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Related Concept Videos

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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Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

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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 III: Medical Management01:25

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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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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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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 dilation, genetic testing, and associated diagnoses.

Yuri A Zarate1, Elizabeth Sellars1, Tiffany Lepard1

  • 1Section of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|July 3, 2015
PubMed
Summary
This summary is machine-generated.

Genetic diagnoses are frequently linked to aortic dilation, with Marfan syndrome being common. A broad range of genetic conditions should be considered in diagnosis.

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Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Aortic dilation is a serious condition that can be linked to genetic factors.
  • Identifying the underlying genetic cause is crucial for diagnosis and management.
  • Connective tissue disorders are commonly associated with aortic dilation, but other genetic conditions also play a role.

Purpose of the Study:

  • To identify the genetic diagnoses most frequently associated with aortic dilation in a large patient population.
  • To describe the outcomes of genetic testing in patients with aortic dilation.

Main Methods:

  • Retrospective review of patient records with aortic dilation identified via echocardiogram database.
  • Analysis of data from various chromosomal microarray platforms and molecular diagnostic techniques.
  • Evaluation of genetic testing results, including next-generation sequencing panels and microarrays.

Main Results:

  • 17% of 715 patients had confirmed or presumptive genetic diagnoses.
  • Marfan syndrome was the most frequent genetic disorder identified.
  • Genetic testing revealed pathogenic abnormalities in 25% of patients undergoing next-generation sequencing and 26% of those undergoing microarrays.

Conclusions:

  • The differential diagnosis for aortic dilation is extensive, including conditions beyond typical connective tissue disorders.
  • Genetic evaluation is recommended to aid in diagnosing patients with aortic dilation.
  • Considering a broad spectrum of genetic diagnoses can improve patient care.