Diseases

Marfan Syndrome

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.

MeSH Record

Classification

Broader headings

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MeSH Record

See Also

MeSH Record

Synonyms

7 entry terms
  • Marfan's Syndrome
  • Marfans Syndrome
  • Marfan Like Connective Tissue Disorder
  • Marfan Syndrome Type 1
  • Marfan Syndrome Type 2
  • Marfan Syndrome, Type I
  • Marfan Syndrome, Type II

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

1985; use ARACHNODACTYLY 1963-1984

MeSH Hierarchy

Tree Numbers

  1. C05w.116w.099.674w
  2. C14w.240.400w.725w
  3. C14w.280w.400w.725w
  4. C16w.131w.077w.550w
  5. C16w.131w.240.400w.720w
  6. C16w.320w.540w
  7. C17.300w.500w

MeSH Record

NLM Classification

QZ 192

AMA Style

References

  1. National Library of Medicine. Marfan Syndrome. Medical Subject Headings (MeSH). 2026. Unique ID D008382. http://id.nlm.nih.gov/mesh/2026/D008382
  2. Marfan Syndrome. In: Wikipedia. https://en.wikipedia.org/wiki/Marfan_syndrome
  3. Marfan Syndrome. In: Wikidata. https://www.wikidata.org/wiki/Q208562