Table of Contents
Volume 2017, Article ID 3685265, 7 pages
Research Article

Premature Valvular Heart Disease in Homozygous Familial Hypercholesterolemia

1Division of Cardiology, Massachusetts General Hospital, Boston, MA, USA
2Departments of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon
3The Society of Thoracic Surgeons, Chicago, IL, USA
4Department of Gastroenterology, Hepatology, and Nutrition, Boston Children’s Hospital, Boston, MA, USA
5Surgery, American University of Beirut Medical Center, Beirut, Lebanon
6National LDL Apheresis Center, Dahr El Bacheck Government University Hospital, Dahr El-Bachek, Lebanon
7Biochemistry and Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon
8Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon

Correspondence should be addressed to Akl C. Fahed; ude.dravrah.liam@dehaf and Fadi F. Bitar; bl.ude.bua@ratibf

Received 20 January 2017; Revised 18 April 2017; Accepted 29 May 2017; Published 6 July 2017

Academic Editor: Maurizio Averna

Copyright © 2017 Akl C. Fahed et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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%; = 0.01) despite lower LDL levels at the time of the study (385 versus 513 mg/dL; = 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 is present across a wide age spectrum and LDL levels and 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.