![]() ![]() It is named after French pediatrician Antoine Marfan, who first described it in 1896. Rates of the condition are similar in different regions of the world. Ībout 1 in 5,000 to 1 in 10,000 people have MFS. Avoiding strenuous exercise is recommended for those with the condition. Surgery may be required to repair the aorta or replace a heart valve. Management often includes the use of beta blockers such as propranolol or atenolol or, if they are not tolerated, calcium channel blockers or ACE inhibitors. Many of those with the disorder have a normal life expectancy with proper treatment. Diagnosis is often based on the Ghent criteria. In about 75% of cases, it is inherited from a parent with the condition, while in about 25% it is a new mutation. MFS is caused by a mutation in FBN1, one of the genes that make fibrillin, which results in abnormal connective tissue. The severity of the symptoms is variable. ![]() The lungs, eyes, bones, and the covering of the spinal cord are also commonly affected. The most serious complications involve the heart and aorta, with an increased risk of mitral valve prolapse and aortic aneurysm. They also typically have exceptionally flexible joints and abnormally curved spines. Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. ![]() Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. Loeys-Dietz syndrome, Ehlers-Danlos syndromeīeta blockers, calcium channel blockers, ACE inhibitors Scoliosis, mitral valve prolapse, aortic aneurysm Tall thin build long arms, legs and fingers flexible fingers and toes Ectopia lentis in Marfan syndrome: Zonular fibers are seen. ![]()
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