Marfan syndrome: Exploring new options in management

J. Galatioto, E. Chiu, J. R. Cook

Research output: Contribution to journalArticlepeer-review

Abstract

Marfan syndrome is a genetic disorder caused by mutations in fibrillin-1, a ubiquitously expressed extracellular matrix protein. As a result of the various functions of fibrillin-1 microfibrils in different tissues, Marfan syndrome patients have a number of different clinical manifestations affecting a number of organ systems, including thoracic aortic aneurysms (TAAs), lens dislocation (ectopia lentis) and increased growth of long bones. The diagnosis remains based on the presence or absence of these clinical manifestations, summarized in the revised Ghent nosology. TAA is the leading cause of morbidity and mortality for Marfan syndrome patients, and therefore has been of primary focus for clinicians and research. Serial imaging of the ascending aorta by echocardiography is used to monitor the rate of dilatation to stratify patients in whom medical management is effective versus those requiring surgical repair of the ascending aorta. Preclinical studies using mouse models of Marfan syndrome are refining our understanding of the pathobiology underlying cardiovascular disease in Marfan syndrome and have led to recent advances, including the use of inhibitors of the renin-angiotensin system to improve survival and reduce aortic dilatation. Ongoing clinical trials with Marfan syndrome patients are evaluating whether these preclinical advances are applicable to human patients.

Original languageEnglish (US)
Pages (from-to)479-485
Number of pages7
JournalDrugs of the Future
Volume39
Issue number7
DOIs
StatePublished - Jul 2014
Externally publishedYes

Keywords

  • Cardiovascular disease
  • Fibrillin-1
  • Genetic disorder
  • Marfan syndrome
  • Renin-angiotensin system

ASJC Scopus subject areas

  • Pharmacology
  • Pharmacology (medical)

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