Marfan syndrome and exercise: A literature review

Abstract

Marfan syndrome (MFS) is an autosomal dominant condition caused by a mutation in the fibrillin‐1–producing gene within the connective tissue, which can affect multiple organ systems negatively, including those that play a vital role (eg, heart and vasculature) in physical activity. The most fatal manifestations of MFS are aortic dilation, dissection, and rupture but to what extent regular physical activity will influence this is sparsely described. The current guidelines for MFS and physical training are based on limited research, and this review aims to summarize human and animal studies on exercise and its influence upon MFS presentation. Most studies found positive effects of regular mild to moderate aerobic exercise upon aorta expansion, as well as upon dilation and hypertrophy of the left ventricle together with a positive training response upon aerobic capacity. However, from the present studies, it is not possible to conclude regarding optimal intensity, frequency, duration, and type of exercise. Overall, the guidelines for exercise in MFS patients have so far due to limited research been relative conservative, despite the fact that at least moderate exercise in combination with tight cardiac monitoring does not demonstrate any detrimental effect upon MFS presentation.

Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients’ experiences and perceptions

“…Finding the right balance between safe and unhealthy exercise for these patient groups can be a major problem [ 12 ]. Patients may experience anxiety related to physical activity, which in turn may lead to a sedentary lifestyle and more fatigue [ 9 , 11 , 12 , 53 , 89 , 90 ], with these effects probably being negatively mutually reinforcing [ 91 ]. There are promising results that exercise-based cardiac rehabilitation in MFS and LDS can help these patients to decrease fatigue and chronic pain, with increased physical endurance and quality of life [ 71 ].…”

“…Life-threatening complications can require emergency intervention, with increased risk of morbidity and mortality [ 2 , 8 ]. Because of the risk of aortic dissection, many patients are advised to refrain from contact sport, to limit their physical exertion and to control their blood pressure strictly [ 9 , 10 ]. Unfortunately, they often follow by a sedentary lifestyle [ 10 – 13 ].…”

Fysisk aktivitet og helsekompetanse for personer med familiære torakale aortaaneurismer og -disseksjoner

“…Jensen og medarbeidere (7) er opptatt av viktigheten av å styrke helsekompetansen til personer med FTAAD-diagnoser, og mener at de bør få realistisk og nøktern informasjon om både fordeler og helserisiko med fysisk aktivitet. Forskning har vist at det å styrke pasientens helsekompetanse gir mer trygghet, bedre kontroll og økt livskvalitet (14).…”