Cardiology & Vascular Research

Open Access ISSN: 2639-8486

Abstract


Familial Hypercholesterolemia with Multiple Large Tendinous Xanthomas, Severe Aortic Stenosis and Coronary Atherosclerosis in a Young Man: A Case Report from Sénégal

Authors: Fatou Aw, Leye Mohamed, Mingou Joseph, Sarr Simon Antoine, Affangla DA, Bodian Malick, Ndiaye Mouhamadou Bamba, Mbaye Alassane, Kane Adama, Diao Maboury, Kane Abdoul, Ba Serigne Abdou.

Background: FH is characterized by increased level of serum low-density lipoprotein (LDL) cholesterol with a high prevalence of coronary atherosclerosis.

Case Presentation: We herein present a case of a Familial hypercholesterolemia in a 18 years old patient with severe aortic stenosis and coronary artery atherosclerosis. In its antecedent a family history of dyslipidemia, the patient was diagnosed as having familial hypercholesterolemia. He had hypercholesterolemia and presented with multiple large tendinous xanthomas. Transthoracic echocardiogram finds a severe aortic stenosis, Coronary angiography showed severe multivessel coronary artery stenosis with left main coronary artery stenosis and a severe stenosis in the right coronary artery ostium. Genetic test indicates but was unfortunately not performed to identify the gene mutations responsible for the phenotype. The patient was placed on a statin with dietary modification. Replacement of his aortic valve with coronary artery bypass graft surgery was preconized.

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