Ligaments and genetics: Marfan’s and Ehlers Danlos

Marfan’s syndrome (MFS) is inherited as an autosomal dominant disorder and has been linked to the fibrillin-1 gene on chromosome 15q(21.1) – FBN1. 15% of cases are due to sporadic mutations and therefore there will be no accompanying family history in these individuals which may delay the diagnosis. Fibrillin-1 (a glycoprotein) is a major component of microfibrils found in many connective tissues, and hence explaining the multisystem involvement in MFS. The major systems involved are musculoskeletal, cardiac and ocular. Clinical diagnosis is based on fulfilment of the Ghent criteria.