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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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Aortic Regurgitation I: Introduction01:15

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IntroductionAortic regurgitation is characterized by the backward flow of blood from the aorta into the left ventricle during diastole and arises from the improper closure of the aortic valve. This condition results in left ventricular volume overload and can stem from both acute and chronic etiologies, each contributing uniquely to the disease's progression and symptomatology.Acute and Chronic CausesAcute aortic regurgitation often results from events that suddenly impair the integrity of the...
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Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

Aortic Regurgitation II: Clinical Features and Diagnostic Tests

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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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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 III: Medical Management01:25

Aortic Regurgitation III: Medical Management

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Aortic regurgitation (AR) is when the aortic valve does not close or seal properly, leading to backward blood circulation from the aorta into the left ventricle during diastole. Common causes of AR include rheumatic heart disease, congenital valve defects, and aortic root dilation. Managing AR requires a multifaceted approach to alleviate symptoms, preserve left ventricular function, and address the underlying cause of the regurgitation. Patients with symptomatic AR or significant left...
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Aneurysm III: Interprofessional Care01:26

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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...
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Related Experiment Video

Updated: Aug 31, 2025

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Comparative Risks of Initial Aortic Events Associated With Genetic Thoracic Aortic Disease.

Ellen S Regalado1, Shaine A Morris2, Alan C Braverman3

  • 1Department of Internal Medicine, McGovern Medical School, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.

Journal of the American College of Cardiology
|August 25, 2022
PubMed
Summary

Heritable thoracic aortic disease (HTAD) risk varies by gene and variant type. Specific gene variants, like those in ACTA2 and TGFBR2, increase aortic event risk, especially with childhood onset, guiding personalized management.

Keywords:
Loeys-Dietz syndromeaortic dissectionpathogenic variantprecision medicinethoracic aortic aneurysm

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Area of Science:

  • Cardiovascular Genetics
  • Aortic Diseases
  • Medical Genomics

Background:

  • Heritable thoracic aortic disease (HTAD) is linked to pathogenic variants in 11 genes.
  • Limited data exist to stratify aortic event risks associated with specific HTAD genes.

Purpose of the Study:

  • To compare the risk of first aortic events (thoracic aortic aneurysm surgery or dissection) among 7 HTAD genes.
  • To analyze risk differences based on variant types within each gene.

Main Methods:

  • Retrospective cohort study of 1,028 probands and relatives with rare variants in 7 HTAD genes.
  • Assessment of aortic event risk stratified by gene, variant type, sex, proband status, and recruitment location.

Main Results:

  • Significant differences in aortic event risk were found among smooth muscle contraction genes (ACTA2, MYLK, PRKG1) and Loeys-Dietz syndrome genes (SMAD3, TGFB2, TGFBR1, TGFBR2).
  • Variants in ACTA2, MYLK, PRKG1, and SMAD3 showed higher cumulative incidence of type A aortic dissection than surgery.
  • Variants in ACTA2, PRKG1, and TGFBR2 had higher cumulative incidence of type B aortic dissection.
  • Specific ACTA2 and TGFBR2 variants were linked to higher aortic event risk with childhood onset, even after adjustments.

Conclusions:

  • Gene- and variant-specific data are crucial for managing HTAD.
  • Findings support personalized aortic surveillance and clinical management strategies for individuals with HTAD.