Respiratory manifestations of Marfan syndrome: a narrative review.
Marfan syndrome (MFS)
emphysema
kyphoscoliosis
lung disease
pectus excavatum
sleep apnea
Journal
Journal of thoracic disease
ISSN: 2072-1439
Titre abrégé: J Thorac Dis
Pays: China
ID NLM: 101533916
Informations de publication
Date de publication:
Oct 2021
Oct 2021
Historique:
received:
05
07
2021
accepted:
03
09
2021
entrez:
19
11
2021
pubmed:
20
11
2021
medline:
20
11
2021
Statut:
ppublish
Résumé
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. MFS is an autosomal dominant, connective tissue disorder caused by mutations in the 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. Though the classic manifestations of MFS are cardiovascular, skeletal, and ocular,
Sections du résumé
OBJECTIVE
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
BACKGROUND
MFS is an autosomal dominant, connective tissue disorder caused by mutations in the
METHODS
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
CONCLUSIONS
Though the classic manifestations of MFS are cardiovascular, skeletal, and ocular,
Identifiants
pubmed: 34795948
doi: 10.21037/jtd-21-1064
pii: jtd-13-10-6012
pmc: PMC8575822
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
6012-6025Informations de copyright
2021 Journal of Thoracic Disease. All rights reserved.
Déclaration de conflit d'intérêts
Conflicts of Interest: All authors have completed the ICMJE uniform disclosure form (available at https://dx.doi.org/10.21037/jtd-21-1064). EDC serves as an unpaid editorial board member of Journal of Thoracic Disease from Dec 2018 to Jan 2021; Feb 2021 to Jan 2023. The other authors have no conflicts of interest to declare.
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