Natural Evolution of a Marfan’s Syndrome in a Medical Desert in Sub-Saharan Africa: Case Report

Abstract

Marfan syndrome is an autosomal dominant connective tissue disorder associated with a mutation in the Fibrillin-1 (FBN1) gene on chromosome 15. It is a rare disease that affects one in 3,000 to 5,000 people. We describe here the case of a 35-year-old young man suffering from this syndrome and whose diagnosis was made at the terminal stage of the evolution in an environment lacking any means of diagnosis and care in sub-Saharan Africa.