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Marfan syndrome is a genetic disorder of the connective tissue — the cells that support or connect different structures in the body. People with Marfan syndrome may have long, thin arms and legs, chest wall abnormalities, a curved spine and lens dislocation or severe myopia (nearsightedness). Marfan syndrome's most dangerous features are enlargements of the aorta and defects of the heart's mitral valve.
Although Marfan syndrome shares features with other connective-tissue disorders such as Loeys-Dietz, Shprintzen-Goldberg and Ehlers-Danlos syndromes, it stems from different genetic mutations. The conditions are also managed differently.
Meet Dr. Harry (Hal) Dietz, whose discovery of genes for Loeys-Dietz and Marfan syndromes is contributing to treatments for these and other conditions..
Our physicians are world experts in the diagnosis and treatment of Loeys-Dietz syndrome.
For Cardiovascular Complications
For Orthopaedic Complications
For Pulmonary Complications
Johns Hopkins is one of the premier centers specializing in the research, diagnosis and treatment of Marfan syndrome.
Discovering Marfan syndrome's genetic cause — a flawed protein in connective tissue — should have convinced doctors to give up on finding a real treatment. But Johns Hopkins researchers kept digging and found a way to treat the flaw using a decades-old medication.