International Bicuspid Aortic Valve Consortium (BAVCon)
Bicuspid aortic valve (BAV) disease is the most frequent congenital cardiac malformation, occurring in 0.5-1.2% of the US population. In young adults, it is generally a benign abnormality; but in older adults it is associated with thoracic aortic aneurysm or dissection in 20-30% of those with BAV. BAV is strongly associated with early development of aortic valve calcification or incompetence in >50% of BAV patients, and accounts for ~40% of the >30,000 aortic valve replacements (AVR) performed in the US each year. Yet, we know little of the etiology, cellular events and modifiers of progression of BAV to calcific aortic valve disease and we still do not understand the genetic cause(s) of BAV despite evidence for its high heritability.
The Specific Aims of this study are:
- To identify the genetic causes of bicuspid aortic valve disease and its associated thoracic aortic disease.
- To identify potential pathways to predict the clinical course of BAV disease and for treating human BAV disease.
To achieve these aims, we have created the International Bicuspid Aortic Valve Consortium (BAVCon), a consortium of institutions with cohorts of BAV patients and the expertise to fulfill the performance of these aims.
Bicuspid Aortic Valve Disease
Thoracic Aortic Disease in Patients With a Bicuspid Aortic Valve
|Study Type:||Observational [Patient Registry]|
|Study Design:||Observational Model: Cohort
Time Perspective: Prospective
|Target Follow-Up Duration:||10 Years|
|Official Title:||International Bicuspid Aortic Valve Consortium (BAVCon)|
- Bicuspid aortic valve disease [ Time Frame: 10 years ] [ Designated as safety issue: No ]The first specific aim is to identify the genetic causes of bicuspid aortic valve disease.
- The development of thoracic aortic disease in patients with bicuspid aortic valve disease [ Time Frame: 10 years ] [ Designated as safety issue: No ]The second specific aim is to identify genetic and non-genetic factors to cause thoracic aortic disease in BAV patients.
Biospecimen Retention: Samples With DNA
We are collecting DNA from either saliva or blood.
|Study Start Date:||November 2013|
|Estimated Study Completion Date:||November 2033|
|Estimated Primary Completion Date:||November 2023 (Final data collection date for primary outcome measure)|
Bicuspid aortic valve disease
Group/Cohort Label - Bicuspid aortic valve
Group/Cohort Description -
Tricuspid aortic valve control patients
Group/Cohort Label - Tricuspid aortic valve control patients
Group/Cohort Description -Control patients will come from approximately matched patients without an identified bicuspid aortic valve who are trace, gender and geographically matched.
Show Detailed Description
|Contact: Simon C Body, MD MPHfirstname.lastname@example.org|
|United States, Massachusetts|
|Brigham and Women's Hospital||Recruiting|
|Boston, Massachusetts, United States, 02115|
|Contact: Simon C Body, MD MPH 617-732-8127|
|Contact: Michael Franke, MD MPH 617-732-8127 email@example.com|
|Study Chair:||Simon C Body, MD MPH||Brigham and Women's Hospital|