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.