Respiratory manifestations of Marfan syndrome: a narrative review.

ABSTRACT:

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

SUBMITTER: Tun MH 

PROVIDER: S-EPMC8575822 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature