An autosomal dominant genetic disorder of connective tissue
System(s) affected: musculoskeletal, cardiovascular, ocular, skin/integument, endocrine/metabolic, pulmonary
Genetics: autos...
Genetic testing, looking for mutations in the FBN-1 gene, is available. Mutations can be identified in ~90% of affected individuals 1[A].
The mainstay of diagnosis is clinical evaluation and ...
Long-term treatment
Acute treatment: outpatient
No specific medical therapy is available. Medications may be used to treat manifestations of Marfan syndrome.
β-Blockers have...
Athletes with Marfan syndrome can participate in low to moderate static/low-dynamic sports as long as they do not have moderate or severe mitral regurgitation, le...
Clinicians should be on the lookout for the musculoskeletal manifestations of Marfan syndrome when performing preparticipation screening.
Physicians should carefully evaluate individual...
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