Bicuspid Aortic Valve and Thoracic Aortic Aneurysm: Three Patient Populations, Two Disease Phenotypes, and One Shared Genotype
Figure 1
Spectrum of aortic valve malformation. Parasternal short-axis echocardiographic views at the base of the heart showing the aortic valve en face (a–h). Normal tricommissural aortic valve (TAV) morphology is demonstrated in diastole (a) and systole (b). Distinct morphologies are based on fusion patterns of the commissures (dotted lines, (b)) as they relate to the right (R), left (L), and non-(N) coronary sinuses of Valsalva (a). Aortic valve malformation ranges from unicuspid (UAV) to bicuspid (BAV) to a thickened tricuspid (not shown) to quadricuspid (QAV) morphology. Three normal commissures are demonstrated in (a), and normal opening of the commissures results in complete cusp separation to the wall of the aorta at the sinotubular junction (yellow arrowheads). UAV manifests as either partial fusion of all three commissures (red arrowheads, (c)) or complete fusion of both the RN and RL commissures (d). Bicuspid aortic valve (BAV) may manifest as fusion of the RL (e), RN (f), and rarely LN (g) commissures. Rarely, a quadricuspid aortic valve (QAV, (h)) is identified.
