Study note

Marfan syndrome: inheritance and connective tissue defect

THE CONTEXT

Marfan syndrome is a rare inherited connective tissue disorder associated with a high risk of aortic aneurysm and dissection.

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Marfan syndrome affects 0.02% of the population and has autosomal dominant inheritance.

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Mutations in FBN1 cause fibrillin-1 deficiency, leading to reduced microfibril formation.

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Reduced microfibril formation disrupts the mechanical integrity of connective tissue and produces a wide range of clinical features.

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