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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 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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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 III: Interprofessional Care01:26

Aneurysm III: Interprofessional Care

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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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Aneurysm I: Introduction01:30

Aneurysm I: Introduction

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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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Long-term outcomes in heritable thoracic aortic disease.

Elizabeth N Robertson1,2, Paul G Bannon1,3,4, Richmond W Jeremy1,2,3

  • 1Central Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.

Frontiers in Cardiovascular Medicine
|October 31, 2022
PubMed
Summary

Heritable aortic diseases, including Marfan syndrome and newer genetic conditions, show comparable survival rates with surveillance. However, diagnosis delays in newer syndromes increase aortic dissection risk, necessitating frequent surgical interventions.

Keywords:
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Area of Science:

  • Cardiovascular Genetics
  • Aortic Diseases
  • Syndromic Aortopathies

Background:

  • Heritable aortic aneurysms are significant causes of morbidity and mortality.
  • Marfan syndrome (MFS) is well-known, but newer genetic syndromes and non-syndromal heritable aortic diseases are less understood clinically.
  • Clinical outcomes and prognosis for these less common conditions require further investigation.

Purpose of the Study:

  • To investigate the presentation, clinical course, and survival of patients with syndromal (Loeys-Dietz, aneurysm-osteoarthritis, ACTA2 syndrome) and non-syndromal heritable aortic diseases.
  • To compare these outcomes with those of patients with Marfan syndrome.
  • To identify differences in diagnosis age, initial presentation, and long-term management needs.

Main Methods:

  • Longitudinal follow-up of 536 individuals with various heritable aortic diseases from 1990 to 2022.
  • Comparison of age at diagnosis, presenting aortic dissection rates, overall survival, dissection-free survival, and surgery-free survival between different genetic groups.
  • Statistical analysis to determine differences in clinical outcomes and disease progression.

Main Results:

  • Diagnosis age varied significantly, with MFS diagnosed earlier than other syndromic and non-syndromal conditions.
  • Aortic dissection was a more frequent presenting event in non-syndromal heritable aortopathy and Loeys-Dietz syndrome compared to MFS.
  • While 10-year survival was comparable across groups, survival free of surgery was significantly lower in Loeys-Dietz and aneurysm-osteoarthritis syndromes, indicating a higher need for interventions.

Conclusions:

  • Delayed diagnosis in newer syndromic and non-syndromal heritable aortopathies is associated with higher rates of presentation with aortic dissection.
  • Despite comparable overall survival with surveillance, the need for surgical intervention remains high across all heritable aortic disease groups.
  • Further research into early diagnosis and tailored management strategies for diverse heritable aortic conditions is crucial.