Bicuspid aoRtic vAlVe gEnetic research
Principal Investigator: Dr Aiden Bolger
Bicuspid aortic valve (BAV) is the most common congenital valvular heart anomaly in humans. In affected individuals, the aortic valve (the structure that allows blood to flow from the left ventricle to the aorta) consists of two rather than three leaflets. Although it does not usually affect how people with the condition live from day to day, BAV is associated with serious cardiovascular complications later in life.
The BRAVE study aims to identify the genetic variants associated with bicuspid aortic valve using a combination of case-control and family-based approaches. The research team will recruit patients aged 10 years and above with BAV. All first degree relatives (such as siblings and parents) who agree to participate in the study will be screened for the presence of BAV and where possible, all their family members will be enrolled into the study, irrespective of whether or not they have BAV. In addition, a group of unrelated individuals with normal aortic valves will also be recruited to enable a case control analysis.
The study aims to identify and catalogue genetic variants for each individual to determine whether any particular variant or sets of variants are more common in patients with BAV compared to those without BAV (case-control design) or their unaffected family members (family-based approach).
Participants have been referred to the study from hospitals across the East Midlands, including Glenfield General Hospital, Kettering General Hospital, Lincoln County Hospital, Northampton General Hospital and Royal Derby Hospital.
For more information about the BRAVE study please email Dr. Radek Debiec