Aortic valve involvement and premature coronary artery disease in Heterozygous Familial Hypercholesterolemia
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Hakkı Şimşek, Mustafa Tuncer, Musa Şahin 1 * , Hasan Ali Gümrükçüoğlu, Beyhan Eryonucu
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1 Osmaniye State Hospital, Cardiology Department, Osmaniye, Turkey* Corresponding Author

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by an elevation of LDL cholesterol concentration in plasma leading to deposition of excess LDL-derived cholesterol in tendons, skin and arteries. We studied a 34 year old woman who applied to dermatology department due to multiple xanthomas. Cardiac consulting was demanded by dermatology department to determine development of atherosclerosis. Patient had no risk factor and symptom related to cardiac problem, except family history included premature coronary artery disease (CAD). On examination systolic murmur was present in aortic area. Echocardiography showed valvular severe aortic stenosis with a good left ventricle systolic function and severe left ventricular hypertrophy. The coronary arteriogram showed widespread CAD involving 3 coronary vessels. We report a case of heterozygous FH type II a with premature CAD and aortic valve involvement.

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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.

Article Type: Case Report

J Clin Exp Invest, Volume 2, Issue 3, September 2011, 308-311

https://doi.org/10.5799/ahinjs.01.2011.03.0061

Publication date: 13 Sep 2011

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