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Supravalvular Aortic Stenosis in Homozygous Familial Hypercholesterolemia: Contemporary Management.
JACC. Case reports. 2024 May 16
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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