Diagnosis and Management of Marfan Syndrome (MFS) Throughout the Lifespan

This CME presentation aims to highlight the role of the primary care provider in diagnosis and management of Marfan syndrome. Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that affects many body tissues including blood vessels, eyes, bones, muscles, and ligaments. Pathognomonic findings include aortic root dilation and ectopia lentis. MFS is also often characterized by a constellation of physical manifestations such as arachnodactyly, tall stature, elongated face, flexible joints, and scoliosis. Diagnosis is made using the Modified Ghent Criteria. Primary care providers are responsible for referring the patient to the required specialists. Patients should be treated preventatively with a beta blocker and screened regularly with echocardiograms. Early diagnosis and appropriate management allows the life expectancy of patients with MFS to reach that of the general population.