Exercise for Individuals with Marfan Syndrome

Purpose: Marfan syndrome is an autosomal dominant connective tissue disorder affecting between 1 in 3,000 to 10,000 individuals. Marfan syndrome has widespread effects on the musculoskeletal, ocular, integumentary, cardiovascular, and pulmonary systems because of a defect in the fibrillin proteins of connective tissues. Common problems include joint hypermobility, sclerodactyly, above average height and limb length, lens dislocation, aortic dilatation and dissection, mitral valve prolapse, spontaneous pneumothorax, stretch marks, inguinal hernias, and enlargement of the neural canal in the lumbar and sacral regions. It has been documented that because of connective tissue changes, individuals with Marfan syndrome are at high risk of aortic dilatation and dissection caused by increases in blood pressure and heart rate. Yet, many youth and adults with Marfan syndrome want to participate in physical activity. The hemodynamic changes caused by exercise, especially intense exercise, may increase the tension and stress on the wall of a weakened aneurysm and result in further weakening or rupture of the vessel wall. All of these potential problems may make it difficult for physical therapists to develop safe exercise programs for individuals with Marfan syndrome. Summary of Key Points: This paper provides an overview of the underlying disease mechanisms, medical management of Marfan syndrome, and scientific evidence for the benefits of exercise. In addition, guidelines are provided to assist in prescribing, monitoring, and progressing exercise programs for individuals with Marfan syndrome. A case study is included to demonstrate an exercise prescription for a young adult with Marfan syndrome. Statement of Conclusions: With modifications, exercise can be a beneficial adjunct in the overall medical management of individuals with Marfan syndrome.