Key result
Review outlines the diagnosis, pathogenesis, and management of Marfan syndrome caused by FBN1 mutations.
This review provides a comprehensive overview of Marfan syndrome, highlighting the role of FBN1 mutations, diagnostic criteria, and management strategies including beta-blockers and angiotensin II-receptor blockers.
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FBN1 testing may refine MFS diagnosis under revised Ghent criteria; leaves open need for prospective validation before broader adoption.
Kumar et al. (2014) conducted a review in Marfan syndrome. This review provides an overview of Marfan syndrome, an autosomal dominant connective tissue disorder caused by FBN1 mutations, including its diagnosis, pathogenesis, and management.
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