The Heart of a Man - Angelo's BAV Diagnosis

"I am writing to you because I simply don’t know where else to turn." 

On any given day, somewhere in the world, a man born with a bicuspid aortic valve learns about it for the first time. 

Why a man? Because BAV is up to 3 times more common in men than women. What is it like for this man, typically healthy, with little need for visits to doctors' offices? 

Angelo and his wife, Australians,  visited with some of us in southern California
Arlys Velebir, Mary Houchin, Richard Houchin, Angelo, Marie, Dr. Sharo Raissi

Here we share one man's experience. Angelo Doukas has given us permission to share the letters he wrote to the Bicuspid Aortic Foundation shortly after his diagnosis. We have removed a few personal details and added subtitles, but the following, mainly untouched,  is Angelo's beautifully written account of his experience .

First Ever, Routine Heart Check

Just over one week ago, a routine heart check (the first I have ever done in my life) revealed that I have a bicuspid aortic valve and aneurysm of the ascending aorta.

My cardiologist, who I had just met, explained what this meant and showed me the ultrasound images.  He explained that a normal aorta is about 3.5 cm and that when my aneurism grows from its current 4.7 cm to 5 cm, surgery will be required.  He explained how the aortic valve is supposed to operate and how mine does, how the condition has familial links, and so on.  He asked to see me again in six months.

     

I think I will always remember his parting words for the rest of my life:  “nothing will happen to you in the immediate future, but it’s a problem”.  I’m not used to hearing those words.

Shock

I sat in my car afterwards in a daze, not quite sure what this was all about but knowing that it was serious.  I was in shock, but not yet emotional because I didn’t know enough about the condition to form any opinions.  

I came home, started researching on the internet and came across your website.  I read about the condition itself (I still can’t bring myself to use the term “disease”) and then read your stories of hope.  That’s when I became emotional. 

In a single day, my life completely changed.  Until that day, I was a healthy 55 year old who always looked after himself.  I am a vegan, I exercise, have never smoked, have very little stress in my life and a wonderful, supportive family.  My parents are still alive and well, and I looked forward to a healthy old age.

My Life Will Go On!

One week later, I am still emotional, but my focus has changed.  Your website and a follow up discussion with my family doctor have reassured me that my condition does not mean an end to my life.  It will never be the same, but it will not end.  If nothing else, I’m grateful that I’ve reached this age without symptoms and without requiring surgery.  I’m also grateful I discovered the condition at 55 years of age.  I have enough time to mentally prepare for the challenges ahead, and I have lived my life until this point in time without the burden of knowing what lay ahead!     

A Father's Heart

But as I said, my focus has changed.  This week I’ve been thinking of my two children, both of whom are in their late twenties.  My cardiologist (I am also struggling to say “my cardiologist”) has strongly recommended that my children are checked.  I know this is the right thing to do and have told them they should do it.  But I live in fear that one or both of them have this condition.  Just the thought of them having to undergo a future procedure is enough to weaken me at the knees. 

When I broke the news to my family doctor he looked me in the eye and said “I would much rather be telling you that you had this condition rather than cancer,  or a neurological condition, or an autoimmune disease”.  His words were comforting at the time, and remain so, but I can’t help but reflect on the fact that none of these conditions necessarily involves the rest of the family.

You have mentioned that one of the worst things about BAV is that it’s a silent killer because healthy people are blissfully unaware they have it.  I would argue that the worst thing is the familial link because of the guilt and emotions and repercussions that result from it. Your web site talks a lot about frail aortas, but right now I am feeling so emotionally frail thinking about my children that I often break into tears.

Going Back for More Information

Now that I am much better informed, I have booked another appointment with my cardiologist for early next week (there was no way I was going to wait six months!) to have some of my questions answered.   I will also take my wife with me, because I would like her to hear everything first hand.

After the Second Cardiologist Visit 

 He (cardiologist) had asked me to come back in six months’ time, so he was very surprised to see me.  I had booked the appointment without him knowing!  I think he was genuinely concerned that he had created so much anxiety in me, so he gave me as much time as I wanted.

I feel so much better after this second visit, for two reasons.  Firstly, it appears that my bicuspid aortic valve is in excellent shape and, at 55 years of age, is still performing as well as a normal tricuspid valve (no abnormal leakage, etc.) and could continue to do so indefinitely.  My wife can verify his exact words: “if the rest of your body was up to it, you could compete in the Olympic Games”.

Angelo chatting with Dr. Sharo Raissi
in southern California

 Although I have no intention or desire to compete in the Olympic Games, it was music to my ears.  He reminded me that he had made that point in our first session and, frankly, I believe he had.  But so many arrows were being thrown at me from all directions that I was only hearing the bad news.

Secondly, my aneurysm is 4.6 cm, not 4.7 cm.  Not a big difference, but I’ll take every millimetre I can get.  He mentioned that he had many patients (one of them was actually in the waiting room) who stayed on this size for many years.

In summary, your lovely letter, in combination with this second visit, has put me in a much better state of mind.  My fear about requiring imminent surgery has subsided, and I am more confident that surgery, at least initially, would only be required for the aneurysm and not the valve.

Believe me, I am not being complacent, nor am I taking anything for granted.  But as you so correctly pointed out, at least now I know a little more about what’s inside me, and I can work with my cardiologist to monitor the problem and act on it at the appropriate time.

My only remaining concern relates to my children.  I have advised both of them to have a test and, at least for the foreseeable future, I will now leave it up to them.

Thank you so much, Angelo, for allowing us to share this. I am sure it will help many  who are learning for the first time that they were born with BAV. 

                                                                                 Best wishes,

                                                                                 Arlys Velebir

                                                                                 BAF President

Bicuspid Aortic Valve and Aneurysms - Ten Years Later

Doug in September 2004

Ten Years Ago, in 2004

Ten years ago, on September 20, 2004, Doug Grieshop died when his aorta ruptured. He had an undiagnosed bicuspid aortic valve and an aortic aneurysm in his chest.

Eighteen months earlier, Doug went to the ER with chest pain. Nothing was found then. It was left for the coroner, after his death, to find the scar of an old tear, next to the rupture site.

A weakened, diseased aorta may "hang on" for some time, because it has an outer layer designed to be stronger than the others. For Doug, that outer layer held on for a year and a half. When it broke, there was no time to save him. He was instantly gone.

What would happen ten years later, in 2014?

If Doug went to the ER, would they still check him for a heart attack, find he did not have one, and stop there?

Or would they go further? Would they find his bicuspid aortic valve, his aorta bulging dangerously?

Would today's technology be able to "see" the small tear in his aorta? If not, would they still take his chest pain and aneurysm seriously?

Would they ask him about his family history? His uncle died in the same way. Family who saw them say that in death they both looked like they had "exploded". A horrifying memory.

Would they refer him for surgery in time?

 Ten years later, would someone save Doug?

In some communities in the United States, we know what happens today. Some aortic emergencies are being found in time to save lives. But we hear of the dying. Still. In 2014.

For one man, it happened like this.

Always healthy and active, he arrives in the ER. He tells them about a feeling of pressure and burning in his chest. He is short of breath. They check for a heart attack. Negative.

They know there is another killer in the chest - pulmonary embolism (blood clot in the lung). They rule that out too.

They keep him in the hospital, continuing to speculate. The family hears words like acid reflux/heart burn. They even hear about sleep apnea! Eventually they hear he has a bicuspid aortic valve that might need surgery "some day".

Although BAV is a red flag for aneurysm in the chest, finding it did not raise the alarm. Was it because there is a persistent impression that bicuspid aortic valves are relatively harmless?

For this man and his family, many hours went by, spent guessing about conditions that are not immediately deadly.

At times, he felt better. But all of a sudden, something terrible happened inside. At that moment, it was already too late. Many hours were spent desperately trying to save him. It was impossible. Time had run out.

He had bled massively inside his chest. The respirator would continue to breathe for him. His brain was dead.

Is this the best we can do, 10 long years later?

There are many unanswered questions and conflicting guidelines for those with bicuspid aortic valve.

We know we need more answers.

However, we ask for those with BAV what we ask for everyone else. We ask that this often varied condition be viewed with respect for its potential deadliness.

Please do not forget that the diseased aorta is right up there with heart attack and pulmonary embolism.

It is a killer.

There are little children growing up without Daddy,

 grieving wives, heart broken parents.

 Brothers and sisters wondering if this will strike them also.

For everyone with a bicuspid aortic valve

 who will never have an aortic emergency,

 we rejoice. 

But we are called to speak

 for those vulnerable to tragedy.

His daughter was born 4 months after Doug's death

Doug's children in 2010

Their children should not grow up without them.

And their family members should not live in the shadow of fear

 that some day this could happen to them also.

We are
continuing to tell their stories,

raising awareness of the danger,

while living

in a climate of hope.

- the Bicuspid Aortic Foundation

There Are No Perfect Numbers - Making Decisions

In mathematics, there are perfect numbers.

The first one happens to be 6.

 But in aortic disease, there are no perfect numbers.

Just 2 millimeters more

How big is 2 millimeters? It is the thickness of a US dollar coin. Looking at it, one wonders how such a small distance could make so much difference. For one man, it was the difference between having surgery or not. His aorta was 5.8 cm. The doctors told him surgery is done at 6.0 cm. The difference - just 2 mm - the thickness of a coin.

When "6" was the Number
For Louie Lopez, this tiny length became a distance too far, a point never reached. He was in the hospital, talking with the surgeon, when his aorta tore and fully ruptured. Massive bleeding, massive damage. Rushed to surgery, he had no chance. The year was 1995. Yes, "6" was "the number" for aortic aneurysm surgery back then.

Not long ago, Terry Lopez talked about that time, almost 20 years ago, when she lost her husband, Louie. "They were waiting for just 2 mm more. Just 2 mm....surely, 20 years later they can do better than that."

Reading papers, watching medical conference videos from thought leaders in thoracic aortic disease, I marvel at the paucity of answers, the preponderance of uncertainty still, as they continue to debate aneurysm size and the timing of surgery. There is still more unknown than known. Aortic disease remains a more than worthy opponent for those who do battle with it.

The Numbers

Physicians look for numbers to guide them in making decisions about aortic disease. For aneurysms, the most prominent number is the size (diameter) of the aneurysm. There is a great deal of debate about the number, the size when surgery should be done. Some argue to protect from what can be serious complications of surgery, urging that patients wait for the aorta to grow larger. Others promote earlier surgery, at smaller sizes, to protect from life-threatening, deadly events.

The following paper from 2013 is an example of the debate, giving pro and con perspectives from physicians around the globe, Germany, the US, and Australia:

"Aortic Surgery for Ascending Aortic Aneurysms Under 5.0 cm in Diameter in the Presence of Bicuspid Aortic Valve",  authored by Klaus Kallenbach, MD, PhD,, Thoralf M. Sundt, MD, and Thomas H. Marwick, MD, PhD, MPH. 

In this paper, it is noted that very few patients were studied (with differing underlying causes of aortic disease), in coming up with the number for surgery, although used to guide the care of millions.  "The number" has generally been coming down over the years as surgery became safer, but the uncertainty of what the number should be remains.

Some individuals suffer aortic tearing, perhaps death, at smaller sizes. On the other hand, surgery has risk, and offering surgery at smaller sizes may injure someone whose aorta would not have torn or ruptured if allowed to grow larger.

 The size of the aneurysm alone is just not enough. Other measures, other ways to understand, are needed, but not available today.

If there were "perfect numbers" for the aorta, our friend Richard would not have dissected at about the same age and the same aneurysm size as my husband (who did not dissect, but had preventive surgery at 5.2 cm). Richard barely survived and has paid a high price in additional surgery because of his original dissection 10 years ago.

For the narrowed aortic valve, aortic stenosis, there are also numbers: the size of the valve opening and the pressure build up. There are measures for the leaking aortic valve also. Are they perfect numbers, that each individual can trust with their life? Is there a promise that nothing bad will happen before you reach the "guideline" numbers? Nothing bad will happen until you have obvious symptoms?

If there were "perfect numbers" for aortic valves, Chuck Doherty would still be with his family. So would  Chad Rogers.

Guidelines, Not Guarantees 

Those with BAV and other forms of aortic disease need to understand there are no guarantees, no solid promises. There are guidelines based on information available today. To our surprise we may find them quite limited, once we understand what they are based upon. As a patient, you need to research for yourself, understanding as much as you can.

Making Decisions
Part of that research can be searching for and choosing physicians/surgeons with a philosophy and approach to risk that is in agreement with your own. There are things to think about, such as your lifestyle, frequency of foreign travel, and general comfort with the risk of surgery versus the risk of waiting. These decisions should be individualized within the context of guidelines and statistics; decisions made in conjunction with physicians whose philosophy and approach to life and risk are in harmony with your own. Physicians who clearly share their outcome statistics with you.

Handling Uncertainty, Owning Decisions
In 2013, Aortic Valve and Ascending Aorta Guidelines for Management and Quality Measures were published. Including references, there are 66 pages. In the summary on page 54 are these words,"The choice of the best procedure or valve is dependent on many factors as discussed above and no procedure or device is ideal. Ultimately it is up to the patient, the cardiologist, and surgeon to reach a decision on appropriate treatment." 

As these guidelines tell us, it is very important that you, the patient, are a partner in these decisions, and that you understand the basis on which you and your physicians together are making these decisions.

Wouldn't it be wonderful if there were perfect numbers, perfect devices, and simple decision making? Yes, but as in much in life, that is rarely the case. There are pros and cons, trade offs, in most decisions that must be made. But we only have one heart, one aorta, so these are very important decisions.

The more you know, the more you understand the pros and cons, you can make decisions that belong to you, that you can own. Not knowing leaves us vulnerable, caught by surprise. Perhaps many of us have already been there, rudely discovering the imperfections and limitations regarding aortic valve options.

Over 20 years ago, the mechanical valve that saved my husband's life was called a lifetime solution. The night I walked into our home and found my fallen husband, terribly injured by that valve and its complications, I began to understand the terrible depths of untruth in that "promise" that we had happily once believed. I will never forget him saying to me, "I did everything I was supposed to do."

If you understand there are no "perfect numbers", no "ideal" devices and solutions, it will at least help you to be proactive, to question, to research, to seek more opinions when things don't make sense, and to partner with your physicians in the decisions that are made.

And when something does not feel right, when an echo or other test results do not make sense, don't let it go. Keep asking questions, seeking answers.

No one cares more than you do.

 Because it is you, the patient,

 above all others,

 who will "own" the outcome.

May this help you to read,

 question,

 and make informed decisions,

while living in a climate of hope.

Best wishes to all,

Arlys Velebir

Bicuspid Aortic Foundation

Emerson - Our Miracle Boy

Baby Emerson was diagnosed with BAV and AS at 11 weeks

Statistics say that a baby with BAV enters the world every 12 seconds. We also know that they are more likely to be a little boy rather than a girl. Some of them may live many years before their BAV is even discovered. Today, there is increased focus on these adults with BAV and their families.

But there is a group of babies born with BAV who need attention and intervention while still infants or children. They are very much in need of understanding, care, and advancements to help them also.

Who are these little ones, and what is done to help them? 

Statistics may help put the frequency in context, but numbers can be so cold and impersonal. They can never convey what it means to these little ones and their families to face seemingly endless doctor visits and surgery. In order to express the true meaning of BAV in infants and children, we must share their stories.

And so, with the help of his parents, here we share the story of a beautiful little baby, born just a few months ago - Emerson - Our Miracle Boy

Thank you, Nicole and Kyle, for sharing him with us.

 May we all learn the lessons

 that Emerson has to teach us

 about little ones affected by BAV,

Creating a Climate of Hope.

Journey of the Heart

Dr. Sharo Raissi, Lia Nicandrou, Arlys Velebir, Father Prodromos

At the Bicuspid Aortic Foundation, we are very touched and encouraged whenever we hear from those dealing with BAV and the complications of thoracic aortic disease. We take our mission very seriously, knowing that all around the world we share a common experience with families who have BAV and variations of thoracic aortic disease.

The story we share here, of one young man's journey seeking answers and help, spans the many miles between the island of Cyprus and southern California. It would seem highly unlikely that a young man living in a monastery high in the mountains of Cyprus would find his way to the Bicuspid Aortic Foundation. It would seem even less likely that doors would open that would make it possible for his surgery to be performed here. And critically important for this young man, he would find himself in hands that not only could deal with his ascending aortic aneurysm, but also with the strands of tissue clinging to his 13 year old mechanical valve.

His story, in his own words, is on the BAF website - Journey of the Heart .

We are very grateful that Father Prodromos has so graciously shared his experience with others,

Helping us in our mission, 

and creating a climate of hope,

Arlys Velebir

Chairman and President,

Bicuspid Aortic Foundation

Alicia's Story - From Fatigued and Fainting to a New Life!

Alicia, 3 months after surgery, hiked 3.1 miles!

Her Mom remembers Alicia as a healthy baby. At the age of 7 she developed asthma and was also hospitalized with pneumonia, suffering staff infections. From then on, all was well as she grew and went through her teen age years.

But things changed for her at the age of 20, following the birth of her first child, when she began to have complications.

It was during a routine exam that her doctor heard a heart murmur and suggested she see a cardiologist. At her first cardio exam, she was diagnosed with a bicuspid aortic valve. She was told she was fine and would need to be monitored annually. But she had some difficulties during her pregnancy - dizzy spells and fainting. She gave birth to her daughter in 2009.

Her baby daughter was very ill during her first year of life and was ultimately diagnosed with a PDA (patent ductus arteriosis). At one year of age, the PDA was closed, resulting in a very healthy child ever since.

But for Alicia, all was not well. She tired easily, was short of breath, and often felt faint. When she visited her cardiologist in May of 2011, she was told that nothing had changed.

She was also told that she likely would not need heart surgery until she was in her 40's.

How could she face the next 20 years feeling like this? 

The new year, 2012, found this young mother lightheaded, tiring easily, sometimes fainting, and suffering from migraine head aches. Her cardiologist told her she needed to live with these symptoms, and that she was too young to have surgery. She was also cautioned not to have more children.

The months passed, and the symptoms persisted. Alicia was extremely fatigued and fainted often, also suffering frequent migraines. Her cardiologist prescribed metroprolol for her migraines, which lowered her blood pressure and made her feel worse than ever. Alicia had chronically low blood pressure, and the metroprolol took away what little energy she had.

Their search for help led this family to the Bicuspid Aortic Foundation, looking for information, support, and hope. Alicia sought a second opinion from Dr. Sharo Raissi, who chairs the Foundation's Scientific Advisory Board. She underwent testing that revealed she had an aortic aneurysm along with her BAV. It was clear that Alicia continued to feel unwell, and she could not keep up with her very active toddler. In the fall of 2012, after having further tests, plans were put in place for surgery to remove the aortic aneurysm. The bicuspid aortic valve would be replaced if necessary. Amazingly, in December Alicia completed an extensive pharmacy technician program, despite feeling very tired and weak.

Alicia had surgery on January 16, 2013, at St. John's Health Center. The aneurysm was removed and her bicuspid aortic valve replaced with a bovine prosthetic valve. She now looked forward to feeling better, as her body healed.

By March, she was doing very well indeed. Alicia proved her new found energy and stamina by completing a 3.1 mile hike just three months after surgery (pictured above). What a dream come true! Today she feels great and is so happy. She now knows what it feels like to be the healthy woman she was meant to be! And her daughter notices it too. For the first time in her three years of life, she has a healthy, energetic Mom. This is a very happy family!

Alicia is now well informed about her health. She knows that some day the bovine prosthetic valve will require intervention. In the mean time, she is doing all she can to take charge of her health and her life!

May Alicia's story inspire others to listen to their bodies, and seek the help they need until they find it.

Thank you, Alicia, for sharing your story, and creating a climate of hope.

Dianna Rose and John Johnston - BAV in Families

While both Dianna and her brother John were born with bicuspid aortic valves, it is important to remember that when one person has a BAV, other family members may develop an aneurysm even though their aortic valve may appear normal (three leaflets).

BJ Sanders - Bicuspid Aortic Valve and Blood Pressure

BJ Sanders
BAF Board Member

BJ Sanders is a member of the Board of Directors of the Bicuspid Aortic Foundation. Here she speaks at a BAF Conference about her experience with Bicuspid Aortic Valve disease.

Heart Month 2013 - Remembering Kyle Wilson

Bicuspid Aortic Valve (BAV) is the most common birth defect of the heart. For centuries, it has been responsible for death and suffering. In spite of surgical solutions for the aortic valve and bulging aorta, BAV continues to cause suffering and death in the United States and through out the world.

In December 2007, an apparently very healthy 36 year old swim coach suddenly collapsed and died.  His name was Kyle Wilson. Kyle's story is touchingly shared here by his brother on his Outdoors Blog.

As you read about Kyle, look at his pictures, you get a great deal of insight into those with BAV. They are very special people. Often very active and athletic, they are intensely passionate and focused on their interests, and very good at what they do. Generally they glow with health, and may rarely visit a doctors office. But they were born with a BAV, and at some point there is a potential for what happened to Kyle to occur.

 Not every BAV makes a sound, and that murmur may not always be present or detected. But for anyone who was ever told they had a heart murmur, it is well worth being checked. As his brother wrote, Kyle might still be coaching swimmers today if there had been follow up on his murmur. Here you can read about the scholarship for swimmers that has been established in honor of Coach Kyle.

The same year that Kyle died, 2007, a paper was published by doctors from London's heart hospital. You can read about it in this blog post, Where Are the BAV Children Now?

Tragically, we know what happened to one child with BAV, Kyle Wilson. Kyle's voice has been silenced. But what happened to him is a resounding message, not to be ignored, as we honor his memory during Heart Month 2013.

In loving memory of Kyle Wilson,

we share his story to help others

and create a climate of hope.

Great Hearts and Bicuspid Aortic Valves

Dr. Sharo Raissi, Scientific Advisory Board Chairman,  Arlys Velebir, BAF President,
 Dr. Jason Sperling, Scientific Advisory Board Member

Who can help us?

Who do we turn to when a bicuspid aortic valve appears on the scene? Who can help us? It is a question that my family first confronted over 20 years ago.

At that time, my husband was treated in our local medical community, where we first heard the words "bicuspid aortic valve". Other than being told this is a birth defect, nothing in particular was said. My husband received the typical treatment for younger people at that time, replacement with a mechanical valve. We were told he was "fixed" - just take his coumadin (warfarin) faithfully, watch out for infections, and he was set for the rest of his life.

My sister told me about friends of hers back then. The man's aortic valve had been damaged by rheumatic fever. He had it replaced with a mechanical valve and was doing very well. I remember how it comforted me and gave me hope that my husband could be helped too.  

I asked her about this man recently. He still has the same mechanical valve, still takes his anticoagulant, and is doing well. 

That was supposed to happen to my husband too. But it didn't. 

You see, bicuspid aortic valves are "special" and those who have them need special care. As someone from Australia wrote, BAV families have "dodgy" tissue.  The definition of dodgy is very appropriate  - "unsound, unstable, unreliable" and "so risky as to require very deft handling".

Later, when my husband's aneurysm was discovered, we began to understand we were dealing with something "dodgy", and it was going to take some very special help to get through this. Later still, there were more complications.

Great Hearts, Skilled Hands

And so, that is the background, the reason for my smile in the recent picture above, standing between two surgeons who have tremendous hearts and skilled hands, hearts and hands that care for those with BAV. 

I know, so many years later, that is what it takes. Hearts big enough to spend so much time, to give of themselves tirelessly. Spending an hour with you for your first consultation, reading your CT, MRI, and echo  themselves, helping you with blood pressure, answering your questions, and grappling with everything that makes you special. And some day, performing surgery on that dodgy tissue. How dodgy? Well, in my husband's case, it meant taking on yet another, high-risk surgery to deal with pannus and valvular strands on his mechanical valve. Something few have ever heard about, seen, or handled. So far, it has given us an additional 7 precious years together.

What to Look For

At the Foundation we are often asked who can help those with BAV and other forms of Thoracic Aortic Disease (TAD).  It remains a difficult question to answer. Knowledge and technical skill are a must. But there are some other important things to consider.

It should be someone with a heart

 for aortic disease in the chest.

Someone with a heart so large

 that they generously give their time and talents.

Someone that truly cares for you and your family. 

Someone skilled enough

and fearless enough

 to take on your "dodgy" tissue. 

Captured in the picture above,

I was privileged to stand between

two such great hearts.

Standing there,

I knew I was surrounded 

by a climate of hope,
enveloped in

an atmosphere of caring.

May you find the same.

Arlys Velebir

President, Bicuspid Aortic Foundation

.

Where Are the BAV Children Now?

Sometimes the Bicuspid Aortic Foundation receives email like the following. It makes us feel very sad and concerned. Please note that the letter below is based on real experience. However,  some wording has been changed and all identifying information removed. Any resemblance to actual persons, living or deceased, is accidental only.

Dear Bicuspid Aortic Foundation,

My daughter was diagnosed with a bicuspid aortic valve when she was 15 years old. I still have the report of her first echocardiogram, which says she had mild to moderate aortic insufficiency. She had a second echo three years later. That was the last echo she had.

My problem is that my beautiful daughter has always been quite active and has never felt any obvious problems from her heart. She never took this issue seriously, I guess, until lately. She feels fatigued, her legs and ankles swell so badly, sometimes she is unable to pull her jeans over her legs. She has pressure in her chest. Generally, she just feels very badly. I am so concerned. She is now 36 years old, and her children need her. 

Sincerely,

A Worried Mother

In 2007, physicians from London's heart hospital wrote about two men with BAV, raising a similar concern in this paper: An undiagnosed bicuspid aortic valve can result in severe left ventricular failure .

The first man was described as follows: "A 48 year old builder presented with shortness of breath at rest and mild icterus. He had been prescribed antibiotics for a presumed chest infection when he visited his general practitioner six months earlier. A heart murmur was noted during that consultation but not followed up. He later recalled that as a child he underwent annual review for a heart murmur. At age 16 he was reassured and discharged from clinic." What happened to this man? He could not wait for a scheduled surgery date, because his liver and kidneys began to fail. He survived the surgery (the BAV taken out was so calcified, the opening was described as a "pin hole"), but his left ventricle had not recovered its function when the paper was written. Permanent heart damage, at the age of 48. A tragedy.

The second man's story begins "A 46 year old postman was admitted with increasing shortness of breath on minimal exertion (New York Heart Association functional class III). In early childhood, he had been diagnosed with a heart murmur and followed up in a tertiary centre. At age 10 he was either discharged or stopped attending appointments." What happened to him? "He underwent urgent aortic valve replacement during that admission. The ascending aorta measured 5 cm intraoperatively and was therefore also replaced."

From the authors' discussion, "Our cases highlight the potential complications of a bicuspid valve, which could have been prevented by regular monitoring and earlier surgery. Avoiding urgent and emergency surgery has advantages in terms of surgical mortality (perioperative mortality for first time aortic valve replacement in the United Kingdom: emergency surgery 12%; urgent 5%; elective 1.9%; personal communication, Bruce Keogh, Society of Cardiothoracic Surgeons and AD Cunningham, Central Cardiac Audit Database) and the longer term effects of ventricular impairment. Bicuspid valves are present in many people who were reassured in early life or lost to follow-up and in many “healthy” middle aged men whose hearts have never been examined."

This baby grew up to have an experience

similar to the builder described above, with

one  important difference - his heart fully

 recovered after valve replacement surgery.

The message is an important one for adults - if you remember being told about a heart murmur or bicuspid aortic valve as a child, don't wait for symptoms. Get checked as soon as possible, before your heart is permanently damaged or your aorta causes an emergency.

And for parents of children with BAV or even seemingly innocent heart murmurs, do all you can to be sure they are not "lost to follow up". It just might make all the difference between disability, even death, and continuing a normal, active life.

Best wishes from the Bicuspid Aortic Foundation

Aortic Valve Stenosis, the Risk of Under-Treatment, and a "Boot-Shaped Heart"

Some hospitals have beautiful natural settings, and we recently found ourselves at one of them - high up on a hillside overlooking the sparkling, blue Pacific Ocean. We were there recently for an echo, and I remembered again the first time I came there, with my very sick husband. The beauty of that setting was rather wasted on us then.

Aortic Stenosis and Heart Failure
My husband had a life-long heart murmur, but never had the "classic" warning symptoms of valve disease - shortness of breath, fatigue, swollen ankles due to fluid retention. Somehow his body compensated so well, that no one knew there was just enough fluid gathering in his lungs to make an inviting place for bacteria to grow.  I was terrified as the fever spiked and his body was wracked with chills. It was off to the ER - abruptly he was in full blown double pneumonia and then obvious heart failure.

The pneumonia was very serious - I remember being told there was only one other drug choice if the antibiotic didn't work - it did. I understood how deadly pneumonia can be even in younger people then. Jim Henson, creator of the Muppets, died of pneumonia later that year.

We began a very personal crash course on aortic valve disease. I remember his Internist drawing a picture of a heart and showing us where all the valves were. We learned it was his aortic valve that had a problem - the valve that had made just a little murmur when he was born had gradually become more noisy and now made a horrendous rumbling, even to my untrained ear without a stethoscope.

We learned it was aortic stenosis - calcification had built up on the two leaflets he was born with until now the valve opening was only 0.5 cm2 - classified as critical.

Over the years, his heart muscle had been very strong and  pushed the blood out to his body through that bicuspid aortic valve as gradually it narrowed. Working so hard, his left ventricular muscle thickened and became misshapen - they told us his heart was shaped like a boot.

Aortic Stenosis Can Be Deadly
In the video below, from the Foundation's 2011 Conference, statistics are presented about aortic stenosis, and how quickly death follows once it becomes severe - half of those with untreated severe aortic stenosis die within 2 years of their diagnosis. Given how suddenly and severely a crisis developed in my husband, I know he did not have even that much time.

Under-Treatment of Aortic Stenosis
The magnitude of the aortic stenosis problem is shocking: 300,000 Americans that need treatment today, but only 80,000 surgeries done annually. Why? It is important for individuals and families to know that aortic stenosis can be under-treated. There is no medical treatment, and if timely evaluation and discussion of surgery does not happen, the patient may become too sick. Percutaneous valve insertion (TAVI) has just been approved in the US for those too sick to have surgery - but that approval does not include those with BAVs. This video clip from the Foundation's 2011 Conference highlights the concern about under treatment and the possibility for excellent outcomes even at older ages.

Be Well Informed and Avoid Under-Treatment
Aortic stenosis is a very serious condition - being well informed and finding expert care is important. Taking advantage of the information resources available today can make such a difference. It is possible for individuals to consult with surgeons directly, obtaining multiple opinions as needed to understand their options, in order to avoid under-treatment. At the same time, the aorta should be evaluated for enlargement in those who have BAV or come from a BAV family.

My husband's heart murmur was never really "followed" most of his life. He seemed well, and we just did not know any better. As I walked across from the parking lot into the hospital, I remembered how little we knew, how vulnerable we were those many years ago. He is among those fortunate ones whose hearts "remodel" and come out of failure. He fully recovered after his failed BAV was replaced. But that does not always happen, leaving otherwise healthy people impaired by a damaged heart. In order to receive the full benefit of aortic valve replacement or insertion, the heart itself should not have been injured by the effects of aortic stenosis.

May all those with aortic stenosis today receive the information and help they need to keep them safe, and have well-timed intervention to keep widely open that vital flow of blood from their heart.

Best wishes,

Arlys Velebir

Bicuspid Aortic Foundation

Echocardiograms - Using Sound Waves to Look at your Heart

DeAnne Paul will tell you that she loves her job - and it is a very special one. She spends her days looking at hearts. DeAnne is like a very special photographer - called an echosonographer because instead of light, she uses sound waves to see inside the chest and capture the motion of the beating heart. Below we share DeAnne's presentation (Parts One and Two) from the Foundation's 2010 Conference.

Join the Cause - Accurate Diagnostic Testing for BAV and TAD

Recently I went with a family member to have an echocardiogram and the next day a CT Angiogram. These are among the tests currently available to look inside and "see" the heart, its valves, its arteries (the CTA), and the aorta. Since then I have had many thoughts about the "A" in the Bicuspid Aortic Foundation's  ABC's - Accurate diagnostic testing - and the life-saving difference it has made in my own family and many others.

One important thing that individuals and families with Bicuspid Aortic Valve (BAV) and other forms of  Thoracic Aortic Disease (TAD) can do is understand the tests that are available today to baseline and monitor their heart, its valves, and their aorta. At the Bicuspid Aortic Conference in 2010, the topic of imaging was presented. Following is a video clip from that Conference:




To the great physicians Abbott and Osler, who through diagnostic brilliance and keen observation via autopsy, understood and wrote a great deal about bicuspid aortic valves, aortic aneurysm, coarctation, and brain aneurysm, the diagnostic testing and surgical treatments of today were perhaps at most a dream, a glimmer on the horizon. Today, accurate interpretation of these tests are an important part of saving the lives of those with BAV and other forms of Thoracic Aortic Disease.

If you would like to support screening of young athletes for BAV, please visit

Together we seek to understand BAV and TAD, 

As together, we create a climate of hope,

Arlys Velebir

President and Chair

Bicuspid Aortic Foundation