"Bovine Arch" - Researching Another Aortic Mystery

Normal arch

More to the Aortic Mystery?
There are so many things not well understood about bicuspid aortic valve in individuals and families. Are there other aortic clues, beyond the abnormal aortic valve, that may be markers, important clues to aid in understanding each person? It is possible that one of those clues may be the aortic arch.

 "Bovine" Aortic Arch - Similar to Cows?
The aortic arch is the curve of the "candy cane".  There are three arteries that branch off from this curve delivering  blood to the head and upper body. Each of these arteries normally branch directly from the aorta, and each artery has its own separate opening, as pictured in the drawing on the right.

However, physicians have noticed that in some people their arch vessels are different. In medicine, the term "bovine arch" has been used to describe these differences.

Variation of the Arch Branches in People - Not Like Cows After All!
Bovine refers to cows, however, this is not an accurate description of what is seen in humans! The variation of arch branches in humans is not the same as that found in cows. Somehow, the name has persisted, although it is not accurate.

Here is a link to a paper that describes the "bovine arch" in more detail.

Bovine Aortic Arch Variant in Humans: Clarification of a Common Misnomer

For those who want to know whether or not they have a "bovine" aortic arch, it can be seen through CT and MRI scans, and may be described in the written reports of those tests. It is something which may be discussed with physicians in reviewing test results.

Please Support the Search for Answers
Those of us who volunteer with BAF know that the bovine arch is present in our families. We are very interested in understanding if this is also a useful marker, another malformation of the aorta that should be noted and understood more fully.

Some family members appear to have "normal" three-leaflet aortic valves, yet they develop aneurysms, "electrical" heart issues, and other issues in their bodies. They also have the bovine aortic arch. There is a great deal to explore further in the quest for answers and help.

The Bicuspid Aortic Foundation is supporting an effort to gather data about the arch variations present in those with bicuspid aortic valves. During these last days of 2018, looking forward to the new year to come, we invite you to join with us by supporting our search for answers. Your donations make this search for answers possible.

Online donations may be made through our MightyCause page.

Above all,

 we encourage everyone

to seek knowledge,

 to ask questions,

 and to never stop learning

 about bicuspid aortic valves and thoracic aortic disease. 

This is how lives are saved,

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

Unlocking the Mysteries - BAV and TAD September Awareness 2018

Still struggling with mysteries of the heart
  202 years since its invention,
 the stethoscope remains an important device
 for probing mysteries of the heart
   

"The practice of medicine is the struggle to unlock the mysteries within the body, to understand them in the hope of applying treatments to save life...."

This is my very own definition for the practice of medicine, reflective of the many years I have lived with struggling to understand and thwart BAV and TAD. I said this to a beloved cardiologist last year. He has been practicing for a very long time, and he did not disagree with me.

No one will ever convince me it is not a struggle. On the surface, what is known today was known 100 years ago. Do we have treatments now? Yes, but there is such a struggle to know what is happening, when and how to apply treatment, and will the treatment work . . . .?!

Too many times, there is no clear understanding. 

Too many times, there is suffering, injury, death. 

I was with one of our BAF board members recently for a consult with a new doctor. He remarked with astonishment that her medical records are a saga that rivals the novel War and Peace! So many different specialties, all searching for keys to understand her. We can only hope this particular specialist will be successful with his chapter of her story!

As September begins, I am looking forward to traveling to the University of Ottawa later this month, to visit the  Molecular Genetics and Cardiac Regeneration Laboratory . Dedicated to studying congenital heart defects, about half of their work is dedicated to unlocking the mysteries surrounding bicuspid aortic valves. They are co-located with the University's medical school and the Ottawa hospital. I am so grateful to be welcomed by them in our shared quest, our search for answers.

I invite you to share my visit to the University of Ottawa. Through this blog, I will have pictures, information, and stories to share. One thing I already know, I will be with those intensely focused on unlocking mysteries about the hearts and entire bodies of those born with BAV, and their trileaflet aortic valve family members too. I will be with those who understand the quest, the struggle, and are up for the challenge of this fight for life.

This September, 

there is no quest more worthy,

 no struggle more worthwhile,

 than seeking to unlock the mysteries

of BAV and TAD in our families,

Creating a Climate of Hope,

~ Arlys Velebir

Bicuspid Aortic Foundation