Supravalvular and valvular aortic stenosis in homozygous familial hypercholesterolemia.
Premature atherosclerosis with a particular predilection to the coronary arteries is a well-known complication of homozygous familial hypercholesterolemia. However, well documented involvement of the aortic root and valve with aortic stenosis has not been recognized frequently antemortem. Clinical, echocardiographic, hemodynamic and angiographic features of a case with valvular and supravalvular aortic stenosis secondary to homozygous familial hypercholesterolemia are described. Surgical relief of the left ventricular outflow obstruction was not attempted because of the patient's refusal.
D000328:Adult; D001024:Aortic Valve Stenosis / Q000175:diagnosis* / Q000209:etiology / Q000503:physiopathology; D005260:Female; D006439:Hemodynamics; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications / Q000175:diagnosis* / Q000503:physiopathology; D010375:Pedigree; D014973:Xanthomatosis / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology