Fact-sheet: Marfan syndrome
Updated on 04/14/2017 at 1:50 PM
View all RADEOS cases associated with this fact-sheet
Definition
Autosomal dominant genetic connective tissue disease resulting in cardiovascular, musculoskeletal, ophthalmologic, and pulmonary manifestations.
Clinical features
Cardiovascular involvement:
- progressive dilation of the aorta with a high risk of aortic dissection and progression to aortic valve regurgitation
- mitral regurgitation which can be complicated by arrhythmias, endocarditis, and heart failure.
Skeletal signs:
dolichostenomelia (excessive length of the extremities), tall stature, arachnodactyly, joint hypermobility, scoliosis, acetabular protrusion, chest wall deformity (pectus carinatum or pectus excavatum), anteroposterior dolichocephaly, micrognathia, or malar hypoplasia.
Ophthalmologic involvement: axial myopia which can predispose to retinal detachment and lens displacement (ectopia or dislocation, a characteristic sign).
Cutaneous signs (striae),
risk of pneumothorax,
dural ectasia.
