Respiratory manifestations of Marfan syndrome: A narrative review

Mon Hnin Tun, Bryan Borg, Maurice Godfrey, Nancy Hadley-Miller, Edward D. Chan

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


Objective: The prevalence of Marfan syndrome (MFS) is estimated to be 1 in 10,000 to 15,000 individuals, but the phenotype of MFS may not be apparent and hence its diagnosis may not be considered by clinicians. Furthermore, the effects of MFS on the lungs and breathing are underrecognized despite the high morbidity that can occur. The objective of this Narrative Review is to delineate the molecular consequences of a defective fibrillin-1 protein and the skeletal and lung abnormalities in MFS that may contribute to respiratory compromise. It is important for clinicians to be cognizant of these MFS-associated respiratory conditions, and a contemporaneous review is needed. Background: MFS is an autosomal dominant, connective tissue disorder caused by mutations in the FIBRILLIN-1 (FBN1) gene, resulting in abnormal elastic fibers as well as increased tissue availability of transforming growth factor-beta (TGFβ), both of which lead to the protean clinical abnormalities. While these clinical characteristics are most often recognized in the cardiovascular, skeletal, and ocular systems, MFS may also cause significant impairment on the lungs and breathing. Methods: We searched PubMed for the key words of “Marfan syndrome,” “pectus excavatum,” and “scoliosis” with that of “lung disease,” “breathing”, or “respiratory disease.” The bibliographies of identified articles were further searched for relevant articles not previously identified. Each relevant article was reviewed by one or more of the authors and a narrative review was composed. Conclusions: Though the classic manifestations of MFS are cardiovascular, skeletal, and ocular, FBN1 gene mutation can induce a variety of effects on the respiratory system, inducing substantial morbidity and potentially increased mortality. These respiratory effects may include chest wall and spinal deformities, emphysema, pneumothorax, sleep apnea, and potentially increased incidence of asthma, bronchiectasis, and interstitial lung disease. Further research into approaches to prevent respiratory complications is needed, but improved recognition of the respiratory complications of MFS is necessary before this research is likely to occur.

Original languageEnglish (US)
Pages (from-to)6012-6025
Number of pages14
JournalJournal of Thoracic Disease
Issue number10
StatePublished - Oct 2021
Externally publishedYes


  • Emphysema
  • Kyphoscoliosis
  • Lung disease
  • Marfan syndrome (MFS)
  • Pectus excavatum
  • Sleep apnea

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


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