Abstract 16060: Familial Bicuspid Aortic Valve Disease Frequently Shows Discordance of Leaflet Fusion Pattern and Extent: Insights from Cardiovascular Magnetic Resonance
Background: Bicuspid aortic valve (BAV) is known to be heritable. Cardiovascular Magnetic Resonance (CMR) is increasingly recognised as a valuable technique for evaluating valve morphology. We used CMR to determine whether the spatial arrangement of fused leaflets was similar (concordant) within families, or whether it differs (discordant). We also assessed the anatomical extent of fusion of leaflets within families.
Methods: We prospectively enrolled 37 consecutive families (141 participants in total) in whom at least one member was affected by BAV. Participants over 10 years of age underwent CMR, and those under 10 years echocardiography. Valve morphology, leaflet fusion pattern and anatomical extent of fusion were noted.
Results: Ten families had two or more affected family members (26 people with BAV including index cases). In only 4 of 10 families was a concordant pattern of cusp fusion seen in all affected members. In the remaining 6 families, there was discordance in the spatial arrangement of leaflets (fig. 1). There was variability in the extent of leaflet fusion in two families (fig 2). In the remaining families the fusion was complete.
Conclusion: Familial BAV often shows discordance of leaflet fusion pattern within families. This indicates that in human families the tendency for a BAV is inherited rather than the spatial arrangement as such. This is in contrast to BAV animal models where the heritability of spatial arrangement is concordant. The variable extent of fusion within families, however, supports similar findings in animal models. Therefore clinically BAV family screening would be indicated even in cases of partial fusion.
- © 2012 by American Heart Association, Inc.