Marfan Syndrome

Marfan syndrome is a genetic disorder that affects connective tissue, which provides structural support for the body's organs and other tissues. It is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1, an essential component of connective tissue. This condition can lead to features such as tall stature, long limbs and fingers, and flexible joints. The variability of expression means that the severity and range of symptoms can differ widely among affected individuals.

Cardiovascular complications are the most serious aspect of Marfan syndrome, with the enlargement of the aorta (aortic dilation) being particularly dangerous, as it can lead to aortic dissection or rupture, which are life-threatening. Other common manifestations include eye problems, such as dislocation of the lens and increased risk of retinal detachment, and skeletal abnormalities, like scoliosis and chest deformities. There is no cure, but regular monitoring and appropriate management, including surgery, can significantly reduce the risks associated with the disorder and improve quality of life.