Genetics and Bicuspid Aortic Valve Families

Bicuspid aortic valves have been known for centuries, appearing in the anatomy studies of Leonardo di Vinci. 

The advent of antibiotics, open heart surgery, and aortic surgery brought hope to those born with bicuspid aortic valves and their families.

However, there are still many questions that have no answers. Recently it was announced that a group of centers around the world are joining together to study the genetics of the bicuspid aortic valve. You can read more about it here, the BAV Genetics Newsletter.

Despite how much progress has been made, there is still pain, suffering, and death experienced in BAV families. The Bicuspid Aortic Foundation looks forward to the day when there are more answers, more understanding, and a better life for the millions who live with BAV and their tri-leaflet aortic valve family members who may be affected by aortic aneurysm and dissection.

We cannot change the past,

but we can change the future!

The collaboration surrounding

 the BAV Genetics work is an important beginning,

 creating a climate of hope.

Victory Over Aortic Aneurysm - the OTHER KILLER in the Chest

Something Is Terribly Wrong!

Sandra on Barker Mountain, 2012

Sandra Croff knew something was wrong, but no one had been able to find it. She had tremendous fatigue, shortness of breath, chest pain, and at times felt her heart doing flip flops. 

After seemingly endless doctor visits and tests, she was told that her heart was fine. She was just suffering from post menopausal symptoms and anxiety.

Among those many tests, Sandra had a simple chest x-ray. She remembers looking at it with the doctor, and asking him "What is that?" When told it was her aorta, she asked the doctor if it should be so large. The doctor dismissed it, saying her aorta was fine, and proceeded to tell her she must have fibromyalgia. Sandra firmly told the doctor, "I do not." She turned and left that office, disappointed again. 

Sandra remembers one particular day very well. She had horrible pain on the left side of her chest, going through to her back, and into her arm. It lasted for about three hours. Sandra did not go to the ER that day, because based on past experience she felt no one there would believe or help her. But she knew she had to keep looking for answers, because others in her family had died suddenly, supposedly of massive heart attacks.  She wondered if her own life would be cut short before she found anyone to help her. And she also wondered, even if she lived, if she would ever feel well enough to do even simple things she loved again without labored breathing and a stabbing, burning feeling in her chest. 

Sandra, 7 days after aortic surgery

In 2010, Sandra made a call to a long-time family friend. She had heard that he had some kind of heart surgery, and she wanted to know the details. That family friend was Bob Gies, and before long Sandra traveled to the same aortic treatment program. There she had the testing she needed. It showed that Sandra had an aortic aneurysm in her chest. She began to make plans for surgery.

Something is Now Very Right!
Sandra now has her life back! Always active, Sandra proved that her problems were not related to declining hormones, anxiety, or fibromyalgia, but due to faulty "plumbing" in her chest. Below, in her own words, Sandra describes hiking Barker Mountain recently.

Hiking Barker Mountain, 2011

Hiking Barker Mountain, September 2012, in Sandra's Own Words

I was in Montana this week and hiked to the top of Barker Mountain again. The day started out at a cool 42 degrees, and some of the rooftops had frost on them.  My hike began at the bottom of the mountain, just where the road splits and Green Creek crosses.  Arriving at the starting point, I had to get my boots on, so that I could embark on this steep outing. It was about 11:30 am as I started to walk and also take pictures of the new survey, being done by the Forest Service. 

As I crossed Galena Creek a couple of times, I could feel the steep grade tasking my body, not only my lungs but my legs.  I felt my heart beating faster and louder.  I am from a part of the country that is only about 150' above sea level.  These people in Montana are like mountain goats, as far as their lungs and their capability to walk this steep terrain!  I guess I am a flat lander? When I reached one stretch that is much steeper than the rest, I would stop briefly and have a drink of water.  

Much further up the mountain, there is a long stretch where the cool breeze comes down the narrow roadway.  It refreshed my mind, and also rejuvenated my body.  The breeze along with the sweet smell of the pines is just beyond description.  It is the type of breeze that makes you smile with pleasure.  Oh, how I love the breeze!  As a child I lived in Southern California, and in the morning it would be cool to chilly, and the breeze would come from the Pacific Ocean to energize you. The last point where you feel this breeze on the mountain is situated just below where the sun hits the side hill.  From that point on you are in the sun completely.  Knowing this is the last pull to get to the top, I am telling myself, "You are almost there!" and "Get moving!". 

After getting to the top, a large rock was the perfect place for lunch.  I was out of steam at that point! After eating and drinking water, it was time to start the descent. Of course this is the easiest part of the hike, however the ground has unstable rock on it and care is needed to avoid sliding.

It was indeed a body and mind builder.  On the way down, a drink of fresh, cool water from Daisy Creek was indescribable.  This small creek comes from higher up the mountain and is the best water around.  It is very cold, and thirst-quenching. 

This was the second time I have hiked this mountain since I had my aortic surgery. 
Of course, being 64 years does not say you will be able to do everything you desire but your mind allows you to achieve what you want, especially if your heart is fit. It did my heart good to make this hike again this year. As I was driving down the road, I was able to see the mountain in my rear view mirror, and all I could think of was next year's hike!

Robby Benson Shares His Life with Bicuspid Aortic Valve Disease

From the first words of the Preface, I felt that I knew Robby Benson, although we have never met.

Is it because he is almost blind

 without his contact lenses?

Is it because a childhood
heart murmur  was not
"innocent" after all?

Is it because a loving young 
couple with a small child

faced life-and-death surgery
 much too soon?

Is it because it hurt so much
 when those chest tubes were pulled?

Is it because no one listened, 

no one believed him
after his second surgery, 

when he could not breathe?

Is it because his chest 

has been opened four times?

Is it because they did not hold his hand, 

did not comfort him, until finally,
there was someone with compassion
during that fourth surgery?

Is it because of the moving description of
a life-long quest for help,
searching for a place of hope,
by someone born 
with a bicuspid aortic valve?

Yes, it is because of all those things and more. 

You see, my husband was born with a bicuspid aortic valve, too. He has had three surgeries. And over the years, through the Bicuspid Aortic Foundation I have met many others. And yes, they are all very special. They are active, vibrant, gifted men, women, and children, with something special in their hearts. Their aortic valve has only two leaflets, and often their aorta is larger than normal, potentially bulging until it becomes an aneurysm. Their family members, with all three aortic leaflets, may be at risk of aneurysms too. Not everyone has the same characteristics, but some things, including the near-blindness, are not uncommon. On the Foundation website page, Bicuspid Aortic Valve, we describe these characteristics under "The Big Picture". 

They can live extraordinary lives,

 making wonderful contributions to our world.

 But they also need help, they need hope.

Here are links to Robby's book:

I'm Not Dead . . . Yet! on iTunes

I'm Not Dead . . . Yet! in paperback.

I'm Not Dead . . . Yet! on Amazon

Thank you, Robby, for opening your heart and sharing your life,

Creating a climate of hope,

Arlys Velebir

President and Chairman

Bicuspid Aortic Foundation

"In Our Hands" - Outcomes of Surgery

"In Our Hands"

When surgeons speak about their results, they often use the phrase "in our hands", graciously crediting the entire surgical team. 

Their patients think a great deal about hands also, more specifically about one pair of hands, the hands of the surgeon. 

We wonder if surgeons realize how much we look at their hands when we meet them. Our minds are racing - are these the right hands to open my chest, touch my heart, replace my valve, remove my bulging aorta? Can I trust these hands?

Practice Makes Perfect
Common sayings are rooted in practical life experience, and the phrase "practice makes perfect" is no exception. The more we do something, the better we get!

Outcomes of Aortic Valve Replacement Surgery
In 2003, the New England Journal of Medicine published a special article, Surgeon Volume and Operative Mortality in the United States.  It was a report on the outcomes of 8 surgical procedures in Medicare patients. One of  those procedures, aortic valve replacement, is important to those with aortic disease. There was further discussion about it in this article also, High surgical volume equals better patient outcomes. Looking at a chart in the NE Journal article, (Table 2), the affect on outcome of the hospital's volume for aortic valve replacement was 0%. The affect of the surgeon's volume on outcome was 100%. 

In other words, it was all about the surgeon's hands.  

Asking Questions

That is why it is so important to ask certain questions of the surgeon. Make a list! How many bicuspid (or trileaflet) aortic valves have you replaced (or repaired) this year? Last year? Last five years?  How many aortic aneurym procedures? How many of this exact procedure did you do this year ( last year, last five years, etc.)? (Bypass results are not of interest unless bypass surgery is needed, so be careful to avoid general totals of all heart surgery.) How many people died in the hospital? How many died within 30 days? How many were injured or had complications? What were they? How many had infection? Bleeding? How many needed permanent pacemakers after surgery? How many needed heart medications long term that they did not need before surgery? The Foundation Support Page has additional information that may be helpful.

Listening Carefully to the Answers

The Foundation has heard from some patients who believe they did not receive clear, straight forward answers. Clear communication can be difficult in many settings, but especially so when talking about your own major surgery. Take someone with you. 

For example, if you ask how long a certain valve has lasted in others, listen carefully for general answers such as "I have never had to take one out." Follow up with more questions. Find out if the surgeon is talking about a clinical trial that has been going on for a few months, or a valve that has been used for many years with an established track record. That background can put a whole new meaning around the word "never".

Do your best to avoid things like these that have happened to others:

• A woman did not realize she was part of a clinical trial until the hospital contacted her months later for a "free" echo of her prosthetic aortic valve.
• A man arrived home after surgery thinking he had received a certain kind of tissue valve. He had specifically discussed and requested that kind of tissue valve when talking with the surgeon. He was more than a little surprised to discover later that in his chest was a different kind of tissue valve, from a different manufacturer. No one had told him while he was in the hospital. 
• A man, still in the hospital, was shocked when the technician told him during his echo that he had a beautiful mechanical valve. He and his family were sure he had requested tissue. No one had told him anything about receiving a mechanical valve until the technician made that comment. If there were technical reasons for the mechanical, no one had explained it to him or his family.
• A woman thought that her ascending aortic aneurysm was replaced with Dacron. When she began to have problems a few months later, in reading her surgery report she discovered that Dacron was not used at all. Her aorta had simply been "shortened". It put her in life-threatening jeopardy as the stitches holding her stretched aorta pulled away from  a newly implanted valve.
• A man who had previously had his bicuspid aortic valve replaced required another surgery for a large ascending aortic aneurysm. When opening his chest, his aorta was punctured, causing massive, uncontrolled bleeding. He survived the crisis, but after surgery contracted numerous infections. After fighting for many weeks in the hospital, he lost his battle.

Would it have been different for them in other hands? It is an important question to ponder. 

Surgeon's Statistics

Statistics may be available if you search for them. Some states provide a public database of surgical results, however those results may only be for the most common heart surgery performed, bypass surgery. Search and see what you find.

Grateful for Pioneering Hands

Dr. Randall Griepp and Dr. Sharo Raissi

Dr. Randall Griepp, Dr. Teruhisa Kazui, Dr. Sharo Raissi

The phrase "in our hands" takes on special meaning as we think of the great pioneers in aortic surgery.  Dr. Randall Griepp for many years has advanced treatment of the aorta in the chest. His hands have pioneered many lifesaving procedures, taking on the most difficult challenges in the chest from the early days of heart transplants to circulatory arrest and the aorta.

Under his guidance, Mount Sinai developed a rich data resource of results over the years, forming the basis of many important, highly regarded papers on thoracic aortic disease.



The Foundation is grateful for Dr. Griepp's work, and that of other aortic surgeons we have honored, Dr. Nicholas Kouchoukos, and Dr. Teruhisa Kazui. Their work has saved many lives around the world.

Arlys Velebir and Dr. Nicholas Kouchoukos

When it comes time for surgery, may we all do our best to find expert, skilled hands in which to entrust our lives.

Choosing your Doctors and Hospitals

 

Give a man a fish, and he will eat for a day.

We Have Something in Common
In some ways we are alike, in others we are different. But we all have something special in common in our chests - aortic valve disease, aortic aneurysm, aortic dissection. Sometimes, we have brain aneurysms too.

And so, we have something else in common.

 Decisions about who to entrust with our medical care.

Critical decisions.

Too critical to rely on a simple list of names. 

My Family Needs Help! Who Is the Best?
Like most people, we turned to local physicians when my husband became ill the first time. We learned that he was in heart failure due to a severely narrowed bicuspid aortic valve. At that time, we had no way of researching our options.

We simply went from the internist to the cardiologist, the cardiologist to the surgeon. You may find it hard to believe, but we did not even meet the man who would open his chest and touch my husband's heart until the night before surgery, already admitted to the hospital.

Years later, the internet had emerged when the aneurysm was discovered in his chest. This time I knew there was no one in the local community equipped to understand and help. But there was still very limited information. There were just scattered crumbs along the way that we used to reach the hands of a skilled aortic expert.

As I write this in 2012, we still do not have all the tools we need to help families like my own research aortic disease in the chest. But we do have some - and we can use them to find help.

Researching Your Options Learning to Fish!
The Foundation is often asked about finding physicians with expertise in aortic disease in the chest. Until recently there have not been many options - just a handful of major centers in the US pioneered aortic surgery over the years, while heart surgeries in most communities were bypass surgery, along with some heart valves.

When it came to bicuspid aortic valves, it was considered simple, something that did not need specialized attention. That is just beginning to change.

This is where the fishing lessons come in - we all need to learn how to find the medical expertise that can help ourselves and our families. It will continue to evolve, new expertise and capabilities will emerge. How will we know who to trust with our lives? It is not as simple as a list of names. We need to do our homework. The Bicuspid Aortic Foundation has updated it's  Support Community Page - there are some ideas there to help you!

                             Teach a man to fish, and he will eat for a lifetime.                    

Bob Gies Learned to Fish and You Can Too!
Look carefully and you will see the fish on Bob's line in those clear Montana waters! When he began to have symptoms, Bob visited several cardiologist and surgeon offices, looking for help, not satisfied with the answers.

Today, he has both local care and follow up as needed with a specialized bicuspid aortic valve program. But he had to search to find it!

Bob has care not just for one day, but for a lifetime.

He knows how to be an active partner in his own health.

When Bob approached the Bicuspid Aortic Foundation, he did not just receive a fish for one day. He learned to fish for a life time. Today, he volunteers with the Foundation, reaching out to others. He knows they too can learn to fish!

This is an important topic for us all. Please check back for additional future stories to help you in your search.

Best wishes from my family to you and yours,
Arlys Velebir
President and Chairman
Bicuspid Aortic Foundation