FBN1 and Marfan syndrome: The key ECM components implicated in MFS pathogenesis include elastin, collagen I/III, and fibrillin-1, and enzymes such as matrix metalloproteinases (MMP2/9) and ADAMTS-7 are associated with ECM degradation.12, 13, 14, 15 Despite this knowledge, biomarker development remains challenging: current diagnostic methods rely on Fbn1 mutation screening, whereas the specificity and utility of potential markers such as desmosine (elastic protein fragments) and hydroxyproline (collagen breakdown product) in monitoring disease progression need to be validated.16