Congenital aortic stenosis is a common congenital heart lesion which may occur in isolation or in combination with other heart defects. In the majority of cases the aortic valve itself is narrowed by congenital deformity. The deformed valve may be bicuspid instead of tricuspid and the cusps are frequently fused at the edges. The degree of stenosis may worsen as the child gets older due to thickening and calcification of the cusps.
Occasionally the aortic stenosis may be supravalvular. Often this is a familial condition and is associated with an unusual facial appearance, mental retardation and hypercalcaemia in infancy.
Subvalvular aortic stenosis may be due to a fibrous diaphragm below the valve obstructing the flow of blood from the left ventricle to the aorta, or there may be excessive hypertrophy of the left ventricle and interventricular septum which obstructs the outflow tract of the left ventricle during systole, ie a hypertrophic obstructive cardiomyopathy.
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