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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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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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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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Related Experiment Video

Updated: Feb 27, 2026

Quantitative Analysis and Characterization of Atherosclerotic Lesions in the Murine Aortic Sinus
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Histopathologic differences partially distinguish syndromic aortic diseases.

Kevin M Waters1, Lisa M Rooper1, Andrew Guajardo1

  • 1Department of Pathology, Johns Hopkins University, Baltimore, MD, USA.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|June 25, 2017
PubMed
Summary

Histopathology patterns can distinguish causes of ascending aortic aneurysms. Consistent use of descriptors helps identify specific conditions like Marfan syndrome from others.

Keywords:
Aortic aneurysmBicuspid aortic valveHistopathologyLoeys–Dietz syndromeMEMAMarfan syndromeNomenclature

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Area of Science:

  • Cardiovascular Pathology
  • Histopathology
  • Aortic Disease

Background:

  • Ascending aortic aneurysms and dissections arise from syndromic diseases (e.g., Marfan, Loeys-Dietz) and risk factors (smoking, hypertension).
  • Inconsistent terminology for histopathology in resected aortic specimens has hindered pattern recognition.

Purpose of the Study:

  • To evaluate histopathologic patterns in ascending aortic aneurysms using a standardized nomenclature.
  • To determine if histopathology can differentiate between various etiologies of aortic disease.

Main Methods:

  • Blind evaluation of 148 surgically resected ascending aortic specimens.
  • Application of the recent Society for Cardiovascular Pathology/Association for European Cardiovascular Pathology consensus statement for noninflammatory aortic disease.

Main Results:

  • Histopathologic patterns successfully clustered bicuspid aortic valve and nonsyndromic subjects separately from Marfan and Loeys-Dietz syndrome subjects.
  • Marfan syndrome cases showed significantly more medial degeneration and mucoid extracellular matrix accumulation.
  • Smooth muscle cell nuclei loss was associated with aging, not specific syndromes.

Conclusions:

  • Consistent histopathologic descriptors can differentiate the etiologies of ascending aortic aneurysms.
  • Standardized evaluation aids in distinguishing syndromic from nonsyndromic aortic diseases.