the discovery of novel therapeutic interventions and optimum treatments."

Here is their  paper, which gives us a glimpse into the complexity they are exploring in seeking to understand the tissue of the BAV aorta in contrast to a trileaflet aortic valve aorta, and why the BAV aortic tissue may be fragile.

Activation of the AKT Pathway in the Ascending Aorta With Bicuspid Aortic Valve

Yes, BAV and aortic aneurysm research is challenging.

We appreciate those willing to take up the challenge, 

Creating a Climate of Hope,

~Arlys Velebir

Bicuspid Aortic Foundation

Questions in Search of Answers in 2018

Questions Without Answers

Why do some BAVers tear/rupture their aorta?

Why do some BAVers have aneurysms that do not tear or rupture?

Why are there BAV/aneurysm and  TAV/aneurysm in the same family?

Why do some BAVs calcify and narrow?

Why do some BAVs leak?

Why do some BAVs do both: calcify/narrow and leak?

Why do BAVers get infection (endocarditis) in their hearts? 
Why do some BAVers develop blood pressure issues?

Why are many BAVers so athletic and energetic?
Why do many BAVers (and their TAVer family members) have "delicate tissue", joints prone to injury, "bad eyes", and other issues through out their bodies?
Why can't my doctor tell me ......?

Why............?

Why............?

Why............?

There are so many unanswered questions when it comes to the individualized care that each person with BAV and their blood relatives should have.

As this year comes to a close, we invite you to support our search for answers. Many of those answers may be found in the mice families being studied at the University of Ottawa. With your help, the Bicuspid Aortic Foundation wishes to continue to support this vital work. Online donations through Razoo may be made here. 


Thank you for joining us in our search for answers.

Best wishes in 2018,

~ Arlys Velebir

                       Bicuspid Aortic Foundation 

Bicuspid Aortic Foundation Awards Scholarship to BAV Researcher

The Bicuspid Aortic Foundation is pleased to announce the awarding of our M. E. Abbott Scholarship to PhD candidate Lara Gharibeh, a student in the Molecular Genetics and Cardiac Regeneration Laboratory at the University of Ottawa.

 The M. E. Abbott Scholarship seeks to recognize those whose work today, in the pioneering excellence tradition of Dr. Abbott, carries on the search for answers to vital questions faced by families with bicuspid aortic valve.  

This full one year scholarship, effective September 1st, 2017, will provide support for the research project "Molecular mechanisms underlying BAV-associated aortopathy".  In the course of this research, an understanding of the cause and mechanism of valve calcification will be sought. In addition, the question of  the impact of valve geometry versus genetics on aortic aneurysm and rupture in response to stress will be examined. Both of these questions are critically important to BAV families.  It is our firm conviction that the ground breaking work in progress in this laboratory in Ottawa is vital to advancing knowledge, individualizing treatment, and thus promoting the well-being and longevity of individuals and families where bicuspid aortic valve is present. 

Diseased thoracic aorta

We are particularly pleased to support this work through funds given in memory of Charles Doherty, who tragically lost his life at the age of 34 due to complications from his bicuspid aortic valve.

We are also pleased that this scholarship begins with September, the month when we observe Thoracic Aortic Disease Awareness.

If you would like to help us support research like this in the future, please donate to the Bicuspid Aortic Foundation. 

Stay tuned for more updates on the Bicuspid Aortic Foundation's mission and programs!




 

Urgent Call to Support BAV Research

Introducing Some Special BAV Families 

I do not have any pictures of them to share. Perhaps you can imagine them. 

They seemed to have such active, busy lives. Until suddenly, unexpectedly, they died. "Spontaneous deaths" they were called.

When I heard their stories, I cried. 

Why did they die like this?

We are fortunate that someone looked so carefully inside, seeking to answer that question. In their hearts they found something we at the Foundation have come to know all too well, an aortic valve with only two leaflets.

Human Bicuspid
Aortic Valve

Yes, they all were from BAV families.

They reminded me of  many we have met over the years, fellow travelers along the lifelong journey with BAV.

Before going further, let me explain why they are so special. They are families of mice, engaged in research. They live in the Molecular Genetics and Cardiac Regeneration Laboratory at the University of Ottawa.  Please click on the name to visit this laboratory dedicated to understanding our hearts.

Mice? Yes, they are BAV mice, mice with specific, known, genetic abnormalities. They are the first in a laboratory to consistently have bicuspid aortic valves and so strikingly mirror our human experience.

Just like us, these BAV mice families are far from straight forward. Some family members have obvious BAV, some do not. Some suffer tragic complications and premature deaths, others do not.

Our Doctors Simply Do Not Know Enough Today
Today, so little is known that doctors cannot predict very well how severe the consequences will be in the lives of those in BAV families. This is why some of us discover with time that their predictions turn out to be incorrect.

Professor Mona Nemer and the researchers in her laboratory aim to change that! They are learning so much from these wonderful little creatures and their special hearts and bodies.

The most immediate impact from their research will be the identification of biomarkers, predictive tools that can be used to test for and prevent tragedies, to distinguish between those who will have a more normal life and those who face major risks and need individualized, proactive monitoring and care.


Someone Who Understands 
As I listened to Professor Nemer speak recently, I was thrilled to hear a scientifically-based, compassionate discussion that described the BAV challenge so well. I credit these mice for being amazing teachers, representing us so accurately to these also amazing and talented researchers who seek only to understand, and in understanding, help alleviate human suffering. They have just begun to shed light on the answers our doctors so desperately need. This even includes the labile blood pressure issues that plague some BAVers during their lifetimes.

You Can Help Too!

This is the first research effort that the Bicuspid Aortic Foundation has found so compelling that we are directly fundraising in support of it.

Every 12 seconds, somewhere in the world, a child is born with BAV. Today, I have fresh hope that a new day is dawning, and their future, and that of all those living today, need not be so uncertain.

The most powerful thing that we can do today is support Professor Nemer's work.

  

Please, click here to donate.

This holiday season, 

may you know the joy and peace 

that comes to those who give from the heart,

Creating a Climate of Hope.

~ Arlys Velebir

                          Bicuspid Aortic Foundation