Marfan Syndrome is a genetic disorder that affects the connective tissues in the body. It is caused by a mutation in the FBN1 gene, which is responsible for producing a protein called fibrillin-1. Connective tissues provide support and structure to various organs and systems, including the heart, blood vessels, bones, and eyes.
Individuals with Marfan Syndrome often have certain physical characteristics: they tend to be tall and thin, with long limbs, fingers, and toes. They may also have a curved spine, a protruding or sunken chest, and a high-arched palate.
One of the most serious complications of Marfan Syndrome is cardiovascular problems: the weakened connective tissues can lead to abnormalities in the heart valves, aorta, and blood vessels. This increases the risk of aortic aneurysms, dissections, and other heart-related conditions.
Marfan Syndrome can also affect the eyes: individuals may experience nearsightedness, lens dislocation, and an increased risk of retinal detachment.
While there is no cure for Marfan Syndrome, early diagnosis and management are crucial to prevent or minimize complications. Treatment may involve regular monitoring of the heart and blood vessels, medication to manage blood pressure, surgical interventions, and lifestyle modifications.