Marfan syndrome - vascular manifestations


The CT reveals a type 2 endoleak and a dissection of the descending thoracic aorta

Marfan syndrome is a multisystem connective tissue disease with autosomal dominant inheritance which primarily involving skeleton, eyes, and cardiovascular systems. It results from a defect in fibrillin 1 (FBN1) gene located on chromosome 15q21.1 which is responsible for cross-linking collagen.