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Related Concept Videos

Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

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...
Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

Aneurysm II: Clinical Manifestations and Diagnostic Studies

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...
Aneurysm I: Introduction01:30

Aneurysm I: Introduction

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...
Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

Atherosclerosis II: Clinical Manifestations and Diagnostic Tests

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)...
Aneurysm III: Interprofessional Care01:26

Aneurysm III: Interprofessional Care

Aneurysm management involves either conservative medical therapy or surgical intervention, depending on the size and symptoms of the aneurysm. Conservative management is generally reserved for smaller, asymptomatic aneurysms, while larger or symptomatic aneurysms often necessitate surgical repair.Conservative Medical TherapyFor small, asymptomatic aneurysms, particularly abdominal aortic aneurysms (AAA) less than 5.5 centimeters in diameter, conservative medical therapy is recommended. This...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: Jun 13, 2026

Measurement of Pulse Propagation Velocity, Distensibility and Strain in an Abdominal Aortic Aneurysm Mouse Model
09:32

Measurement of Pulse Propagation Velocity, Distensibility and Strain in an Abdominal Aortic Aneurysm Mouse Model

Published on: February 23, 2020

Genetic testing in aortic aneurysm disease: CON.

John A Elefteriades1

  • 1Section of Cardiac Surgery, Department of Surgery, Yale University School of Medicine, Yale-New Haven Hospital, PO Box 208039, New Haven, CT 06520-8039, USA. john.elefteriades@yale.edu

Cardiology Clinics
|May 11, 2010
PubMed
Summary

Genetic research advances thoracic aortic aneurysm and dissection understanding. However, routine genetic testing is currently not clinically essential or practical for patients.

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Measurement of Pulse Propagation Velocity, Distensibility and Strain in an Abdominal Aortic Aneurysm Mouse Model
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Area of Science:

  • Cardiovascular Surgery
  • Genetics
  • Aortic Disease

Background:

  • Thoracic aortic surgery is complex and high-risk.
  • Thoracic aortic aneurysm and dissection (TAAD) are serious conditions.
  • Advances in genetic sequencing offer new insights into TAAD.

Discussion:

  • Genetic linkage analysis and sequencing have identified key genes related to TAAD.
  • These genetic discoveries are crucial for understanding disease mechanisms.
  • This article presents a counterpoint regarding the immediate clinical utility of genetic testing.

Key Insights:

  • Genetic research is enhancing the understanding of thoracic aortic diseases.
  • Current genetic testing is not deemed practical or essential for routine clinical use.
  • The focus remains on improving surgical outcomes and patient care.

Outlook:

  • Future research may establish clearer clinical guidelines for genetic testing in TAAD.
  • Continued investigation into genetic factors will refine disease prediction and management.
  • Integrating genetic knowledge into clinical practice requires further development and validation.