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Aneurysm I: Introduction

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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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...

Thoracic Aorta

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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...

Aortic Regurgitation I: Introduction

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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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Related Experiment Video

Updated: May 24, 2026

Murine Surgical Model of Topical Elastase Induced Descending Thoracic Aortic Aneurysm

Murine Surgical Model of Topical Elastase Induced Descending Thoracic Aortic Aneurysm

Published on: August 24, 2019

Genetics of thoracic aortic aneurysms.

Guillaume Jondeau¹, Catherine Boileau

¹AP-HP, Centre de Référence National pour le syndrome de Marfan et apparentés, Hôpital Bichat, Paris, France. guillaume.jondeau@bch.aphp.fr

Current Atherosclerosis Reports

|March 15, 2012

Summary

Genetic discoveries are rapidly advancing the understanding of thoracic aortic aneurysm (TAA). Research identifies new genes and clarifies phenotypes, improving TAA diagnosis and management.

Area of Science:

Genetics
Cardiovascular Medicine
Pathophysiology

Background:

Thoracic aortic aneurysm (TAA) genetics is increasingly understood.
Novel genes beyond FBN1 (Marfan syndrome) are identified, including TGFBR1, TGFBR2, ACTA2, MYH11, and SMAD3.
These genetic mutations are typically autosomal dominant.

Purpose of the Study:

To review the phenotypes associated with genetic mutations causing TAA.
To discuss the clinical consequences of recent genetic findings in TAA.
To highlight the genetic basis of bicuspid aortic valve and non-syndromic TAA.

Main Methods:

Literature review of genetic studies in thoracic aortic aneurysm.
Analysis of reported gene mutations and associated phenotypes.

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Synthesis of current understanding of TAA pathophysiology.

Main Results:

Identification of multiple genes linked to TAA, including FBN1, TGFBR1, TGFBR2, ACTA2, MYH11, and SMAD3.
Recognition of distinct phenotypes associated with specific gene mutations.
Growing evidence for genetic factors in bicuspid aortic valve and non-syndromic TAA.

Conclusions:

Genetic factors play a significant role in the development of thoracic aortic aneurysm.
Understanding these genetic underpinnings is crucial for improved diagnosis and patient management.
Further research into TAA genetics will refine clinical approaches and identify at-risk individuals.