Cardiovascular complications in the Ehlers‐Danlos syndrome with minimal external findings

Abstract

Ehlers‐Danlos syndrome (EDS) is clinically and genetically a heterogeneous disorder of connective tissue. Eleven different types of EDS have been documented, several of which have major cardiovascular complications as part of their clinical manifestations. The purpose of this report is to call attention to a form of EDS with minimal external features but severe internal vascular complications.

The differences in histological changes among pulmonary vessels divided with an energy device

“…Types I and III collagen connect elastic fibres with smooth muscle cells. Reduced amounts of Type III collagen [13] and abnormal fibrillin production [14] are associated with the development of aortic dissection in patients with Ehlers-Danlos syndrome Type IV. An animal model of this syndrome with a mutation of the gene encoding Type III collagen had no collagen fibrils, and the major vessels tended to rupture [15].…”

Recurrent compartment syndrome in a patient with clinical features of a connective tissue disorder

“…Vascular type EDS is clinically heterogeneous. Although some patients lack the classic external features, nearly all exhibit the internal arterial/bowel complications of aneurysms and/or spontaneous bleeding or rupture and show a deficiency of type III collagen [Sheiner et al, ; Gertsch et al, ; Cikrit et al, ; Shohet et al, ; Bellenot et al, ]. Presumably, the deficiency in type III collagen is due to a mutation in COL3A1 , the gene that encodes for type III procollagen and the only gene that is associated with this form of EDS [Pepin et al, ].…”

Molecular mechanisms and clinical manifestations of rare genetic disorders associated with type I collagen

“…Cardiac-valvular type EDS (cvEDS) is characterized by cardiac valvular defects, joint hypermobility (generalized or restricted to small joints) and skin hyperextensibility, with atrophic scars, thin skin, and easy bruising. Minor criteria for diagnosis include inguinal hernia, pectus deformities, joint dislocations, and foot deformitiess (63,(67)(68)(69). The absence of proα2(I), and α2(I) are observed in all reported seven cvEDS patients (10,12,70,71).…”