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Marfan syndrome. Part 1: pathophysiology and diagnosis

Victoria Cañadas1, Isidre Vilacosta, Isidoro Bruna

  • 1Instituto Cardiovascular, Hospital Clínico San Carlos, C/Profesor Martín Lagos, sn, 28024 Madrid, Spain. victoria_canadasgodoy@yahoo.es

Nature Reviews. Cardiology
|March 31, 2010
PubMed

Insights

Marfan syndrome, a genetic connective-tissue disorder, stems from FBN1 gene mutations affecting fibrillin-1. Understanding its pathogenesis, particularly cardiovascular risks, improves patient prognosis and treatment strategies.

Area of Science:

  • Genetics
  • Molecular Biology
  • Pathology

Background:

  • Marfan syndrome is an autosomal dominant connective-tissue disorder.
  • It is primarily caused by mutations in the FBN1 gene, which encodes fibrillin-1.
  • Fibrillin-1 is crucial for extracellular matrix microfibrils, and its dysfunction leads to tissue weakness and altered signaling.

Purpose of the Study:

  • To review the pathogenesis of Marfan syndrome.
  • To highlight the importance of cardiovascular involvement in Marfan syndrome.
  • To discuss diagnostic criteria and the role of genetic testing.

Main Methods:

  • Review of scientific literature on Marfan syndrome.
  • Analysis of FBN1 gene mutations and their impact on fibrillin-1.
  • Examination of clinical manifestations and diagnostic criteria (Ghent criteria).
  • Consideration of insights from mouse models.

Main Results:

  • FBN1 mutations lead to reduced or abnormal fibrillin-1, causing tissue weakness and increased TGF-beta signaling.
  • Cardiovascular complications are a major concern impacting prognosis.
  • The Ghent criteria provide a framework for comprehensive diagnosis across multiple organ systems.

Conclusions:

  • Advances in understanding Marfan syndrome pathogenesis, driven by genetic insights and animal models, are expected to improve patient outcomes.
  • Accurate diagnosis relies on clinical assessment using the Ghent criteria, with genetic testing aiding specific cases.
  • Further research into fibrillin-1 function and TGF-beta signaling holds promise for novel therapeutic targets.

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