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Related Concept Videos

Aortic Regurgitation I: Introduction01:15

Aortic Regurgitation I: Introduction

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 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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Mitral Stenosis I: Introduction

Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
Elastin is Responsible for Tissue Elasticity01:12

Elastin is Responsible for Tissue Elasticity

Elastic fiber contains the protein elastin along with lesser amounts of other proteins and glycoproteins. The main property of elastin is that it will return to its original shape after being stretched or compressed. Elastic fibers are prominent in elastic tissues found in skin and the elastic ligaments of the vertebral column.
Ligaments and tendons are made of dense regular connective tissue, but in ligaments not all fibers are parallel. Dense regular elastic tissue contains elastin fibers and...
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...
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Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...

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Isolation and Excision of Murine Aorta; A Versatile Technique in the Study of Cardiovascular Disease
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Supravalvular aortic stenosis: elastin arteriopathy.

Giuseppe Merla1, Nicola Brunetti-Pierri, Pasquale Piccolo

  • 1Medical Genetics Unit, IRCCS Casa Sollievo Della Sofferenza Hospital, San Giovanni Rotondo, Italy. g.merla@operapadrepio.it

Circulation. Cardiovascular Genetics
|December 20, 2012
PubMed
Summary
This summary is machine-generated.

Supravalvular aortic stenosis is a genetic elastin arteriopathy. Identifying the specific genetic defect is crucial for diagnosis, prognosis, and genetic counseling in affected individuals.

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Area of Science:

  • Cardiovascular Medicine
  • Human Genetics
  • Molecular Biology

Background:

  • Supravalvular aortic stenosis (SVAS) is a systemic elastin (ELN) arteriopathy primarily affecting the supravalvular aorta.
  • It can manifest as a nonsyndromic condition or be associated with syndromes like Williams-Beuren syndrome.
  • Pathological findings include congenital narrowing of the aorta and other major arteries.

Purpose of the Study:

  • To emphasize the importance of comprehensive evaluation for assessing vascular involvement in ELN arteriopathy.
  • To highlight the necessity of identifying genetic defects for accurate diagnosis, prognosis, and genetic counseling.
  • To underscore the role of genetic factors in the pathogenesis of SVAS.

Main Methods:

  • Genetic analysis to identify ELN gene mutations or microdeletions.
  • Clinical evaluation to determine the extent of vascular abnormalities.
  • Review of existing literature on ELN arteriopathy and its genetic basis.

Main Results:

  • ELN arteriopathy results from ELN gene haploinsufficiency on chromosome 7q11.23.
  • Genetic causes include microdeletions or point mutations in the ELN gene.
  • Premature termination mutations leading to null alleles are common among ELN point mutations.

Conclusions:

  • Genetic heterogeneity underlies ELN arteriopathy, with ELN gene defects being causative.
  • Accurate genetic diagnosis is essential for managing supravalvular aortic stenosis.
  • Understanding the genetic basis aids in prognosis and informed genetic counseling.