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Related Concept Videos

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...
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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...
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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...
Thoracic Aorta01:15

Thoracic Aorta

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,...
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...
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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Murine Surgical Model of Topical Elastase Induced Descending Thoracic Aortic Aneurysm
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Practical genetics of thoracic aortic aneurysm.

John A Elefteriades1, Pawel Pomianowski

  • 1Aortic Institute at Yale-New Haven, Yale University School of Medicine, New Haven, CT 06510, USA. john.elefteriades@yale.edu

Progress in Cardiovascular Diseases
|September 3, 2013
PubMed
Summary

This chapter explores the genetics of thoracic aortic aneurysm, covering its history, familial patterns, and Mendelian transmission. It also details molecular genetics at DNA and RNA levels, including a novel RNA Signature test.

Keywords:
AneurysmAortic dissectionBicuspid aortic valveGeneticsIMTMMPsMarfan diseaseMutationsintimal–medial thicknessmatrix metalloproteinases

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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Molecular Biology

Background:

  • Thoracic aortic aneurysm (TAA) is a serious condition with a significant genetic component.
  • Understanding the genetic basis of TAA is crucial for diagnosis and treatment.
  • Familial patterns and Mendelian inheritance have been observed in TAA.

Purpose of the Study:

  • To provide a comprehensive overview of the genetics of thoracic aortic aneurysm.
  • To review the historical discoveries and evolving understanding of TAA genetics.
  • To discuss current research, including molecular genetics and novel diagnostic approaches.

Main Methods:

  • Historical review of genetic studies in TAA.
  • Analysis of Mendelian genetics and transmission patterns.
  • Examination of molecular genetics at DNA and RNA levels.

Main Results:

  • TAA exhibits familial patterns and follows Mendelian inheritance.
  • Molecular genetic factors at both DNA and RNA levels contribute to TAA.
  • An investigational "RNA Signature" test shows promise for TAA detection.

Conclusions:

  • The genetics of TAA is complex, involving multiple molecular pathways.
  • Advances in molecular genetics offer new insights into TAA pathogenesis.
  • Novel diagnostic tools like the RNA Signature test may improve TAA management.