Supravalvular aortic stenosis in homozygous familial hypercholesterolemia.
نویسندگان
چکیده
First Department of Cardiology AHEPA University Hospital 1 St. Kiriakidi St. 546 36 Thessaloniki, Greece e-mail: s_mouratoglou@ yahoo.gr
منابع مشابه
Familial hypercholesterolemia: a case report
Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...
متن کاملFamilial hypercholesterolemia: A case report
Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individuals cardiov...
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A 61-year-old male with homozygous familial hypercholesterolemia presented with dyspnea and syncope. He had been treated with low-density lipoprotein apheresis for 26 years. Echocardiography and computed tomography showed severe valvular and supravalvular aortic stenosis. Computed tomography and cardiac catheterization revealed a severely calcified narrowed aortic root and an occlusion in the p...
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Homozygous Familial Hypercholestrolaemia is a metabolic disorder which usually presents with early cardiac disease ranging from premature ischaemic heart disease, including myocardial infarction to aortic root stenosis, but rarely it may present with earlier anginal symptoms due to supravalvular aortic stenosis. A 17-year old South Asian boy presented himself with chest pain associated with mil...
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The lesions of the aortic root, which are supravalvular aortic stenosis and coronary ostial stenosis, in familial hypercholesterolemia were studied using two-dimensional echocardiography. The subjects were 25 heterozygotes, six homozygotes and 30 control subjects. The internal diameters of the aortic ring, the sinus of Valsalva and the supravalvular aortic ring were measured. Measurement variat...
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ورودعنوان ژورنال:
- Hellenic journal of cardiology : HJC = Hellenike kardiologike epitheorese
دوره 54 5 شماره
صفحات -
تاریخ انتشار 2013