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Complex Coronary Artery Lesions in a Young Woman With an Acute Myocardial Infarction and Genetically Confirmed Familial Hypercholesterolemia: A Case Report and Literature Review From a Developing Country. | LitMetric

AI Article Synopsis

  • - Familial hypercholesterolemia (FH) is a genetic disorder that causes high levels of low-density lipoprotein cholesterol (LDL-C) from a young age, increasing the risk for early cardiovascular diseases due to mutations in key cholesterol-related genes.
  • - A 44-year-old Vietnamese woman experienced chest pain and was diagnosed with acute myocardial infarction (AMI), leading to the identification of FH through clinical signs, elevated LDL-C levels, and a Dutch Lipid Clinic Network (DLCN) score of 10.
  • - The patient underwent a successful reverse T-stenting procedure for her coronary arteries and had a genetic test confirming a mutation in the LDL-R gene, reinforcing the diagnosis of FH; she has since

Article Abstract

Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C) in the blood from an incredibly early age. This condition leads to the early development of atherosclerotic arterial diseases, which can manifest even in the first few decades of life. Mutations in genes related to the LDL receptor (LDL-R), apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) are the main molecular mechanisms causing familial hypercholesterolemia. This case involves a 44-year-old Vietnamese female who presented at the emergency department with chest pain and was diagnosed with acute myocardial infarction (AMI) complicated by cardiogenic shock. Clinical signs and an elevated LDL-C level pointed to prolonged exposure to high cholesterol. A Dutch Lipid Clinic Network (DLCN) score of 10 further supported the diagnosis of FH. The reverse T-stenting and small protrusion (TAP) technique was selected and successfully employed to stent the LMCA, left anterior descending artery (LAD) and left circumflex artery (LCx). This technique was chosen due to its simplicity and rapid execution, making it particularly suitable in situations of cardiogenic shock where time-consuming procedures should be avoided. Genetic testing confirmed a heterozygous pathogenic mutation in the LDL-R gene, corroborating the clinical diagnosis of FH. The patient's condition has gradually stabilized, and they have been discharged from the hospital. The patient is currently being monitored as an outpatient at the cardiology clinic. This case emphasizes the importance of considering FH in patients with premature cardiovascular events by applying the clinical diagnostic criteria and confirming by genetic analysis. It also highlights advanced interventional techniques for managing complex coronary lesions, such as reverse TAP.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11440014PMC
http://dx.doi.org/10.7759/cureus.68212DOI Listing

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