Early Onset Marfan Syndrome with multivalvular insufficiency: Report from a tertiary hospital in Tanzania, and a review of the recurrent c.7606G>A p.0 variant in FBN1.

Abstract excerpt

Marfan Syndrome is an autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene. Early Onset Marfan Syndrome is at the severe end of the Marfan syndrome spectrum and is frequently associated with variants in exons 24-32 of the FBN1 gene. To the best of our knowledge, this is the first molecularly confirmed patient from Sub-Saharan Africa with Early Onset Marfan Syndrome who presented with...

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