Therapy insight: Aortic aneurysm and dissection in Marfan's syndrome

Francesco Ramirez, Harry C Dietz

Research output: Contribution to journalArticle

Abstract

Aortic dissection and aneurysm are common clinical problems with life-threatening consequences; they are also the hallmark of several genetic diseases, including Marfan's syndrome (MFS). In spite of clinical and surgical advances that have increased life expectancy for affected patients, cardiovascular manifestations remain significant contributors to morbidity and mortality in MFS. Dissecting aortic aneurysm in this disorder is accounted for by mutations in fibrillin-1, the major component of the microfibrils associated with elastin in the elastic fibers of the aortic media. Genetic studies of human patients and murine models have yielded invaluable insights into the pathophysiology of aneurysm formation and progression in MFS. They have also revealed a previously unappreciated role of microfibrils in regulating transforming growth factor and bone morphogenetic protein signaling. As a result, exciting new hypotheses have emerged regarding the pathogenesis of MFS, as well as opportunities to explore translational applications of this information that may be relevant to various manifestations of the disease.

Original languageEnglish (US)
Pages (from-to)31-36
Number of pages6
JournalNature Clinical Practice Cardiovascular Medicine
Volume1
Issue number1
DOIs
StatePublished - Nov 2004

Fingerprint

Marfan Syndrome
Aortic Aneurysm
Dissection
Microfibrils
Dissecting Aneurysm
Bone Morphogenetic Proteins
Inborn Genetic Diseases
Elastic Tissue
Elastin
Medical Genetics
Transforming Growth Factors
Therapeutics
Life Expectancy
Aneurysm
Morbidity
Mutation
Mortality

Keywords

  • Aortic aneurysm
  • Fibrillin
  • Marfan's syndrome
  • Microfibrils
  • TRGF-β/BMP signaling

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Therapy insight : Aortic aneurysm and dissection in Marfan's syndrome. / Ramirez, Francesco; Dietz, Harry C.

In: Nature Clinical Practice Cardiovascular Medicine, Vol. 1, No. 1, 11.2004, p. 31-36.

Research output: Contribution to journalArticle

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