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A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

A Familial Hypercholesterolemia Human Liver Chimeric Mouse Model Using Induced Pluripotent Stem Cell-derived Hepatocytes

Published on: September 15, 2018

Addressing comprehensive complexities a striking familial hypercholesterolemia case study.

Shazia Rasheed¹, Ghulam Kubra¹, Lubna Baqai²

¹Non-Invasive Cardiology at National Institute of Cardiovascular Diseases (NICVD), Rafiqui (H.J.) Shaheed Road, Karachi, 75510, Pakistan.

The Egyptian Heart Journal : (EHJ) : Official Bulletin of the Egyptian Society of Cardiology

|April 20, 2024

Summary

This summary is machine-generated.

Familial hypercholesterolemia (FH) management requires early intervention. This case highlights advanced cardiovascular complications and the need for multidisciplinary care in young FH patients.

Keywords:

Aortic stenosis Case report Coronary artery disease Familial hypercholesterolemia

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LDL Cholesterol Uptake Assay Using Live Cell Imaging Analysis with Cell Health Monitoring

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Area of Science:

Cardiovascular Medicine
Genetics
Metabolic Disorders

Background:

Familial hypercholesterolemia (FH) is a rare genetic disorder causing high LDL cholesterol and early atherosclerosis.
FH significantly increases the risk of premature coronary heart disease and vascular complications.

Purpose of the Study:

To present a case study of a 16-year-old female with familial hypercholesterolemia.
To explore the cardiovascular complexities and management of FH in adolescents.

Main Methods:

Diagnostic evaluation including ECG, troponin levels, and lipid profile.
Advanced imaging: transthoracic echocardiography, CT angiography, and cardiac catheterization.
Multidisciplinary interventions tailored to the patient's condition.

Main Results:

The patient presented with chest pain and dyspnea, indicative of acute cardiovascular events.
Profound dyslipidemia and significant aortic and mitral valve involvement were identified.
Interventions led to notable improvements in ventricular function and valve regurgitation.

Conclusions:

Early diagnosis and comprehensive management are crucial for addressing FH's cardiovascular challenges.
Aggressive lipid-lowering therapies and advanced imaging are vital for FH patients.
Multidisciplinary care is essential for optimizing outcomes in complex FH cases.