The Musculoskeletal Manifestations of Marfan Syndrome: Diagnosis, Impact, and Management

AbstractPurpose of ReviewMarfan syndrome (MFS) is an autosomal dominant heritable disorder of fibrillin-1 (FBN1) with predominantly ocular, cardiovascular, and musculoskeletal manifestations that has a population prevalence of approximately 1 in 5 –10,000 (Chiu et al. Mayo Clin Proc. 89(1):34–42,146, Dietz3, Loeys et al. J Med Genet. 47(7):476 –85,4).Recent FindingsThe vascular complications of MFS still pose the greatest threat, but effective management options, such as regular cardiac monitoring and elective surgical intervention, have reduced the risk of life-threatening cardiovascular events, such as aortic dissection. Although cardiovascular morbidity and mortality remains high, these improvements in cardiovascular management have extended the life expectancy of those with MFS by perhaps 30 –50 years from an estimated mean of 32 years in 1972 (Dietz3, Gott et al. Eur J Cardio-thoracic Surg. 10(3):149 –58,147, Murdoch et al. N Engl J Med. 286(15):804 –8,148). The musculoskeletal manifestations of MFS, which to date have received less attention, can also have a significant impact on the quality of life and are likely to become more important as the age of the Marfan syndrome population increases (Hasan et al. Int J Clin Pract. 61(8):1308 –1320,127). In addition, musculoskeletal manifestations are often critically important in the diagnosis of MFS.SummaryHere, we review the main clinically relevant and diagnostically useful musculoskeletal features of MFS, w...
Source: Current Rheumatology Reports - Category: Rheumatology Source Type: research