Marfan syndrome. What you need to know

Marfan syndrome is a heritable disorder of the connective tissue. The major abnormalities occur in the ocular, skeletal, and cardiovascular systems, with variable expression in different patients. Most common are dislocated lens, which may or may not affect visual acuity, arachnodactyly, and mitral valve prolapse and aortic root dilatation. Cardiovascular complications cause about 90% of the excess early mortality seen with the syndrome. With proper management, including annual examination, some of the problems associated with these abnormalities may be avoided. The biochemical explanation for the disorder is not clear. Some investigators maintain that a defect in collagen is responsible, while others point to elastin as the culprit. Further studies are needed to disclose the exact defect; both proteins may be found to play a role in this highly variable disorder.