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Related Concept Videos

Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

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Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
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Thoracic Aorta01:15

Thoracic Aorta

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The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
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Aneurysm I: Introduction01:30

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An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

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Aortic valve regurgitation (AR) occurs when the aortic valve fails to close properly, allowing blood to flow backward from the aorta into the left ventricle. This backflow can result in two distinct clinical presentations: acute and chronic AR, each characterized by its own set of symptoms and physical findings.Acute Aortic RegurgitationAcute AR presents with a sudden onset of severe symptoms. Patients typically experience profound dyspnea (shortness of breath), chest pain, and signs of left...
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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Related Experiment Video

Updated: Aug 9, 2025

Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
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Structural genomic variants in thoracic aortic disease.

Josephina A N Meester1, Anne Hebert1, Bart L Loeys1,2

  • 1Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

Current Opinion in Cardiology
|February 16, 2023
PubMed
Summary
This summary is machine-generated.

Structural genomic variants, particularly copy number variants, are increasingly recognized causes of thoracic aortic and aortic valve disease. Advances in next-generation sequencing have accelerated their identification, though complex variants like inversions remain under investigation.

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Genomic Medicine

Background:

  • Structural genomic variants are implicated in various diseases, including intellectual disability, neuropsychiatric disorders, cancer, and congenital heart disease.
  • Aortopathy, encompassing thoracic aortic and aortic valve disease, is a growing area of interest for genetic investigations.

Purpose of the Study:

  • To review the current understanding of structural genomic variants, with a focus on copy number variants (CNVs), in the pathogenesis of thoracic aortic and aortic valve disease.
  • To highlight recent findings and advancements in the field.

Main Methods:

  • Review of current literature on structural variants and aortopathy.
  • Discussion of copy number variants identified in various conditions like thoracic aortic aneurysms, bicuspid aortic valve disease, Williams-Beuren syndrome, and Turner syndrome.
  • Mention of novel technologies such as next-generation sequencing and whole genome sequencing.

Main Results:

  • Copy number variants are established causes of aortopathy, with significant knowledge growth over the past 15 years.
  • Specific CNVs associated with thoracic aortic aneurysms, bicuspid aortic valve disease, Williams-Beuren syndrome, and Turner syndrome are detailed.
  • The first inversion disrupting FBN1, a cause of Marfan syndrome, has been recently reported.

Conclusions:

  • The role of CNVs in aortopathy is well-established and increasingly investigated in diagnostics.
  • More complex structural variants, like inversions, are emerging areas of research requiring advanced sequencing technologies like whole genome sequencing.