马凡综合征

Marfan syndrome is a genetic disorder that changes the proteins that help make healthy connective tissue. This leads to problems with the development of connective tissue, which supports the bones, muscles, organs, and tissues in your body. Mutations (changes) to a specific gene cause Marfan syndrome, and most people inherit the disorder from their parents. Symptoms of Marfan syndrome can be mild to severe and vary because the condition can affect different areas of the body, including the: Skeleton, which includes bone and connective tissues such as ligaments, tendons, and cartilage. Eyes. Heart and blood vessels, including arteries and valves inside the heart. Skin. Lungs. Treatment varies depending on the area of the body affected and may include medications, other treatments, and surgery to manage the condition and its complications. Research and advances in treatments and surgeries allow people with Marfan syndrome to live long, productive lives. What happens in Marfan syndrome? Everyone has fibrillin-1 protein, which helps make elastic fibers in connective tissue. Fibrillin-1 also affects another protein in your body, transforming growth factor-beta (TGF-beta), which helps control how cells function throughout the body. People with Marfan syndrome inherit a gene mutation that changes the amount of fibrillin-1 and the function of cells, which causes: Changes in the strength and performance of tissues throughout the body, including blood vessels, the heart, ligaments, tendons, and skin. Overgrowth of bones, making them longer than usual.