13th March 2024

Pathophysiology

Marfan’s syndrome is a systemic connective tissue disorder which affects around 1 in 3000 to 5000 people. Around 75% of Marfan’s syndrome is inherited from an affected parent in an autosomal dominant pattern, but inheritance can also be autosomal recessive or occur due to a de novo mutation. 

Marfan’s syndrome most commonly results from a genetic mutation in fibrillin-1 (FNB-1), which affects the elastic properties of connective tissues in multiple body systems, including musculoskeletal, ophthalmic, respiratory and cardiovascular. Some cases of Marfan’s syndrome are due to a mutation in TGF-beta receptor 2 (TGFBR2).