Treatments

Marfan Syndrome: Marfan syndrome is a disorder of the connective tissue. Connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, the walls of blood vessels, and heart valves. Marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and aorta. Signs and Symptoms: Affected individuals often are tall and slender, have elongated fingers and toes, and have an arm span that exceeds their body height. Also unusually flexible joints, a long and narrow face, a highly arched roof of the mouth, crowded teeth, an abnormal curvature of the spine (scoliosis), and either a sunken chest or a protruding chest. About half of all people with Marfan syndrome have vision problems caused by a dislocated lens in one or both eyes, and most are nearsighted. Most people with Marfan syndrome have abnormalities of the heart and the aorta. Leaks in valves that control blood flow through the heart can cause shortness of breath, fatigue, and an irregular heartbeat felt as skipped or extra beats. If leakage occurs, it usually affects the mitral valve, which connects two chambers of the heart, which regulates blood flow from the heart into the aorta. The aorta can weaken and stretch, which may lead to a bulge in the blood vessel wall. This can lead to a sudden tearing of the layers in the aorta wall. Aortic aneurysm and dissection can be life threatening. Cause Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 binds to itself and other proteins and molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils hold molecules called growth factors and release them at the appropriate time to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can reduce the amount and/or quality of fibrillin-1 that is available to form microfibrils. As a result, growth factors are released inappropriately, causing the characteristic features of Marfan syndrome. Demographic Marfan syndrome affects males and females equally, and the mutation shows no ethnic or geographical bias. Estimates indicate that approximately 1 in 3,000 to 5,000 individuals have Marfan syndrome. Each parent with the condition has a 50% risk of passing the genetic defect on to any child due to its dominant nature. Most individuals with Marfan syndrome have another affected family member - approximately 15–30% of all cases are due to de novo genetic mutations—such spontaneous mutations occur in about 1 in 20,000 births. Treatment Children with Marfan's should have regular eye exams beginning at an early age because nearsightedness is a common condition. It can be corrected with prescription glasses or contact lenses. A child with Marfan's syndrome should be checked regularly for curvature of the spine (scoliosis). Children with scoliosis should be referred to an orthopedic surgeon who may prescribe a removable brace to stabilize the spine. Surgery is occasionally recommended to correct an indented chest if it presses severely on the heart or lungs. Those with Marfan's syndrome must have regular checkups by a cardiologist to monitor the effects of treatment and to detect possible complications.