The main features of Marfan syndrome

The main features of Marfan syndrome involve the skeletal,
ocular and cardiovascular systems. The various skeletal features
of Marfan syndrome are shown in the box. Up to 80% of
affected individuals have dislocated lenses (usually bilateral)
and there is also a high incidence of myopia. Cardiovascular
manifestations include mitral valve disease and progressive
dilatation of the aortic root and ascending aorta. Aorta
dissection is the commonest cause of premature death in
Marfan syndrome. Regular monitoring of aortic root
dimension by echocardiography, medical therapy
(betablockers) and elective aortic replacement surgery have
contributed to the fall in early mortality from the condition
over the past 30 years.