Aortic valve involvement and premature coronary artery disease in Heterozygous Familial Hypercholesterolemia
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


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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Article Type: Case Report

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

Publication date: 13 Sep 2011

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Article Downloads: 1142

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