The many faces of aggressive aortic pathology: Loeys-Dietz syndrome

Aortic dissection and rupture can be associated with generalised connective tissue disorders, especially when these catastrophic events occur at a young age. The vascular type of Ehlers-Danlos syndrome (EDS) and Marfan syndrome (MFS) are the most prevalent connective tissue disorders in these patients.1,2 Recently, however, a newly recognised connective tissue disorder, Loeys-Dietz syndrome (LDS), has been described, which is also accompanied by these severe aortic complications.3 LDS is an autosomal dominantly inherited disorder of connective tissue caused by mutations in the transforming growth factor beta (TGF-β) receptor 1 or 2 genes.3,4 The exact prevalence is unknown but given the fact that LDS has only recently been discovered, many cases might not have been diagnosed yet. The first type of this syndrome (LDS type 1) has many overlapping features with Marfan syndrome (MFS), including aortic root dilatation, arachnodactyly (long slender fingers), dolichostenomelia (thin body habitus and long extremities), pectus deformity and joint laxity, whereas LDS type 2 has features that overlap with the vascular type of EDS (see table 1 for an overview of differentiating characteristics of the syndromes).3,4 Vascular pathology in LDS, however, is more aggressive than in MFS.3-5 It is therefore of uttermost importance to recognise this disorder. This is facilitated by distinctive, frequently occurring and easily recognisable characteristics of LDS (table 1).3,4 …