Bicuspid Aortic Foundation View From Here August 2007

Family "Pictures"

When we were told my husband had a bicuspid aortic valve (BAV), it was described to us quite simply: a valve having two leaflets instead of three. In my mind's eye I pictured a valve that had managed to open and close over the years, although not the perfect three-leaflet it should have been. The failed BAV was replaced, and I tucked that little description away in my mind, never thinking it would become a defining characteristic in the future.

There was no mention of a disease or syndrome then. Later, when the ascending aorta was found bulging to a diameter of 5.2 cm - an aneurysm - I remembered that bicuspid aortic valve, replaced years before.We learned that there was a relationship between being born with a BAV and the aneurysm. We began to uncover some of the characteristicsof BAVD. With time, we would learn more, about BAVD and families.

A paper was published this month in the American Journal of Medical Genetics that describes 13 families with BAV and thoracic aortic aneurysms. Here is a link to the abstract Familial thoracic aortic dilation and bicommissural aortic valve: A prospective analysis of natural history and inheritance

There is a very important point made by these authors: in families where a BAV and aneurysm had been found in one person, some individuals had an aortic aneurysm, even though the aortic valve appeared to have the normal three leaflets. At the time they were studied, some family members were diagnosed with a BAV only, some with a BAV and an aneurysm, and others an aneurysm and an apparently normal trileaflet aortic valve.

This means that once a BAV is found in one person in a family, all family members become suspect. They may have a problem with the aortic valve, the aorta, or both. A normal appearing aortic valve does not rule out a problem with the aorta. It is not enough to look for the BAV - the aorta must also be checked and monitored over time.

The authors explain this by stating that thoracic aortic aneurysm and bicuspid aortic valve are "independent manifestations of a single gene defect". We cannot take any comfort if the aortic valve appears to be "normal" - the aorta still needs to be imaged. At a minimum, the picture must show the aorta higher up, above the aortic "root", the area called the ascending aorta. The most complete picture, leaving nothing to speculation, would include the entire aorta (done by MRI or CT).

What if an ascending aortic aneurysm is found first, and not a BAV?

Sometimes an ascending aortic aneurysm is found and there are no obvious risk factors to explain why. The experience of families like those studied here show us that it is entirely possible that when other family members are checked, a BAV may appear on the scene also. This is the variation that is possible in families affected by BAVD.

The authors end with this statement:

"To avoid the risk of early death, it is essential that all first-degree relatives
receive echocardiographic follow-up at regular intervals
regardless of the presence or absence of a BAV.
This assessment must include imaging of the aortic region above the STJ. "

The emphasis is on follow-up at regular intervals, not just a one-time look. Why? Because this condition is considered progressive - its effects appear in the body over time.

There are other pictures to be taken also. Dr. Schievink's work and Carrie Mettler's experience remind us of the increased risk of brain aneurysms. And there is something else to look for - valvular strands, the culprits behind some embolic strokes in those with prosthetic valves.

Today we understand that aortic valves with abnormal leaflets are telling us something important about a genetic condition in our families. We do not have all the answers, but we can be vigilant, guarding against what we do know. These reported studies justify testing with the tools available to us today, including MRI and CT.

At the Foundation's Conference in September, significant time is devoted to imaging. I am looking forward to those sessions and the information that will be shared. I have learned to treasure imaging and its role in saving my husband's life. Those life-saving pictures stretch back over 17 years now. We owe his life first of all to those technicians who took clear images, and to the physicians who accurately interpreted them. My husband, and others in his family, will continue to have their pictures taken as long as they live - they are pictures of hope!

With the help of state-of-the-art imaging,
today we create a climate of hope.

Sincerely,
Arlys Velebir
Chair, Board of Directors
Bicuspid Aortic Foundation

Contact Us
Bicuspid Aortic Foundation
30100 Town Center Drive, Suite O-299
Laguna Niguel, CA 92677

Telephone
Toll free in the US (888) 310-HOPE (4673)
or (949) 495-0027

Fax: (949) 606-0413

Email: contactus@bicuspidfoundation.com

The Bicuspid Aortic Foundation recognizes the importance of maintaining the privacy of individuals who use its web site.

In using the Bicuspid Aortic Foundation web site, you are agreeing to the terms of this privacy policy. If you do not wish to accept the terms of this privacy policy, please do not access the Bicuspid Aortic Foundation web site.

All personal information provided to the Bicuspid Aortic Foundation will be kept confidential within the Foundation, and will not be disclosed to any third party without the permission of the individual.

Email and messages sent through the web site are not secure. Therefore, personal information you transmit to the Bicuspid Aortic Foundation may be intercepted by others and is done at your own risk.

The Bicuspid Aortic Foundation may contact you regarding topics of interest. If you do not wish to receive such communications, you may contact the Bicuspid Aortic Foundation and indicate that you do not wish to receive them. If at a later time you again wish to receive such information, you may indicate that by contacting the Bicuspid Aortic Foundation.

The Bicuspid Aortic Foundation makes no representation whatsoever regarding the privacy policy of other web sites whose links are on the Bicuspid Foundation web site. Your usage of other web sites is entirely at your own risk. You should carefully read the privacy policies of all web sites that you visit.

Please contact the Bicuspid Aortic Foundation regarding any questions you may have about this policy.

Disclaimer

The information on the Bicuspid Aortic Foundation website is provided for general informational purposes only. This information is not professional, legal, or medical advice. Any medications, products, or treatment mentioned are presented as information only and do not constitute any recommendation, approval, or endorsement. Any information is general in nature and is not a substitute for medical care. You should contact a physician or other qualified medical professional for advice about all health-related conditions.

The Bicuspid Aortic Foundation, including its officers, directors, volunteers and any others acting on its behalf, individually and collectively, make no representations or warranties, expressed or implied, regarding the contents of this website, including its accuracy, completeness, or reliability.

Any links or references to other websites provided on the Bicuspid Aortic Foundation website are made available as a convenience only. The Bicuspid Aortic Foundation has not reviewed all of the websites linked to this website and is not responsible for the content of these sites or your use of them.