13th March 2024

Clinical manifestations

Marfan’s syndrome has a range of musculoskeletal features, including arachnodactyly, scoliosis or kyphosis, pectus carinatum or excavatum and dolichostenomelia (long extremities in comparison to the length of an individual’s trunk). The main ophthalmic complication in Marfan’s is lens dislocation, which is usually in an upward and outward (superotemporal) direction. Other clinical features include an increased risk of pneumothorax, high arched palate and joint hypermobility.

Cardiovascular manifestations

Loss of elastic tissue in the aortic wall results in aortic root dilatation in around 60 to 80% of those with Marfan’s. Aortic dilation is associated with complications, including aortic dissection (typically type A) and aortic regurgitation. 

An estimated 40-54% of those with Marfan’s syndrome will have mitral valve prolapse (MVP). This defect is more common in females and older individuals and results in mitral regurgitation. As a result of cardiac valve disease, heart failure may develop in those affected with Marfan’s syndrome. There is also a risk of infective endocarditis after surgical intervention to manage aortic dilation.