{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T03:54:44Z","timestamp":1769831684321,"version":"3.49.0"},"reference-count":25,"publisher":"Wiley","license":[{"start":{"date-parts":[[2017,7,6]],"date-time":"2017-07-06T00:00:00Z","timestamp":1499299200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Lebanese National Center for Scientific Research"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cholesterol"],"published-print":{"date-parts":[[2017,7,6]]},"abstract":"<jats:p>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\u2009mg\/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 (&gt;21 versus \u226421 years: 59% versus 12.5%; <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:mi>p<\/mml:mi><\/mml:mrow><\/mml:math> = 0.01) despite lower LDL levels at the time of the study (385 versus 513\u2009mg\/dL; <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mrow><mml:mi>p<\/mml:mi><\/mml:mrow><\/mml:math> = 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 <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mo stretchy=\"false\">(<\/mml:mo><mml:mn mathvariant=\"normal\">1<\/mml:mn><mml:mo stretchy=\"false\">)<\/mml:mo><\/mml:math> is present across a wide age spectrum and LDL levels and <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mo stretchy=\"false\">(<\/mml:mo><mml:mn mathvariant=\"normal\">2<\/mml:mn><mml:mo stretchy=\"false\">)<\/mml:mo><\/mml:math> 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.<\/jats:p>","DOI":"10.1155\/2017\/3685265","type":"journal-article","created":{"date-parts":[[2017,7,6]],"date-time":"2017-07-06T21:04:55Z","timestamp":1499375095000},"page":"1-7","source":"Crossref","is-referenced-by-count":21,"title":["Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia"],"prefix":"10.1155","volume":"2017","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3564-4944","authenticated-orcid":true,"given":"Akl C.","family":"Fahed","sequence":"first","affiliation":[{"name":"Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kamel","family":"Shibbani","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rabih R.","family":"Andary","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariam T.","family":"Arabi","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert H.","family":"Habib","sequence":"additional","affiliation":[{"name":"The Society of Thoracic Surgeons, Chicago, IL, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Denis D.","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Hepatology, and Nutrition, Boston Children\u2019s Hospital, Boston, MA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fady F.","family":"Haddad","sequence":"additional","affiliation":[{"name":"Surgery, American University of Beirut Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elie","family":"Moubarak","sequence":"additional","affiliation":[{"name":"National LDL Apheresis Center, Dahr El Bacheck Government University Hospital, Dahr El-Bachek, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2157-5279","authenticated-orcid":true,"given":"Georges","family":"Nemer","sequence":"additional","affiliation":[{"name":"Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6212-7080","authenticated-orcid":true,"given":"Sami T.","family":"Azar","sequence":"additional","affiliation":[{"name":"Internal 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