Marfan's syndrome

Daniel P. Judge, Harry C Dietz

Research output: Contribution to journalArticle

Abstract

Marfan's syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor β (TGFβ), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGFβ antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype.

Original languageEnglish (US)
Pages (from-to)1965-1976
Number of pages12
JournalThe Lancet
Volume366
Issue number9501
DOIs
StatePublished - Dec 3 2005

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Marfan Syndrome
Transforming Growth Factors
Crystalline Lens
Premature Mortality
Aortic Aneurysm
Extracellular Matrix Proteins
Connective Tissue
Cytokines
Morbidity
Phenotype
Bone and Bones
Mutation
Fibrillin-1
Therapeutics

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Marfan's syndrome. / Judge, Daniel P.; Dietz, Harry C.

In: The Lancet, Vol. 366, No. 9501, 03.12.2005, p. 1965-1976.

Research output: Contribution to journalArticle

Judge, DP & Dietz, HC 2005, 'Marfan's syndrome', The Lancet, vol. 366, no. 9501, pp. 1965-1976. https://doi.org/10.1016/S0140-6736(05)67789-6
Judge, Daniel P. ; Dietz, Harry C. / Marfan's syndrome. In: The Lancet. 2005 ; Vol. 366, No. 9501. pp. 1965-1976.
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