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Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia
Journal article   Open access   Peer reviewed

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia

Akl C. Fahed, Kamel Shibbani, Rabih R. Andary, Mariam T. Arabi, Robert H. Habib, Denis D. Nguyen, Fady F. Haddad, Elie Moubarak, Georges Nemer, Sami T. Azar, …
Cholesterol, Vol.2017, pp.3685265-7
01/01/2017
DOI: 10.1155/2017/3685265
PMCID: PMC5518507
PMID: 28761763
url
https://doi.org/10.1155/2017/3685265View
Published (Version of record) Open Access

Abstract

Valvular heart disease frequently occurs as a consequence of premature atherosclerosis in individuals with familial hypercholesterolemia (FH). Studies have primarily focused on aortic valve calcification in heterozygous FH, but there is paucity of data on the incidence of valvular disease in homozygous FH. We performed echocardiographic studies in 33 relatively young patients ( mean age: 26 years) with homozygous FH (mean LDL of 447 mg/dL, 73% on LDL apheresis) to look for subclinical valvulopathy. Twenty-one patients had evidence of valvulopathy of the aortic or mitral valves, while seven subjects showed notable mitral regurgitation. Older patients were more likely to have aortic valve calcification (>21 versus <= 21 years: 59% versus 12.5%; p = 0.01) despite lower LDL levels at the time of the study (385 versus 513 mg/dL; p = 0.016). Patients with valvulopathy were older and had comparable LDL levels and a lower carotid intima-media thickness. Our data suggests that, in homozygous FH patients, valvulopathy (1) is present across a wide age spectrum and LDL levels and (2) is less likely to be influenced by lipid-lowering treatment. Echocardiographic studies that focused on aortic root thickening and stenosis and regurgitation are thus likely an effective modality for serial follow-up of subclinical valvular heart disease.
Endocrinology & Metabolism Life Sciences & Biomedicine Science & Technology

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