Patient discussions

The recommendations concerning which sports are safe in these often young patients can be difficult. Children and adolescents with Marfan syndrome are at significant risk for physical injury and medical complications with physical activity and of particular concern are contact sports, activities with "burst" exertion (such as sprinting) and intense isometric exertion such as weight lifting.[3]​ In patients with significant aortic disease guidance should be provided to avoid intense isometric exercises, burst exertion, and collision sports.[19] Patients without aortic dilatation, significant valve regurgitation or ventricular dysfunction can be encouraged to participate in recreational physical activity but this is still limited by the intensity of the activity.[3] The American Heart Association provides recommendations for Marfan syndrome and physical activity which grades individual sports and their suitability.[92]

Patients are instructed to seek immediate ocular examination if they develop ophthalmologic symptoms such as the perception of floaters (myodesopsia), flashing lights (photopsia), glare, or visual-field defect.

Women who are planning a pregnancy should be offered preconception counseling; this would ideally be provided by a geneticist or cardiologist familiar with Marfan syndrome, a genetic counselor, and a perinatologist.[3] Based on a known causative fibrillin-1 mutation in either parent, prepregnancy counseling should include advice regarding options of antenatal diagnosis by chorionic villus biopsy at 11 weeks' gestation, or preimplantation genetic diagnosis to ensure an unaffected fetus.[38][93]

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