Table of Contents
Cholesterol
Volume 2017, Article ID 3685265, 7 pages
https://doi.org/10.1155/2017/3685265
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.

Linked References

  1. D. P. Barr, S. Rothbard, and H. A. Eder, “Atherosclerosis and aortic stenosis in hypercholesteremic xanthomatosis,” Journal of the American Medical Association, vol. 156, no. 10, pp. 943–947, 1954. View at Publisher · View at Google Scholar · View at Scopus
  2. S. Rothbard, J. W. C. Hagstrom, and J. P. Smith, “Aortic stenosis and myocardial infarction in hypercholesterolemic xanthomatosis,” American Heart Journal, vol. 73, no. 5, pp. 687–692, 1967. View at Publisher · View at Google Scholar · View at Scopus
  3. A. Wennevold and J. G. Jacobsen, “Acquired supravalvular aortic stenosis in familial hypercholesterolemia. A hemodynamic and angiocardiographic study,” The American Journal of Medicine, vol. 50, no. 6, pp. 823–827, 1971. View at Publisher · View at Google Scholar · View at Scopus
  4. D. L. Sprecher, E. J. Schaefer, K. M. Kent et al., “Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients,” The American Journal of Cardiology, vol. 54, no. 1, pp. 20–30, 1984. View at Google Scholar · View at Scopus
  5. A. C. Fahed and G. M. Nemer, “Familial hypercholesterolemia: The lipids or the genes?” Nutrition and Metabolism, vol. 8, article no. 23, 2011. View at Publisher · View at Google Scholar · View at Scopus
  6. A. Kawaguchi, C. Yutanid, and A. Yamamoto, “Hypercholesterolemic valvulopathy: An aspect of malignant atherosclerosis,” Therapeutic Apheresis, vol. 7, no. 4, pp. 439–443, 2003. View at Publisher · View at Google Scholar · View at Scopus
  7. G.-J. R. T. Kate, S. Bos, A. Dedic et al., “Increased Aortic Valve Calcification in Familial Hypercholesterolemia Prevalence, Extent, and Associated Risk Factors,” Journal of the American College of Cardiology, vol. 66, no. 24, pp. 2687–2695, 2015. View at Publisher · View at Google Scholar · View at Scopus
  8. K. Alrasadi, K. Alwaili, Z. Awan, D. Valenti, P. Couture, and J. Genest, “Aortic calcifications in familial hypercholesterolemia: Potential role of the low-density lipoprotein receptor gene,” American Heart Journal, vol. 157, no. 1, pp. 170–176, 2009. View at Publisher · View at Google Scholar · View at Scopus
  9. S. J. Cowell, D. E. Newby, R. J. Prescott et al., “A randomized trial of intensive lipid-lowering therapy in calcific aortic stenosis,” New England Journal of Medicine, vol. 352, no. 23, pp. 2389–2397, 2005. View at Publisher · View at Google Scholar · View at Scopus
  10. A. B. Rossebo, T. R. Pedersen, and K. Boman, “Intensive lipid lowering with simvastatin and ezetimibe in aortic stenosis,” The New England Journal of Medicine, vol. 359, pp. 1343–1356, 2008. View at Publisher · View at Google Scholar
  11. K. L. Chan, K. Teo, J. G. Dumesnil, A. Ni, and J. Tam, “Effect of lipid lowering with rosuvastatin on progression of aortic stenosis: results of the aortic stenosis progression observation: measuring effects of rosuvastatin (ASTRONOMER) trial,” Circulation, vol. 121, no. 2, pp. 306–314, 2010. View at Publisher · View at Google Scholar · View at Scopus
  12. A. Kawaguchi, K. Miyatake, C. Yutani et al., “Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolemia,” American Heart Journal, vol. 137, no. 3, pp. 410–418, 1999. View at Publisher · View at Google Scholar · View at Scopus
  13. D. M. Kolansky, M. Cuchel, B. J. Clark et al., “Longitudinal Evaluation and Assessment of Cardiovascular Disease in Patients With Homozygous Familial Hypercholesterolemia,” American Journal of Cardiology, vol. 102, no. 11, pp. 1438–1443, 2008. View at Publisher · View at Google Scholar · View at Scopus
  14. A. C. Fahed, R. Khalaf, R. Salloum et al., “Variable expressivity and co-occurrence of LDLR and LDLRAP1 mutations in familial hypercholesterolemia: failure of the dominant and recessive dichotomy,” Molecular Genetics & Genomic Medicine, vol. 4, no. 3, pp. 283–291, 2016. View at Publisher · View at Google Scholar
  15. A. C. Fahed, R. M. Safa, F. F. Haddad et al., “Homozygous familial hypercholesterolemia in Lebanon: a genotype/phenotype correlation,” Molecular Genetics and Metabolism, vol. 102, no. 2, pp. 181–188, 2011. View at Publisher · View at Google Scholar · View at Scopus
  16. A. C. Fahed, R. H. Habib, G. M. Nemer et al., “Low-density lipoprotein levels and not mutation status predict Intima-media thickness in familial hypercholesterolemia,” Annals of Vascular Surgery, vol. 28, no. 2, pp. 421–426, 2014. View at Publisher · View at Google Scholar · View at Scopus
  17. T. W. Rooke, A. T. Hirsch, S. Misra et al., “ACCF/AHA Focused Update of the Guideline for the Management of Patients With Peripheral Artery Disease (updating the 2005 guideline): a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines,” Journal of the American College of Cardiology, vol. 58, no. 18, pp. 2020–2045, 2011. View at Google Scholar
  18. Z. Awan, K. Alrasadi, G. Francis et al., “Vascular Calcifications in Homozygote Familial Hypercholesterolemia,” Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 28, no. 4, pp. 777–785, 2008. View at Publisher · View at Google Scholar
  19. J. M. Hoeg, I. M. Feuerstein, and E. E. Tucker, “Detection and quantitation of calcific atherosclerosis by ultrafast computed tomography in children and young adults with homozygous familial hypercholesterolemia,” Arteriosclerosis, Thrombosis, and Vascular Biology, vol. 14, no. 7, pp. 1066–1074, 1994. View at Publisher · View at Google Scholar · View at Scopus
  20. S. Rafeiyian, S. Mojtahedzadeh, M. Hekmat et al., “Supravalvular and valvular aortic stenosis in heterozygous familial hypercholesterolemia,” Medical Principles and Practice, vol. 16, no. 4, pp. 315–317, 2007. View at Publisher · View at Google Scholar · View at Scopus
  21. G. J. Brook, S. Keidar, M. Boulos et al., “Familial homozygous hypercholesterolemia: Clinical and cardiovascular features in 18 patients,” Clinical Cardiology, vol. 12, no. 6, pp. 333–338, 1989. View at Publisher · View at Google Scholar · View at Scopus
  22. S. Aubert, N. Bonnet, P. Leprince, T. Barreda, A. Pavie, and I. Gandjbakhch, “Surgical approach to aortic root lesions in patients with homozygous familial hypercholesterolemia and Takayasu arteritis,” Journal of Thoracic and Cardiovascular Surgery, vol. 130, no. 2, pp. 573-574, 2005. View at Publisher · View at Google Scholar · View at Scopus
  23. C. Pitsavos, K. Toutouzas, J. Dernellis et al., “Aortic stiffness in young patients with heterozygous familial hypercholesterolemia,” American Heart Journal, vol. 135, no. 4, pp. 604–608, 1998. View at Publisher · View at Google Scholar · View at Scopus
  24. B. J. Cairns, S. Coffey, R. C. Travis et al., “A Replicated, Genome-Wide Significant Association of Aortic Stenosis With a Genetic Variant for Lipoprotein(a): Meta-Analysis of Published and Novel Data,” Circulation, vol. 135, no. 12, pp. 1181–1183, 2017. View at Publisher · View at Google Scholar
  25. R. Vongpromek, S. Bos, G.-J. R. ten Kate et al., “Lipoprotein(a) levels are associated with aortic valve calcification in asymptomatic patients with familial hypercholesterolaemia,” Journal of Internal Medicine, vol. 278, no. 2, pp. 166–173, 2015. View at Publisher · View at Google Scholar · View at Scopus