Identification of Genetic Causes of Bicuspid Aortic Valve Disease

Study Overview
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Brief Summary
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BAVgenetics is a partnership between Investigators at Boston University, Brigham and Women's Hospital, and Massachusetts General Hospital dedicated to discovering the genetic causes of bicuspid aortic valve disease and associated aortic disease.

Detailed Description
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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send you the requisite forms so that you receive the most up-to-date information about the study as older forms may be outdated.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.

Official Title
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Identification of Genetic Causes of Bicuspid Aortic Valve Disease

Conditions
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Bicuspid Aortic Valve

Participation Criteria
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Eligibility Criteria
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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 enrolled. 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

Ages Eligible for Study
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Minimum Age: 14 Years
Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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Accepts Healthy Volunteers

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Bicuspid aortic valve<br>Collection of patients who are known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging | |
| Relative<br>Collection of patients who are a relative to a patient known to have bicuspid aortic valve disease, diagnosed by prior cardiac imaging | |

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Identification of genetic variants associated with the occurrence of bicuspid aortic valve disease |  | 20 years | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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Bicuspid aortic valve