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Pathogenesis of aortic wall complications in Marfan syndrome

Nimrat Grewal1, Adriana C Gittenberger-de Groot2

  • 1Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, the Netherlands; Department of Anatomy and Embryology, Leiden University Medical Center, Leiden, the Netherlands.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|February 13, 2018
PubMed
Abstract

Insights

Marfan syndrome (MFS) and bicuspid aortic valve (BAV) patients share aortic wall pathology mechanisms with tricuspid aortic valve (TAV) patients. MFS aortas show immature cells and low fibrillin-1, increasing vulnerability.

Area of Science:

  • Cardiovascular pathology
  • Genetics and molecular biology
  • Histopathology

Background:

  • Marfan syndrome (MFS) and bicuspid aortic valve (BAV) increase risks of aortic dilation and dissection compared to tricuspid aortic valve (TAV).
  • Understanding shared and distinct pathways is crucial for clinical relevance.
  • Histopathological comparison of aortic wall substrates is needed.

Purpose of the Study:

  • To compare the histopathological substrates of aortic pathology in Marfan syndrome (MFS), bicuspid aortic valve (BAV), and tricuspid aortic valve (TAV) patients.
  • To elucidate common and distinct pathways contributing to aortic dilation and dissection.

Main Methods:

  • Ascending aortic wall specimens from BAV (n=36), TAV (n=23), and non-dilated MFS (n=8) groups were analyzed.
  • Routine histology assessed aortic wall features.
  • Immunohistological markers investigated vascular smooth muscle cell (VSMC) maturation and fibrillin-1 expression.

Main Results:

  • MFS aortas exhibited medial degeneration, elastic fiber fragmentation, and VSMC loss, similar to dilated TAVs.
  • MFS and BAV patients showed significantly lower fibrillin-1 expression compared to TAVs (p<0.05).
  • Lower levels of differentiated VSMC markers and thinner elastic fibers were observed in MFS and BAV groups (p<0.05).

Conclusions:

  • Aortopathy pathogenesis in MFS overlaps with BAV and TAV mechanisms, suggesting a 'double-hit' hypothesis.
  • The ascending aortic wall in MFS is characterized by immature VSMCs and low fibrillin-1.
  • Fibrillin-1 mutations likely contribute to aortic vulnerability through additional degenerative features.
Keywords:
Marfan syndromeaneurysmaortabicuspid aortic valvehistopathologymolecular biology

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