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Related Concept Videos

Aneurysm I: Introduction01:30

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...
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...
Aortic Regurgitation II: Clinical Features and Diagnostic Tests01:22

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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...
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...
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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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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Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

American journal of medical genetics. Part A·2016
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The relation between X chromosome parental origin and aortic stiffness in patients with Turner's syndrome: role of hypertension and antihypertensive drugs.

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X chromosome parental origin and aortic stiffness in turner syndrome.

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Spectrum of aortic valve abnormalities associated with aortic dilation across age groups in Turner syndrome.

Circulation. Cardiovascular imaging·2013
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Single-nucleotide polymorphism array genotyping is equivalent to metaphase cytogenetics for diagnosis of Turner syndrome.

Genetics in medicine : official journal of the American College of Medical Genetics·2013
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High levels of education and employment among women with Turner syndrome.

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Novel and Innovative Hybrid Technique for Type A Aortic Dissection
06:26

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Published on: March 28, 2025

Aortic dissection in Turner syndrome.

Carolyn A Bondy1

  • 1Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA. bondyc@mail.nih.gov

Current Opinion in Cardiology
|October 8, 2008
PubMed
Summary
This summary is machine-generated.

Women with Turner syndrome have a significantly increased risk of aortic dissection, over 100-fold higher. Early detection of cardiovascular anomalies and monitoring are crucial for managing this risk.

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Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
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Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Area of Science:

  • Cardiovascular Medicine
  • Genetics
  • Developmental Biology

Background:

  • Turner syndrome is a common genetic disorder affecting female development, characterized by short stature and congenital heart defects.
  • It is a leading cause of aortic dissection in young women, yet often under-recognized in non-pediatric literature.
  • This review compares aortic disease in Turner syndrome to Marfan-like syndromes and isolated aortic valve disease.

Purpose of the Study:

  • To review emerging knowledge on aortic disease characteristics in Turner syndrome.
  • To compare aortic disease patterns in Turner syndrome with Marfan-like syndromes and isolated aortic valve disease.

Main Methods:

  • Literature review focusing on emerging knowledge of aortic disease in Turner syndrome.
  • Comparison of aortic disease characteristics with Marfan-like syndromes and isolated aortic valve disease.

Main Results:

  • Aortic dissection incidence is substantially elevated in Turner syndrome patients across all ages, peaking in young adulthood and pregnancy.
  • While pediatric cases often present with known congenital cardiovascular defects, adult cases frequently reveal aortic valve and arch abnormalities via cardiac MRI screening.
  • Thoracic aortic dilation, primarily in the ascending aorta, affects 20-30% of individuals, similar to bicuspid aortic valve disease, and is linked to fetal lymphedema indicators like neck webbing and shield chest.

Conclusions:

  • Turner syndrome increases the risk of acute aortic dissection by over 100-fold in young and middle-aged women.
  • Management strategies require individualized monitoring and treatment protocols due to limited outcome data.