Identification of Genetic Causes of Bicuspid Aortic Valve Disease

Therapuetic Areas:Cardiology / Vascular Diseases
Age Range:14 - 80
Start Date:December 2009
End Date:December 2030
Contact:Simon C Body, MBChB, MPH

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BAVgenetics is a partnership between Investigators at Beth Israel Deaconess Medical Center,
Brigham and Women's Hospital, Massachusetts General Hospital and the Harvard-Partners Center
for Genetics and Genomics, dedicated to discovering the genetic causes of bicuspid aortic
valve disease and associated aortic disease.

The Investigators at BAVgenetics are dedicated to discovering the mechanisms of bicuspid
aortic valve disease and why individual genetics seem to play such an important role in
generation of this disease.

If you have, or have had, a bicuspid aortic valve, we seek your help in this effort by
volunteering to donate DNA to the BAV Registry, so that this disease can be better understood
and therapies for it can be developed.

The BAV Registry is comprised of patients who have donated DNA collected from saliva (spit)
and have provided us with personal health information that tells us about their bicuspid
aortic valve.

Individuals in the Registry have signed the consent form, filled out the medical history
questionnaire and the authorization form, and provided DNA via our saliva sample kits.

We will send you the requisite forms so that you receive the most up-to-date information
about the study as older forms may be outdated. We also need paper copies of the forms;
therefore, we send all the forms via ground mail along with a pre-paid return envelope for
your convenience.

Inclusion Criteria:

- Any adult patient ≥ 14 years of age may be recruited regardless of gender, ethnicity
or racial group.

- Patients with a diagnosis of bicuspid aortic valve will be enrolled.

- Patients who have had their bicuspid aortic valve previously replaced will also be

- Relatives of patients with a diagnosis of bicuspid aortic valve are also welcomed to
be enrolled regardless if they have BAV or not, as it is helpful to examine the DNA of
first degree relatives.

Exclusion Criteria:

- Non-English speaking
We found this trial at
330 Brookline Ave
Boston, Massachusetts 02215
Phone: 617-632-8066
Beth Israel Deaconess Medical Center Beth Israel Deaconess Medical Center (BIDMC) is one of the...
Boston, MA
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