Marfan Syndrome: Causes, Inheritance, and Diagnosis

Marfan syndrome is usually inherited from a parent with the mutated FBN1 gene. ~25% of cases arise from de novo (spontaneous) mutations.

Diagnosis can occur at any age but often in childhood/adolescence when physical signs (tall stature, long limbs, lens dislocation, aortic root dilation) are most apparent. Based on clinical criteria (Ghent nosology) and family history.