Related Experiment Video

Updated: Apr 29, 2026

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The Marfan syndrome

R E Pyeritz1

  • 1Department of Human Genetics, MCP Hahnemann School of Medicine, Philadelphia, Pennsylvania 19102, USA. pyeritz@pgh.auhs.edu

Annual Review of Medicine
|April 25, 2000
PubMed

Insights

Marfan syndrome (MFS) is a heritable connective tissue disorder caused by FBN1 gene mutations. Improved cardiovascular management has significantly increased life expectancy for MFS patients.

Area of Science:

  • Genetics
  • Cardiology
  • Rheumatology

Background:

  • Marfan syndrome (MFS) is a well-established heritable connective tissue disorder.
  • It represents one end of a spectrum of related conditions, with varying clinical presentations.
  • Diagnosis relies on clinical features, with FBN1 gene mutations identified as the cause.

Purpose of the Study:

  • To provide an overview of Marfan syndrome.
  • To discuss the genetic basis and phenotypic spectrum of MFS.
  • To highlight advancements in managing cardiovascular complications.

Main Methods:

  • Clinical diagnosis based on characteristic features.
  • Genetic analysis to identify FBN1 gene mutations.
  • Review of medical and surgical management strategies for cardiovascular issues.

Main Results:

  • FBN1 gene mutations are the primary cause of MFS.
  • MFS affects multiple organ systems including skeletal, ocular, cardiovascular, skin, integument, lungs, and muscle.
  • Aggressive management of cardiovascular problems has improved life expectancy.

Conclusions:

  • Marfan syndrome is a complex genetic disorder with a wide phenotypic range.
  • FBN1 mutations are central to MFS pathogenesis.
  • Advances in cardiovascular care have substantially improved outcomes for individuals with Marfan syndrome.

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