Year: 2025
Type: article
Abstract: Marfan syndrome (MFS) is a systemic connective tissue disorder primarily caused by mutations in the FBN1 gene, leading to widespread involvement of the cardiovascular, musculoskeletal, and ocular systems. Cardiovascular manifestations, especially aortic root dilatation and dissection, are the major contributors to morbidity and mortality. While valvular involvement such as mitral valve prolapse is relatively common, congenital heart defects like atrial septal defects (ASDs) are extremely rare in MFS and are not part of the diagnostic Ghent criteria. Limited literature exists on this association, especially in early childhood, raising questions about whether this is a coincidental finding or an underrecognized cardiac manifestation.
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4414186014