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Related Concept Videos

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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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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Pedigree Analysis01:35

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Sex-linked Disorders01:43

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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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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The thoracic section of the aorta begins at the T5 vertebra and extends to the T12 level at the diaphragm, initially progressing through the mediastinum to the left of the spinal column. Throughout its course in the thoracic segment, the thoracic aorta emits various offshoots known collectively as visceral and parietal branches. The branches that predominantly supply blood to visceral organs are termed visceral branches and include bronchial, pericardial, esophageal, and mediastinal arteries,...
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Related Experiment Video

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Murine Model of Thoracic Aortic Dissection Induced by Oral β-Aminopropionitrile and Subcutaneous Angiotensin II Infusion
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Hereditary Influence in Thoracic Aortic Aneurysm and Dissection.

Eric M Isselbacher1, Christian Lacks Lino Cardenas1, Mark E Lindsay2

  • 1From Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston.

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Genetic factors contribute to thoracic aortic aneurysms, a dangerous condition. Discoveries in transforming growth factor beta (TGF-β) signaling and smooth muscle contraction genes offer insights into aneurysm origins and potential therapies.

Keywords:
Marfan syndromeaortaaortic disease

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Area of Science:

  • Cardiovascular Genetics
  • Aortic Disease Pathogenesis

Background:

  • Thoracic aortic aneurysm (TAA) is a life-threatening condition with limited understanding of its origins.
  • Genetic predisposition is a known risk factor for TAA, increasing susceptibility to dissection or rupture.

Purpose of the Study:

  • To review current knowledge on genes implicated in thoracic aortic aneurysm.
  • To explore divergent hypotheses regarding the mechanisms underlying aneurysm development.

Main Methods:

  • Literature review of published data on genetic alterations in TAA.
  • Analysis of gene discovery in families with a history of thoracic aortic aneurysm.

Main Results:

  • Two primary categories of gene alterations identified: TGF-β signaling cascade mutations (TGF-β vasculopathies) and smooth muscle contractile apparatus mutations (smooth muscle contraction vasculopathies).
  • Specific genes identified include FBN1, TGFBR1-3, SMAD2, SMAD3, SKI, ACTA2, MYH11, MYLK, and PRKG1.

Conclusions:

  • Genetic discoveries have significantly advanced the understanding of TAA pathogenesis.
  • Mechanistic insights derived from genetic findings are guiding the development of novel therapeutic strategies for TAA.