Aortic Valve Disease, Blood Flow, and the Brain!

Aortic Valve Disease: Breaking through the Complexity

 

What is happening to me?

Perhaps there is nothing more frightening than knowing our brain is failing us.

Early this year, an intelligent, capable woman underwent extensive neurological testing. Along with some transient visual symptoms, she had increasing difficulty finding words. Stroke was ruled out. Several physicians suspected the onset of dementia. Only one neurologist said a definitive no, this is not dementia.

A few months later, in a city far from home, she could not breathe. She found herself in a very busy ER, where ultimately physicians and surgeons were challenged to save her. They did!

Today, as she recovers at home from an emergent, high risk surgery to replace her failing “TAVR in SAVR” prosthetic valve, her brain is clearly much better. 

While in retrospect there is tremendous gratitude for her “miracle” surgery and recovery, coming this close to the precipice, putting her life into the hands of physicians far from home in another city, is never by choice. Not for the person. Not for the physicians who confront the crisis. 

What could be learned from this? Were her brain symptoms an early indicator of what became an emergency originating with her aortic valve?

The following recent publication is very timely regarding the use of widely available ultrasound to aid understanding of blood flow, not just at the proximity of the aortic valve, but as it continues through the aorta to the body, and particularly up to the brain. Clicking on the title below opens the full paper.

Method of Recording Reverse and Delayed Turbulent Blood Flow in an Obese Pediatric Patient with Congenital Aortic Stenosis

I share here corresponding author John Leighton’s comment to the Bicuspid Aortic Foundation: 

“Any new loss of cognitive function in a valve patient whether a child or an adult is cause for concern.” 

At the Bicuspid Aortic Foundation we know, from our lived experience with aortic valve disease, that shared examples such as this paper’s description of one 12 year old, may often shed light on the plight of many others who need help too. 

The Bicuspid Aortic Foundation thanks the authors of this paper for their interest in and work on behalf of those with impaired heart valve function.

Piercing the mystery that clouds their lives,

shining light on their blood flow, 

Creating a Climate of Hope,

~Arlys Velebir

                     Bicuspid Aortic Foundation

Post Script

Why was surgery the only option, instead of a TAVR in TAVR in SAVR? Quite simply, the type of TAVR valve in her heart did not allow insertion of another TAVR without blocking the blood flow to her heart. Surgery was the only option for a new aortic valve. The Bicuspid Aortic Foundation is very grateful for those skilled hands that perform these complex surgeries, extending the lives of those born with bicuspid aortic valves.

BAV in 2022 - We've Come a Long Way, Still a Long Way to Go....

Heart Month 2022 

Sacagawea - Arduous Journey 
Beautifully portrayed here
along the shores of the Missouri,
 she inspires my own journey! 
We can do this!

It is not surprising that a recent mailing from a local hospital features an article about the heart. What is wonderfully amazing to me is that this is not an article about coronary artery disease, it is a BAV aneurysm surgery story - a hopeful account of a man and his family receiving care locally. I am joyfully amazed! 

We have indeed come a long way since 1990, when my late husband had his first surgery in that same hospital, where his BAV was replaced. 

Along with the article is a picture of a healthy, strong man and his wife, a variation of myself and my late husband. He is about the same age as my husband was when his BAV took center stage, demanding attention!

Highlights of their story:

• Diagnosed with BAV about eight years earlier, his cardiologist had "followed" him since 2012
• On July 4th, 2021, while on vacation, without warning his heart began to race; paramedics were called, he was experiencing SVT, and received local care
• Returning home, further testing revealed severe aortic stenosis, and he met his surgeon
• His BAV and ascending aorta were replaced in September 2021
• After surgery, he also needed a pacemaker, which was implanted before he went home
• They were told that this is genetic, and his children underwent screening 
• He is back to his work, interests, and looking forward to traveling; the article quotes him as saying he feels great 

We've Come A Long Way

In 1990, valve and bypass heart surgeries were being done in this relatively small hospital, which has grown significantly since then. Our experience:

• Unusual for him, my husband was very sick, abruptly, expressed by pneumonia and heart failure
• The pneumonia thankfully was treated successfully
• Despite a heart murmur from childhood, after testing we heard the words "bicuspid aortic valve" for the first time
• Nothing was said to us about his aorta, although his pre-surgery catheterization report documents "post stenotic dilatation" of his aorta; dimensions of his aorta not noted
• His BAV stenosis was "critical", his left ventricle had thickened and distorted ("boot shaped")
• Adding to the drama, the local paper ran stories about a certain mechanical valve breaking inside people's hearts 
• His surgeon safely replaced his extremely calcified BAV without particles escaping and causing a stroke 
• Surgery gave him a mechanical valve and his life
• We were told he was "fixed for life", with no restrictions or changes other than cautions about warfarin interactions, keeping his blood coagulation within range (measured in seconds, later by INR), and warnings about the risk of infection (endocarditis); he resumed his favorite exercise regimen, lifting heavy weights
• Generally, he was not viewed as unusual in any way because he had a BAV; BAV persons were treated the same as any other aortic valve requiring surgery at that time. His blood was carefully followed, the valve less so, and the aorta not at all.

When eleven years later, a large aneurysm above that mechanical aortic valve was fortuitously discovered, icy fear gripped me. I knew at that time if that aneurysm caused a crisis, the local hospital could not handle it, even if he made it there....  It was not easy, but we informed ourselves (online), and made a list of major centers performing ascending aortic surgery in the United States. Mercifully, the integrity of his aorta was not breached and highly successful aortic surgery gave him his life, again.

Yes, It Can Be an Arduous Journey

Some have more complications than others. Only with time will each person's journey unfold. They need individualized care. For many, it is both an individual and a family journey. We celebrate every advancement, every victory, but must remain vigilant against the unknown, the unplanned, the dangers....

Still a Long Way to Go

There are many frontiers to explore regarding BAV persons and their trileaflet family members. I hope many drawn to the heart early in the careers will be inspired to press forward deeper into these frontiers. This is a large population with many that need you.

Focusing here just on BAV and aortic stenosis, understanding when they need intervention can be challenging. "Following" BAV people is not trivial. This man, like my late husband, abruptly "got into trouble" with his BAV stenosis. This has been a trend in my family, and others I know well. Mechanisms for understanding them better, especially when they do not express any significant symptoms/warning signs to alert anyone, is an area ripe with opportunity. His cardiologist remarked at the time on how well my husband's heart muscle recovered after that first aortic valve surgery. Not everyone is so fortunate.

Better indicators for those with BAV would facilitate well-timed, proactive aortic valve interventions - not too soon and not too late - enabling them to fully achieve their potential. So many with BAV are  "youthful" regardless of their age, active and gifted in so many ways.

Along with optimal timing of aortic valve intervention, there is choosing the optimal aortic valve solution for each one. The article does not mention which type of valve replaced this man's BAV. I remember the first time I heard it said "There are no perfect valves" for replacement! Importantly, this man's prosthetic aortic valve, pacemaker, and repaired aorta position him for life - life with ongoing, lifelong care following this first surgery. Reflecting from my perspective now, with the passing of time, I know just how young this man truly is.  For him and his family, and the many, many others just like them, where ever they may be in the world,

May your future journey be safe,

smooth, and long!

When there are bumps in the road,

always remember

we can do this!

Making progress together,

Creating a Climate of Hope,

~Arlys Velebir, Bicuspid Aortic Foundation

When Sunset Comes too Soon - Remembering a Woman with BAV

Pacific Sunset 

This is written in remembrance of Julie . . . a wife, mother, grandmother, and so much more... I am calling her Julie here, not her real name, to preserve her privacy and that of her family.

She passed away suddenly, unexpectedly, about a month ago, on a day in early January 2022, not very long after saying goodbye to her own fragile, elderly mother in December.

She had no inkling that her own life would not be such a long one, that it would end suddenly that January day. Seemingly neither did anyone else. 

Her husband of over forty years was right there with her when her heart stopped, never to beat again despite all efforts. His love for her and their family enabled him, despite the tremendous shock and grief, to obtain the best private autopsy available. 

Among the findings listed, the pathologist examining her heart found her severely calcified stenotic bicuspid aortic valve and the enlarged left ventricle that had worked so hard to push her blood out to her body.

No one, not Julie, not any of the physicians she had ever seen, knew this about her.

There is one mention in her medical records, in 2018, of a heart murmur - seemingly heard just that once. No echocardiogram was done.

Other than being a "little tired" sometimes, so easily dismissed, there were no symptoms that might have prompted further investigation of her heart.

The autopsy report includes advice to her family to be screened since other blood relatives may be affected - a lifesaving gift to this family from their dearly beloved mother and courageous father, who must carry on without his soulmate. Along with Julie's BAV AS (aortic stenosis), all of the findings the autopsy reveals will help her family understand as much as possible about what caused her sudden death that day. 

It is not the first time I have spoken with someone shocked and grief-stricken by the sudden death of their loved one, where the bicuspid aortic valve, not the aorta is implicated.  Sometimes, as in Chuck Doherty's Sudden Death, Age 34, the presence of a bicuspid aortic valve was known to them and their physicians, but for others like Julie and her family, it remained unknown until after death.

May these deaths inspire us all to continue pressing for diagnosis in the living and greater understanding of those with BAV.

This Heart Month 2022,

 we remember Julie,

 a very special woman,

born with a bicuspid aortic valve, 

whose sun has set too soon. 

~Arlys Velebir,  Bicuspid Aortic Foundation

 

BAV Lifelong Care - Carrie Mettler's Journey - 2016 to 2021

May 2021 - Life is good!

Background - Carrie's BAV Discovered in Early 1990's

Carrie was born with BAV, but she did not know this until she volunteered to be a guinea pig for a new echocardiogram machine in the early 1990's. There it was - a two-leaflet aortic valve! The next year, after her sister's diagnosis included not just BAV but an ascending aortic aneurysm, Carrie had another echo which showed that her ascending aorta was enlarged also.  

Carrie already had begun her heart journey with the implantation of her first pacemaker in 1989, when she was only 29 years old. In the following years, her pacemaker journey alone has required multiple interventions due to infection, broken pacing leads, and device upgrades. In 2014, open heart surgery was required to address complications caused by pacemaker leads! Carrie had developed Superior Vena Cava (SVC) syndrome, which is obstruction of the blood flow though the superior vena cava. The cause was old pacemaker leads located there and scarring that had developed in this blood vessel over time. During surgery, Carrie's own pericardial tissue was used to enlarge her right atrium and patch her superior vena cava, and the abandoned pacemaker leads were removed.

Here, we focus especially on the most recent five years of Carrie's journey, from 2016 to the present. Carrie began experiencing chest pain/discomfort that year, causing her to seek out the expertise of the Cleveland Clinic. The remainder of this post are are in Carrie's voice, with paragraph captions added.

October 28, 2016 - Chest Pain Prompts a Visit to Cleveland

So off I went for evaluation at Cleveland Clinic.  I flew to Chicago where my little sister, Theresa, picked me up.  We then took an all-day road trip to Ohio.  We spent several days there.  I had an echocardiogram, a CT, labs and EKG.  Once all the tests were completed we met with a cardiologist as well as Dr. Eric Roselli, a cardiothoracic surgeon.  Dr. Roselli viewed the CT result with us, where we were able to view the actual scan.  My aorta was stable and they all felt that it was reasonable for me to continue on with the watch and wait approach.  The chest pain issue was still unsolved so I just had to back off on my running and switch to walking.

 So, over the next several years I kept up to date with my local cardiologist, where serial imaging of my aorta and bicuspid aortic valve remained relatively stable.  Chest discomfort remains unsolved.

March 2019 - Diving Competition, Bee Sting and  Breast Cancer

During a dock diving competition where my little dachshund was competing I was stung by a bee on my left wrist.  Initially the sting was painful but I continued on with the day just feeling tired.  Then I developed a large localized reaction which spread up past my elbow.  After seeing my primary care provider he instructed me that if the redness continued going up my arm that I should go to the ER.  I did end up going to the Emergency Room where I was given appropriate medications and steroids.  The “cellulitis” finally resolved.  It was also deemed that I am allergic to bee venom.

Bee sting reaction!

But something wasn’t right.  I just kept feeling like I had an ache in my left armpit area for a while…then I started feeling pain in my left breast. 

I was watching a nightly national news program one evening and they aired a segment about women with fibrous breast tissue should be screened with 3D mammography.  After seeing this and knowing my mother passed away after a battle with metastatic triple negative breast cancer…I called my PCP and asked if he would order this mammogram for me. 

 I went in for the mammogram the end of April.  The next day my doctor’s office called to tell me that I had a suspicious lesion in my left breast and that I will be scheduled for an ultrasound.   After the ultrasound my PCP called me to let me know I needed to have a biopsy. 

The biopsy was done on May 2^nd.  Four days later, I got the call…You have cancer!  My knees buckled and I felt sick and so frightened.  I got my wits together and went out to where my husband was working in our yard.  It was all so surreal.  Right up there with when I found out I had a brain aneurysm.  All of the results came back, and I indeed had the same cancer that my mother had.  Triple negative breast cancer.

Cancer Surgery and Chemo

There were many appointments and consultations, then finally I had surgery to remove both breasts June 24, 2019.  I spent a few days in the hospital and had the support of my husband, Vic, my sister Theresa and several of my dearest friends.  I actually felt pretty well and was optimistic as no cancer was found in my lymph nodes and the tumor wasn’t too large.  But it was still considered a high grade tumor and I had to be scheduled for 16 weeks of chemotherapy.   Prior to this I had to have a pre-chemo echo…where everything appeared stable.

After discussing everything with my oncologist and surgeon they agreed that I could take the RV trip we planned to our favorite park on the Metolius River in Oregon.  I was very grateful for this time to reflect and be with my husband and my sister by heart, Judi and her husband Greg.  We were also joined by two more dear friends one of which was a retired nurse.  I was in good hands and I felt the trip to be restorative.  

January 2020 - Last chemo treatment

August 5^th 2019     I received my first round of chemo.  Judi was with me for every infusion from then on.  I developed most of the nasty side effects.  Anemia, neutropenia, oral thrush, nausea and hair loss.  We had to postpone several treatments until my labs rebounded.  I also had to have several blood transfusions. 

I was pretty much exhausted most of the time but pushed myself to walk my dogs as much as possible.    In October I had another echo, and my cardiologist told my aortic valve was now mildly stenotic.  Fast forward to December and the aortic valve showed moderate stenosis.  I became more fatigued and short of breath and even after chemo ended in January of 2020 I still could not regain my stamina.  My cardiologist recommend that I work out but I could barely climb a flight of stairs.

 March 2020 - COVID, Fatigue, BAV Severe Stenosis, A New Door Opens!

The Covid 19 Pandemic lock down started.  I was supposed to have the tissue expanders removed and proceed with breast reconstructive surgery.  This procedure was deemed elective and my case was cancelled indefinitely.  I still felt short of breath, and fatigued along with exertional chest discomfort.  Not to mention how uncomfortable the tissue expanders were. Then in May my cardiologist ordered another echo.  My aortic valve stenosis was now severe.  I had mild swelling of my ankles and was becoming depressed and very frustrated. 

One day in August, my husband and I were driving down our road and stopped in to see our relatives that were out in their yard.  This was one of those divine intervention moments.   You see, this family member also has severe aortic stenosis!  Two of us, living on the same road, with the same problem. We talked for a while, and she told me that she had become discouraged with her local cardiologists and finally went to UC Davis in Sacramento, where she felt she receives superior attention.  I told her that I was also frustrated with my care and that my cardiologist of many years was set to retire.  I asked her to get me some contact information the next time she went.  A few days later she stopped by with the TAVR (Transcatheter Aortic Valve Replacement) Nurse coordinator’s card and said “she knows you”!  I looked at the name on the card and couldn’t believe that it was someone I used to work with in a cardiology office where I worked for many years.  She actually helped train me in pacemaker and ICD follow up….and we even had golfed together!  She was expecting my call!  I felt so relieved and thankful! 

 September 1^st 2020 - BAV Needs Replacing, Stable Aorta

Carrie's aorta 
2016 at Cleveland Clinic

Judi picked me up and off we went to UC Davis, where I had another echo and was evaluated by the cardiologist specializing in TAVR. I was also evaluated by a cardiothoracic surgeon and many medical students.

They all agreed that my aortic valve needed to be replaced, but they needed more time to go over the echocardiogram results and the recent CT scan.  Because I had previous open heart surgery for SVC syndrome and also have an ascending aortic aneurysm, I was considered high risk.

I felt very comfortable and confident in my new care team, knowing they would take time to make a treatment plan. Two days later I received a call from the TAVR nurse.  They determined that I was a candidate for TAVR and that my aorta was considered stable. 

 October 5, 2020 - TAVR in Native BAV

I had a transcatheter aortic valve replacement (TAVR) using an Edwards Lifesciences Bovine valve.  Everything went very well and I felt the difference immediately!  My physicians are optimistic that with my new valve, some of the pressure will be taken off of my ascending aorta.  We will continue to monitor my prosthetic valve along with my aneurysm. 

June 2021 - Blessed in the Face of Adversity

Today, I feel very well!  I was finally able to have my breast reconstructive surgery… also at UC Davis.  In fact, I have transferred all of my care to UCD.  My care has been amazing!  Yes the past few years have been a challenge…as they have for all…but again, I would not change a thing.

Feeling blessed in the face of adversity is truly a gift…and I will always be thankful for the bee and the cow that helped save my life! 

Carrie has been with us at BAF since our beginning days,

 and it is our privilege to walk with her always. 

Thank you, Carrie,

 for once again sharing your courage and strength with the world,

and through each experience,

 Creating a Climate of Hope

~Arlys Velebir

                    Bicuspid Aortic Foundation

Also see Carrie Mettler - A Wonderful Athlete with BAV   and 

Carrie in 2016 - Seeking Opinions for a Complex Situation

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