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[The research progress in Marfan syndrome]

Shao-hua Zhu1, Liang Liu

  • 1Department of Forensic Medicine, Tongji Medical college, Huazhong University of Science and Technology, Wuhan 430030, China. Shaohua_zhu@hotmail.com

Fa Yi Xue Za Zhi
|May 18, 2005
PubMed

Insights

Marfan syndrome (MFS) is an inherited connective tissue disorder affecting multiple body systems. Caused by FBN1 gene mutations, it can lead to severe cardiovascular issues and sudden death.

Area of Science:

  • Genetics and Molecular Biology
  • Human Physiology
  • Pathology

Context:

  • Marfan syndrome (MFS) is a prevalent, autosomal dominant inherited connective tissue disorder.
  • Affects approximately 2-3 in 10,000 live births.
  • Characterized by multi-systemic manifestations.

Purpose:

  • To summarize the genetic basis and clinical features of Marfan syndrome.
  • To highlight the role of FBN1 gene mutations.
  • To underscore the potential severity and impact of MFS.

Summary:

  • Marfan syndrome (MFS) results from mutations in the FBN1 gene, which encodes fibrillin-1.
  • It causes defects in cardiovascular, skeletal, and ocular systems.
  • Involvement extends to skin, lungs, and muscle, with a high risk of sudden death due to cardiovascular complications.

Impact:

  • Provides a concise overview of Marfan syndrome for researchers and clinicians.
  • Emphasizes the genetic etiology and broad clinical spectrum.
  • Underscores the critical need for early diagnosis and management of cardiovascular risks.

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