Familial hypercholesterolemia with coarctation of aorta
نویسندگان
چکیده
منابع مشابه
Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B 100 (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. In the present study, we aimed at identifying the common LDLR and APOB gene mutations in an Iran...
متن کاملMolecular Diagnosis of Familial Hypercholesterolemia
Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...
متن کاملFamilial 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...
متن کاملCoarctation of the Aorta
Coarctation of the aorta is defined by a discrete narrowing of the aorta. Transcatheter systolic coarctation gradient 20 mm Hg is an indication for intervention with treatment choice guided by patient age and anatomy of obstruction. Follow-up imaging should be tailored to early identification of recoarctation/aneurysm with directed intervention. Hypertension is common in the aging patient with ...
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ژورنال
عنوان ژورنال: Journal of Postgraduate Medicine
سال: 2007
ISSN: 0022-3859
DOI: 10.4103/0022-3859.33863