MARFAN SYNDROME

Course overview

ONE OF THE MOST COMMON INHERITED DISORDERS AFFECTING CONNECTIVE TISSUE, MARFAN SYNDROME (MFS) IS AN AUTOSOMAL DOMINANT CONDITION WITH A REPORTED INCIDENCE OF 1 IN 3000 TO 5000 INDIVIDUALS. THERE IS A BROAD RANGE OF CLINICAL SEVERITY ASSOCIATED WITH MFS, RANGING FROM ISOLATED FEATURES OF MFS TO NEONATAL PRESENTATION OF SEVERE AND RAPIDLY PROGRESSIVE DISEASE INVOLVING MULTIPLE ORGAN SYSTEMS. THE SYNDROME IS ASSOCIATED WITH CLASSIC OCULAR, CARDIOVASCULAR, AND MUSCULOSKELETAL ABNORMALITIES, ALTHOUGH INVOLVEMENT OF THE LUNG, SKIN, AND CENTRAL NERVOUS SYSTEM MAY ALSO OCCUR. DECREASED LIFE EXPECTANCY OCCURS PRIMARILY DUE TO AORTIC COMPLICATIONS. THIS ACTIVITY REVIEWS THE CAUSE, PATHOPHYSIOLOGY, AND PRESENTATION OF MARFAN SYNDROME AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ITS MANAGEMENT. OUTCOME IMPROVES WITH EARLY DIAGNOSIS, MEDICAL TREATMENT TO DELAY OR PREVENT THE PROGRESSION OF AORTIC DILATATION, AND TIMELY ELECTIVE SURGERY.