Different connective tissue disorders lead to similar outcomes of aortic disease:  Are we missing something?

Abstract

A myriad of heritable connective tissue disorders (CTDs) have been linked to an increased risk of developing aortic diseases and associated clinical complications such as aortic aneurysm, dissection, and/or rupture. Marfan syndrome, one of the two CTDs investigated by Aranda-Michel et al., 1 is usually caused by mutations in the FBN1gene producing abnormal fibrillin-1 proteins and is the most common. 2,3 Ehlers-Danlos syndromes (EDSs) however, are a heterogeneous group of CTDs consisting of 13 clinical subtypes, of which type IV or vascular EDS (vEDS) is caused by mutations in the COL3A1-gene leading to abnormalities in type III collagen. 4,5 The vEDS subtype represents around 5%-10% of the patients with EDSs. 6