Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, with a prevalence of 1-2% in the general population and results in greater morbidity than all other congenital heart diseases combined.
BAV is the result of abnormal valvulogenesis resulting in an aortic valve with two rather than the normal three semilunar cusps (Figure 1).
More than 35% of individuals with BAV will develop serious complications throughout their life including aortic dissection, endocarditis, aortic stenosis or regurgitation requiring valve replacement, and sudden cardiac death.
BAV is often associated with other cardiovascular anomalies, including coarctation of the aorta and aortic root or ascending aortic dilatation that occurs independently of the functional state of the BAV. As such, the burden of disease from BAV is more significant than any other congenital heart disease combined.
Despite its importance, the underlying pathogenesis of BAV remains elusive. However, several family-based studies indicate that BAV disease can be inherited and is thus likely to have a genetic basis. This study therefore aims to investigate the clinicopathological correlation and the genetic basis of familial and sporadic bicuspid aortic valve disease.
Identification of novel causative and/or modifier genes in BAV disease has the potential to result in earlier diagnosis of family members, thereby allowing earlier initiation of therapeutic and preventative strategies with the potential of reducing cumulative morbidity and fatalities. Equaly important, identification of the genetic basis of bicuspid aortic valve disease will improve our understanding of how genetic factors may influence the development, progression and overall severity of disease.
This Bicuspid Aortic Valve study is conducted at the Royal Prince Alfred Hospital and The Agnes Ginges Centre for Molecular Cardiology at the Centenary Institute. For further information on BAV disease and/or how to participate in this study, you can contact the study coordinator, Dr Ratnasari Padang (02 9515 6111, ask for pager 87099), Ms Cath Powell or Ms Lisa Turner (at 02 9515 6366).