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