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[Respiratory manifestations of Marfan's syndrome]

M Neuville1, G Jondeau2, B Crestani1

  • 1Service de pneumologie, département hospitalo-universitaire FIRE, centre de compétence pour les maladies pulmonaires rares, hôpital Bichat-Claude-Bernard, 75018 Paris, France.

Revue Des Maladies Respiratoires
|March 14, 2015
PubMed

Insights

Marfan syndrome, a genetic disorder from FBN1 gene mutations, commonly causes cardiovascular, musculoskeletal, and ophthalmic issues. Pulmonary problems like pneumothorax and sleep apnea also occur, requiring physician awareness for better patient outcomes.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiology
  • Pulmonology

Context:

  • Marfan syndrome is a rare genetic connective tissue disorder caused by FBN1 gene mutations.
  • While cardiovascular, musculoskeletal, and ophthalmic issues are common, pulmonary manifestations are also significant diagnostic criteria.
  • Pulmonary complications include recurrent pneumothorax (5-11% of patients), rib cage abnormalities, and obstructive sleep apnea.

Purpose:

  • To highlight the pulmonary manifestations of Marfan syndrome.
  • To emphasize the importance of considering Marfan syndrome in patients with recurrent pneumothorax or rib cage abnormalities.
  • To underscore the link between Marfan syndrome, sleep apnea, and potential aortic dilatation.

Summary:

  • Marfan syndrome, due to fibrillin-1 protein deficiency, presents with diverse symptoms, including significant pulmonary issues.
  • Recurrent pneumothorax and pectus deformities are notable in Marfan patients, with potential links to craniofacial abnormalities and sleep apnea.
  • Early detection of cardiac involvement in Marfan syndrome is crucial for improving prognosis, with pulmonologists playing a key role.

Impact:

  • Increased awareness among pulmonologists regarding Marfan syndrome can lead to earlier diagnosis and intervention.
  • Recognizing the association between Marfan syndrome and sleep apnea may help manage cardiovascular risks, such as aortic dilatation.
  • Understanding the full spectrum of Marfan syndrome manifestations, including pulmonary and sleep-related issues, can improve patient management and outcomes.
Keywords:
FBN1Marfan's syndromeObstructive sleep apnoeaPectus excavatumPneumothoraxSyndrome de MarfanSyndrome d’apnées obstructives du sommeil

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