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Marfan’s syndrome with atrial septal defect rare clinical association

International Journal of Cardiology Research · 2025 · Vol. 7(2) · pp. 34–41
Kalyan MundeSandip GhotiVighnesh RaneAnant MundeSamkit MuthaJaykrishna NiariHariom KolapkarAnkur GuptaGaurav KothariVaishali GabaPrasad JainDivya KantakSuvarna Thorat

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.

Cardiovascular and Diving-Related ComplicationsCongenital Heart Disease StudiesVascular anomalies and interventionsMarfan syndromeMitral valveMitral valve prolapseAortic valveArachnodactylyHeart septal defectConnective tissueAortic root
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