Gas Chromatography and Flame-Ionization Detection of Non-Cholesterol Sterols as Indicators of Cholesterol Absorption and Synthesis in 158 Chinese Individuals with Normolipidemia, Hyperlipidemia, and Familial Hypercholesterolemia.

BACKGROUND There are limited studies on the effects of cholesterol homeostasis in populations at high risk for cardiovascular disease. We aimed to use gas chromatography and flame-ionization detection (GC-FID) of non-cholesterol sterols as indicators of cholesterol absorption and synthesis. Sterol indicators of cholesterol absorption included campesterol, stigmasterol, and sitosterol.

Speckle-Tracking Echocardiography for Detecting Subclinical Left Ventricular Dysfunction in Patients With Familial Hypercholesterolemia.

Myocardial ischemia and left ventricular dysfunction have been documented in young adults with familial hypercholesterolemia. We investigated whether speckle-tracking echocardiography can be used to detect subclinically impaired global and regional myocardial function in patients with this lipid disorder. This single-center study included 47 patients with familial hypercholesterolemia and 37 healthy control subjects who underwent transthoracic Doppler echocardiography and speckle-tracking echocardiography from January 2003 through December 2016.

Case Report: Cardiac Surgery and Combined Lipid-Lowering Drug Therapy for Homozygous Familial Hypercholesterolemia.

Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant, hereditary, metabolic disease. HoFH patients exhibit severe coronary stenosis and valvular disease, which may result in sudden death, even during adolescence. The challenges faced during surgery and the poor curative effect of conventional lipid-lowering therapy create a treatment bottleneck.

Myocardial layer-specific analysis in patients with heterozygous familial hypercholesterolemia using speckle tracking echocardiography.

Objective: Familial hypercholesterolemia (FH) is the most common and serious monogenic disorder of lipid metabolism, causing premature coronary heart disease (CHD) due to accelerated atherosclerosis from birth, and the study of left ventricular (LV) function of this disease is seldom. The purpose of this study was to explore the value of layer-specific strain on assessing the early damage of LV function in asymptomatic and left ventricular ejection fraction (LVEF) well-preserved patients with heterozygous FH (HeFH).

Methods: A total of 49 patients aged 38.

Four-year imaging follow-up of a homozygous familial hypercholesterolaemia patient: atherosclerosis ingravescence and coronary flow velocity reserve reduced gradually. Case report.

Homozygous familial hypercholesterolemia (HoFH) is a rare heredity disease in which severe cardiovascular atherosclerosis develops from birth due to severe low density lipoprotein-receptor (LDL-R) defects inherited from both heterozygouscarriers of FH (HeFH) parents. This case describes a HoFH patient who underwent medical imaging examination for 4 years over a course of treatment. In addition to the imaging techniques which demonstrated the development of cardiovascular atherosclerosis ingravescent, transthoracic Doppler echocardiography noninvasively and accurately detected the position of atherosclerotic calcifications and evaluated the hemodynamicsof the coronary flow.

Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C). It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR) gene. Currently, the methods of whole genome sequencing or whole exome sequencing for screening mutations in familial hypercholesterolemia are not applicable in China due to high cost.

Gas chromatography analysis of serum cholesterol synthesis and absorption markers used to predict the efficacy of simvastatin in patients with coronary heart disease.

Objectives: We investigated the changes in cholesterol absorption and synthesis markers before and after simvastatin therapy in Chinese patients with coronary heart disease.

Design And Method: We developed a gas chromatography method to identify cholesterol synthesis and absorption markers and measured them in patients with coronary heart disease. We then tested their use in predicting the efficacy of simvastatin in lowering cholesterol.

Analysis of coronary flow haemodynamics in homozygous familial hypercholesterolaemic adolescents with aortic supravalvular stenosis.

Objective: To study coronary artery haemodynamics in adolescents with homozygous familial hypercholesterolaemia and aortic supravalvular stenosis.

Methods: Patients diagnosed with familial hypercholesterolaemia who were younger than 16 years and who had undergone transthoracic echocardiography from 2007 to 2010 were included in this study. We included patients with homozygous familial hypercholesterolaemia and aortic supravalvular stenosis and those with heterozygous familial hypercholesterolaemia.

Noninvasive evaluation of coronary flow velocity reserve in homozygous familial hypercholesterolemia by transthoracic Doppler echocardiography.

Objective: To evaluate the value of transthoracic Doppler echocardiography (TTDE) of the left anterior descending coronary for the detection of early abnormalities of coronary arteries in asymptomatic patients with homozygous familial hypercholesterolemia (HoFH).

Methods: Seventeen asymptomatic patients with HoFH and 10 controls had plasma total cholesterol, low-density lipoprotein (LDL) cholesterol, and triglycerides measured and underwent TTDE of their left coronary descending artery to determine peak and mean flow velocities under basal conditions and under hyperemia induced by adenosine infusion. Coronary flow velocity reserve (CFVR) was calculated from the mean flow velocities.

[Research progress on the association between genetic variations in lipid metabolism and premature coronary artery disease].

Recent research has demonstrated a strong genetic linkage between premature coronary artery disease (pCAD) and dyslipidemia. Genetic variation in lipid metabolism can lead to impediment of lipid anabolism and catabolism, which promotes vascular arterosclerogenesis. Currently, related studies were focused on: (1) Gene mutations related to low density lipoprotein metabolism, such as low density lipoprotein receptor, apolipoprotein B, apolipoprotein E; (2) Gene mutations related to high density lipoprotein metabolism-related genes, such as ATP binding cassette transporter, apolipoprotein A1, lipoprotein lipase; (3) low density lipoprotein receptor-related genes: Adiponectin.