Bicuspid Aortic Valve Families - Strangers in Two Worlds?

Strangers in Two Worlds, Possibly Three ?

There are at least two worlds where someone 
from a bicuspid aortic valve family

 may find themselves. 

Perhaps because of the sometimes subtle nature
 of the abnormalities in these families, 

those affected do not fit well in either of them.

Strangers in the World of Congenital Heart Disease?

There is a world for those with congenital heart conditions. It is defined by many complex problems that require life-saving surgery at an early age. These are hearts with problems so severe that without early intervention there is no hope. An example is Tetralogy of Fallot, which is actually four different abnormalities of the heart that are found together. Much of the pioneering heart surgery that began over 50 years ago was performed to help these infants and children. Surgical advancements have saved many of them, allowing them to reach adulthood. Their survival has resulted in an emerging, much-needed specialty for them as adults with congenital heart disease.

In contrast with these complex cardiac conditions, the bicuspid aortic valve must appear such a simple thing. Although it is the most common congenital heart defect, it may not cause any problems in childhood. Stenosis, or narrowing, due to unusual tissue, may force intervention in the young. But generally, the BAV does not find a home here. When I attended a large conference a few years ago, the congenital heart disease agenda held nothing for me to attend - the bicuspid aortic valve was not listed at all.

Strangers in the world of valve disease?

There is another world, the world of heart valve disease. This is a world focused on problems with the valves of the heart - most often the aortic valve and the mitral valve. The failing BAV is found here, included along with the other reasons for heart valve issues. Many with BAV, like my husband, are first treated in this world, undergoing life-saving valve surgery. 


But the full picture is not contained in the aortic valve with only two leaflets. Dr. M. E. Abbott, through her work including publications in 1928 and 1936, informs us that bicuspid aortic valves are associated with aortic aneurysms and with coarctation. Dr. Abbot also documented death of those with BAV due to brain aneurysm. 


Individuals and families notice that some of them have abnormalities expressed elsewhere in their body. And in some, there are issues such as blood pressure that surgery alone does not solve. Yes, many aspects of BAV make it a stranger in the world of isolated valvular heart disease also.

Strangers in the World of Brain Aneurysms too?

BAV families may be found in this world too. Is anyone expecting them here? I found it was all too true as I sat beside Carrie Mettler in Dr. Wouter Schievink's office, listening as he told her there was an aneurysm behind her left eye.  


In May, 2010, "Screening for intracranial aneurysms in patients with bicuspid aortic valve" was published. This is the most recent but certainly not the first time that this finding was reported. While at Mayo in Rochester, Minnesota, Schievink and Mokri wrote about BAV families with arterial dissections in 1995 - "Familial aorto-cervicocephalic arterial dissections and bicuspid aortic valve". However, in her comprehensive work on congenital heart disease, Abbott reported in 1928 on BAV, coarctation, and  brain aneurysm.  Abbott documented four BAV cases of Sir William Osler in the Atlas of Congenital Cardiac Disease, 1936, Plate IX. In Figure 7c, one of Osler's patients is described as a 20 year old man who presented with symptoms of endocarditis, but who died suddenly of a ruptured aneurysm in his brain. Dr. Abbott's comment was "(?congenital)".  In publishing her work, Abbott meticulously lists physician references back into the 1800's, documenting death due to brain aneurysm, while noting the condition of the BAV and aorta.  

Who will take up this challenge today, 

so that more BAV individuals and families 
will not be strangers, unrecognized, in this world?

Families with BAV need a world focused on them;
a place where the variation and complexity of this condition are acknowledged. 

It was when my husband's aortic aneurysm was discovered in 2001 that I began to understand there was much more to the BAV experience. We were shocked by the diagnosis of the aneurysm. I remember very clearly my husband's surgical consultation at that time. Would this surgeon understand? Yes, he not only understood the connection between aneurysm and BAV, but the blood pressure issues as well.  Finding understanding and help in that surgeon's office was an unforgettable moment. That day, we found a place where the history of a bicuspid aortic valve was not trivialized. We found a place where my husband's plight was not an unexpected stranger. 

Some years later, I listened on the phone as my husband spoke with another family member, just diagnosed with a BAV. A sports physical had found the abnormal, fish-mouth aortic valve. It was then that we began to understand that what my husband had was not isolated to just him. Having seen my husband go through two surgeries by this time, no one in the family was under illusions about what having "it" might mean.


Later still, my husband's sister began to have "heart" problems. What did she have, two leaflets or three? Even with the best imaging, there was some question. Her valve had definitely calcified and needed replacement. Surgical removal dispelled all doubt - her aortic valve, calcified and stenotic, had three fully separate leaflets. 
Locally, despite her family history, she was initially viewed as just an isolated case of trileaflet aortic valve stenosis.  But that was not the case. She had something else, an ascending aortic aneurysm. We began to understand that our family is like the thirteen families in a paper published in 2007 - "Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance". 


It can be dangerous to find yourself in a world of isolated valve disease if you are from a BAV family. In that world, the diseased aorta that can tear and rupture may not be recognized and checked if the aortic valve has all three leaflets. We learned that this is the bottom line - when someone has a BAV, others in their family may be at risk of aortic aneurysm, dissection, and rupture, even though their aortic valve has three normal-appearing leaflets.  

Strangers No More?

The goal is that no one with BAV in themselves or their family should find themselves a stranger. They should not doubt the reality of their own experience because they do not fit common perceptions about BAV. They should not suffer injury or death prematurely in a day when there are more resources to help them than ever before. Rather, they should have access to all the life-saving capabilities available today.  


It is encouraging to see more accommodation, more recognition of the needs of BAV families. Northwestern is hosting a webcast tomorrow, entitled "Specialized Care for Patients and Family Members with Bicuspid Aortic Valve Disease". And new programs are springing up - those who find their way to Valley Heart in northern New Jersey will find a specialized TABAV Program - they will not be strangers there.


Tonight, I gently turn the pages of a book, yellowed and musty - the American Heart Journal of 1928. It contains Dr. Abbott's paper. I think of the Webinar from Chicago tomorrow, the various programs springing up like the one at Valley Heart,  where the totality of BAV in families is not a stranger.

I believe Dr. Abbott would be pleased. 

Arlys Velebir
Bicuspid Aortic Foundation

A Heart for the Race - Skiing a Marathon

Some of the OSCR  participants

Seeley Lake, nestled high in the mountains of western Montana, is known for its beauty. The ski trails of this community were the setting for the 30th OSCR (Over Seeley's Creeks and Ridges) Ski Race on January 29, 2012.  Nordic (cross country) skiing is well known as a vigorous cardiovascular workout , and this skiing marathon was no exception.

Bob Gies (right) skiing the OSCR 10K, January 29, 2012

Everyone there was outfitted with their ski gear, but among the 10K participants was one 67 year old man with some very special equipment inside his chest. This man had a special heart for the race!

Athletic all his life, Bob Gies underwent major surgery in 2010, addressing three distinct problems with his heart and aorta. The seeds of those problems were present the day Bob was born. He had come into the world with an aortic valve that had only two leaflets. By the time he had surgery, his bicuspid aortic valve was calcified, his ascending aorta had ballooned into an aneurysm, and the "electrical" rhythm of his heart needed some help too!  

  In a prior blog, Bob's experience before and after surgery is given in more detail. 

A heart for the race and a smile that says it all!

Bob went through cardiac rehab following his surgery and found the monitoring reassuring as he gradually healed and recovered his stamina. Sometime in 2011, he decided to enter this race, a true cardiovascular challenge.

 As Bob approached the finish line, do you wonder what he was thinking? Many things, perhaps. Awe for the amazing things inside his chest - a man-made, tissue aortic valve faithfully opening and closing with every heart beat, the Dacron graft taking the pressure of the blood gushing out of his heart, and the "remodeled" electrical pathways - all the things that surgery had given him.

Finish Line!

Bob carried something else inside his heart as he powered through those trails on his skis - tremendous gratitude for the skilled hands of his surgeon, who gave his heart, his life, back to him again.

Yes, Bob had the heart for this race! He finished!

Tsunami of Hearts - Bicuspid Aortic Valves and Heart Month 2012

BAV and Heart Month

Doug Grieshop at 2 months,
born with undiagnosed BAV,
died of aortic rupture at age  33

Somewhere today, a child is born with a bicuspid aortic valve. Along with the cries of the newborn, is there another sound? Will a mumur catch the doctor's ear? Sometimes perhaps, but the tiny valve with only two leaflets may make no sound at all.

What does that little two leaflet aortic valve

 portend in the future

 for this beautiful child, born today?

A Very Old Problem
First drawn by Leonardo da Vinci and capturing the attention of many great physicians in the pre-surgical era (Osler, Abbott, Lewis, Grant, Bishop, Trubeck(3) ), the bicuspid aortic valve is not a new discovery. Interestingly, today's statistics for congenital heart disease often do not include it, typically counting only those heart deformities requiring intervention in childhood.(1)

A True Tsunami - Millions of Hearts
The magnitude of the impact of BAV is tremendous, injuring or killing more individuals than all other heart defects combined.(2) The reason is that there are so many BAVs in the world. Actual statistics are limited (2), but using an estimated 2% of the population, in the United States alone, the number with BAV in the United States would be just over 6 million. How many of them will at some point be injured or die?

Seemingly Simple, Well Known, Still Not Understood
"We don't know very much about bicuspid aortic valves." These were the words of a physician, quoted by a shocked, grieving young widow.  A physician who went to the service for her husband, who sat with her and reviewed all the reports - both of them trying desperately to understand what happened. Why she came downstairs and found her husband dead. It can seem safe to watch and wait, and then there is a sudden death that is not from aortic dissection or rupture. In the files of the Foundation is an autopsy report, along with a beautiful picture of another young man and his daughter. Sudden death, nothing found except a bicuspid aortic valve. Not as common perhaps, but still part of the story, along with aortic stenosis, aortic regurgitation, endocarditis, brain aneurysm, aortic aneurysm, aortic rupture, aortic dissection.


Dr. Abbott's Work
In 2011, the Foundation highlighted the work of Dr. Maude E. Abbott. Individuals and families affected by BAV are needed to change the future for the child born today with BAV - to move forward from where we are, to help find answers to the many questions that remain about BAV.

Be a "Heart Donor" in 2012
Contact the Bicuspid Aortic Foundation at contactus@bicuspidfoundation.com if you would like to help. And please consider a donation to support the search for answers. For as little as $10, you too can be a "heart donor" for the child born today with a bicuspid aortic valve.

References
(1) The Incidence of Congenital Heart Disease, Hoffman and Kaplan, Journal of American College of Cardiology, Volume 39, Icessue 12, June 19, 2002.
(2) Clinical significance of the bicuspid aortic valve, C Ward, Heart 2000;83:81-85 doi:10.1136/heart.83.1.81  
(3) Atlas of Congenital Heart Disease, M.E. Abbott, 1936, Plate IX.

"Special Forces" and the Fight with Thoracic Aortic Aneurysm, Dissection, Rupture

Special Forces

Galen Kittleson

I recently discovered a warrior hero in my ancestry. Not one of the ancient Vikings from whom we are descended, but a modern day hero. He was among a very select special operations group in World War II, the Alamo Scouts, and later, unable to resist rejoining the fight, became a Green Beret.

I am so sorry I never met him. He died in 2006. I am getting acquainted with him through a book called Raider, as well as video and articles about him. Galen Kittleson is honored for going right into the thick of the enemy and freeing their captives, going on more raids to free prisoners of war than any other soldier. Through him, I am learning more about the unique role elite forces perform, keeping all Americans free and safe.

It has reminded me of the fight against aortic disease.

Drawn to exploring this subject further and listening to video of  Marcus Luttrell, who wrote the book Lone Survivor, I was again struck by parallels to the fight with an enemy who is elusive, deceptive, ruthless, deadly - the fight with thoracic aortic disease.

The Enemy
Aneurysm - it is an old word, tarnished by death and devastation. In lay terms, it is spoken of as a time bomb, a balloon that can burst, wreaking havoc inside and causing sudden death.

Dissection (tearing but not complete rupture) - this less familiar word has entered the public square more recently, again associated too often with deadly consequences.

These two are the most familiar hallmarks of the enemy, aortic disease in the chest, whose presence has been under estimated, easily confused with coronary artery disease.

The Victims
Who does the enemy target? Today we know there are categories of people at risk, including the millions like my husband born with bicuspid aortic valves. But it is important to remember that this is an enemy that can cause trouble across a wide range of humanity at all ages. One evening a few of us met in a restaurant to discuss organizing the Bicuspid Aortic Foundation. Just before that meeting, I visited two people in the hospital. Both had an incision line down the middle of their chests. Both had Dacron inside. One was a little boy about two years old. The other was a man aged 52. One had Marfan Syndrome, one was born with a bicuspid aortic valve, but threatening them both had been the common enemy, an aortic aneurysm in their chests.

You might think that, unlike soldiers, the physicians called to do battle are safe. No, they have no special protection. They too may be in danger. ER physicians are on the front lines when many diseases attack, including this one. As I write, I am thinking of an ER doctor who died suddenly, presumed to be the victim of a heart attack. There was no autopsy. Later an aneurysm was found in his brother's chest. What really killed that ER doctor? Dr. Michael DeBakey, who pioneered aortic surgery and the use of Dacron to replace diseased aortic tissue, was himself a victim when his aorta dissected in 2005.  Surgery was performed, placing the Dacron he had discovered into his own chest.

Exactly how many dead do we bury because

 of an enemy called thoracic aortic disease? 

No one knows.

Statistics are incomplete. Without an autopsy, even in death the enemy may hide. The heart, completely innocent and sometimes crushed in a pool of blood, is blamed instead. In a family who lost three brothers, it was only with the third sudden death that the enemy was unmasked, putting other family members on guard. Three similar sudden deaths, only one counted against aortic disease.

The Fight
Wars have been declared on heart disease and cancer. At the same time, battles with aortic disease in the chest went on more quietly, mostly out of the public eye. Surgeons began to win more battles, especially when the enemy was found before doing any damage. But surgeons can not fight an enemy that is not found.

Fighting thoracic aortic disease has many parallels to guerrilla warfare, hand to hand combat. The enemy may lurk silently, and if exposed, mimic something else quite harmless. Unless someone recognizes it is not anxiety, not indigestion, not asthma, and keeps looking, keeps thinking . . . the enemy remains hidden.  When chest pain or pressure threaten to expose it, the enemy may distract by pointing to the heart - but there is no heart attack. There is no pulmonary embolism either. What else can suddenly launch a deadly strike in the chest ? The enemy is a diseased aorta, too often never even on the radar screen. 

Those who fight such an enemy need special skills, honed by thinking and studying the enemy's tactics. As Marcus Luttrell has said, the fight does not come with rules clearly written in black and white. Who is up to such a fight?

Never Quit, Never Surrender
From the 1940's Alamo Scouts to the present, some things in particular stand out about these elite forces. They know the enemy. They never quit. They never think they are going to lose. They trust each other completely. They fight to the death.

If you had thoracic aortic disease, 

who would you like to fight the battle with you?

I remember clearly a conversation between two doctors about a patient. One said it was just too much of a mess, too much damage had been done inside. I don't remember what the other doctor said, but I remember what he did. He kept fighting. He won. Who do you want on your side?

My husband had already been in some battles - first replacement of his bicuspid aortic valve and then removal of an ascending aortic aneurysm - and so, I dared to hope the fighting might be over. And then one night I found him, completely helpless, collapsed on the floor. As the paramedics wheeled him out the door, who do you think I called? Someone who would say it was too much of a mess, that it was too hard, there was too much damage? Someone who would say we would never know what happened, never find who the enemy was? No, I called someone who will always fight. Someone who will never give up. Someone who never thinks the battle is lost. And that is why I still have my husband today. For some like my husband, there are lulls between battles, but we can never let down our guard.

Volunteers
Members of these elite military fighting teams are volunteers. Of those who volunteer, very few qualify.  Recently I spoke with someone who has volunteered for the aortic disease fight - someone who cares about those born with bicuspid aortic valves and all others in danger from aortic disease in the chest. Someone who is studying the tactics of the enemy. It gave me fresh hope, fresh courage for the battle. There are still volunteers.


If I could speak to Galen Kittleson today, I would thank him for his service to our country. And as I imagine our visit, we would speak about our common ancestry. But at some point I would tell him about this fight. I know he would understand the cause. He would understand the horror - the dead, the injured, the devastated families. He would understand the victories too.

But one thing he would never understand - giving up the fight.

May there be special volunteers to take this fight to those in danger - to unmask and disarm the enemy among us, thoracic aortic disease. And if you have this enemy within you, may one of them come to your rescue.

Arlys Velebir
Bicuspid Aortic Foundation