Genetic testing is indicated for individuals with clinical findings and/or a positive family history. In familial Marfan syndrome, initial testing of a known affected relative is preferred. If a familial FBN1 variant is known, first-degree relatives can undergo targeted testing for the familial variant rather than full gene sequencing. Marfan characteristics can vary within a family; genetic testing is a powerful tool for early identification of at-risk individuals to allow targeted use of surveillance and medical interventions.
* Clinical findings of Marfan syndrome include aortic root disease, heart valve disease, skeletal changes, characteristic facial changes, ocular abnormalities such as ectopia lentis, dural ectasia, emphysematous lung changes, skin striae, and others. Refer to UpToDate for a more extensive discussion of clinical findings.
