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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
PubMed

Insights

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

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.
Abstract

Keywords:
Aortic stenosisCase reportCoronary artery diseaseFamilial hypercholesterolemia

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