Vascular pathology in hereditary connective tissue disorders

Abstract

The large group of hereditary connective tissue disorders includes several hundreds of genetically heterogeneous diseases with systemic connective tissue pathology. The clinical manifestations of the latter are determined by mutation types. Some syndromes are well-known and extensively described (such as Marfan syndrome and Ehlers-Danlos syndrome), while the others have been described only recently and are less known. The clinical presentation of these syndromes typically includes vascular pathology, particularly aortic and arterial disorders, which are the focus of the present review.

Keywords

• connective tissue
• hereditary disorders
• vascular pathology