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Ultrasound Imaging of the Thoracic and Abdominal Aorta in Mice to Determine Aneurysm Dimensions
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Exploring thoracic aorta ECM alterations in Marfan syndrome: insights into aorta wall structure

Rodrigo Barbosa de Souza1,2, Luara Lucena Cassiano3, Philipp Barnowski4,5

  • 1Department of Descriptive and Topographic Anatomy, Faculty of Santa Marcelina, São Paulo, Street Santa Marcelina, 91, 08270-140, SP, Brazil. rodrigo.bsouza@santamarcelina.edu.br.

Scientific Reports
|July 22, 2025
PubMed

Insights

Marfan syndrome, caused by FBN1 mutations, weakens aortic walls. This study in Fbn1mgΔlpn mice reveals early matrix and endothelial changes contributing to aortic fragility and dilation.

Area of Science:

  • Cardiovascular Biology
  • Connective Tissue Diseases
  • Genetics and Molecular Biology

Background:

  • Marfan syndrome is a genetic disorder affecting connective tissue, primarily caused by mutations in the FBN1 gene.
  • These mutations lead to defects in fibrillin-1, a key component of elastic fibers, resulting in aortic wall fragility, aneurysm, and dissection.
  • Understanding early molecular and microstructural changes in the aorta is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate the early microstructural and molecular alterations in the thoracic aorta of Fbn1mgΔlpn mice, a model for Marfan syndrome.
  • To elucidate the contributions of the tunica intima and media to aortic wall weakening.
  • To correlate these changes with aortic function and integrity.

Main Methods:

  • Histological and ultrastructural analyses (including serial block-face scanning electron microscopy).
  • Molecular analyses of extracellular matrix components and cell adhesion molecules.
  • Second harmonic generation imaging for collagen assessment.
  • Echocardiography for functional evaluation of the aorta.

Main Results:

  • Observed elastic fiber fragmentation, reduced fibrillin-1 expression, and endothelial cell detachment in the intima.
  • Identified discontinuities in the internal elastic lamina and altered matrix composition (fibronectin, collagen types) in the media.
  • Detected aortic root and ascending aorta dilatation, impaired blood flow, and diastolic dysfunction, correlating with elastic fiber integrity.

Conclusions:

  • Early alterations in extracellular matrix organization and endothelial-matrix interactions in the aorta contribute to aortic wall weakening in Marfan syndrome.
  • Fibrillin-1 expression and matrix integrity are critical for maintaining aortic structure and function.
  • These findings highlight potential therapeutic targets for preventing aortic complications in Marfan syndrome.
Keywords:
AneurysmAortaCollagenExtracellular matrixFibrillin-1Marfan syndrome

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