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Supravalvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: Contemporary Management

Scott Eisenberg,Daniel Gold, Puja K. Mehta,Bradley Leshnower,Laurence S. Sperling

JACC: Case Reports(2024)

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Abstract
We report a case of a patient diagnosed with homozygous familial hypercholesterolemia and progressive supravalvular aortic stenosis. Treatment with long-term low-density lipoprotein apheresis and management with novel lipid-lowering agents including an angiopoetin-like protein inhibitor led to significant low-density lipoprotein reduction. The case highlights the challenges in managing the manifestations of homozygous familial hypercholesterolemia.
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Key words
aortic valve,cardiovascular disease,complication,coronary artery bypass,dyslipidemias,hypercholesterolemia,genetic disorders,genetics,lipid metabolism disorders,valve replacement
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