Marfan syndrome is a congenital connective tissue disease in which a genetic defect leads to a structural change in the elastic connective tissue.
All elastin-containing organs can therefore be affected to a greater or lesser extent: the most dangerous manifestation is an enlargement of the aortic root, the part of the aorta directly adjacent to the aortic valve, which has the highest elastin content. This dilation can lead to a tear or even rupture of the aortic wall, which is a life-threatening complication of Marfan syndrome.
Further cardiac involvement can be aortic valve insufficiency or a leak in the mitral valve. Rhythm disturbances are the exception in paediatric Marfan syndrome.
Other organs affected are the eye, where the lens of the eye is suspended on elastin-containing fibres, which can lead to lens luxation (displacement), resulting in very severe visual impairment.
The skin is also affected, which is more elastic but can also have more stretch marks, as well as the connective tissue, which can lead to increased inguinal, umbilical or incisional hernias, as well as the lungs, where spontaneous ruptures (pneumothorax) can occur.
Another conspicuous feature is a high stature with changes in the ribcage, either with a funnel-shaped deformation of the sternum (funnel chest) or a bulging of the sternum (keel chest) as well as deformations of the spine in various planes (kyphosis and/or scoliosis). Striking signs of Marfan patients can also include long, slender fingers and toes.
These characteristics are due, among other things, to the increased release of growth hormones (TGFß), which only recently became known as a co-trigger of Marfan syndrome and now represents the beginnings of new therapy options.
