INTRODUCTION Marfan syndrome (MFS) is an inherited connective tissue disease that occurs following an autosomal dominant gene mutation in the fibrillin-1gene (FBN1) 1. The protein produced by this mutated gene is an essential component of most connective tissue and being structurally abnormal, results in a wide range of specific ophthalmological, skeletal, and cardiovascular abnormalities that characterize MFS 1. The disease was discovered when Antoine - Bernard Marfan diagnosed a 5-year-old named Gabrielle who presented with skeletal signs 2. Current studies estimate the prevalence of MFS at 6.5/100,00 3. Experts, in 1986, at Berlin created the first clinical criteria for diagnosing MFS known as the Berlin Nosology 2. A new criterion was detailed in 1996 (Ghent I criteria) on account of high false positive results. In 2010 the Ghent 1 criterion was modified to include specifically FBNI mutation, aortic root dilatation, and ectopic lentis as the mainstay of MFS diagnosis (Ghent II). The formulation of this nosology was essential for the avoidance of inconclusive diagnosis and differentiation from conditions presenting with similar manifestations 1, 2. Clinical manifestations of this disorder include cardiovascular, ophthalmic, musculoskeletal, craniofacial, and cutaneous abnormalities 4. Amongst the cardiovascular manifestations, aortic dilatation and mitral regurgitation from mitral valve prolapse occur frequently5, 6.In this case report we describe the incidental finding of a young African male with classic Marfan’s syndrome but initially diagnosed at the age of 23years. We further explore the barriers to early diagnosis in our part of the world.
