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Ehlers–Danlos Syndrome and Marfan Syndrome 

Ehlers–Danlos Syndrome and Marfan Syndrome
Ehlers–Danlos Syndrome and Marfan Syndrome

Alan Hakim

and Asma Fikree

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date: 15 July 2020

The Hereditary Disorders of Connective Tissue (HDCT) comprise a varied group of conditions that arise from abnormalities of collagen, fibrillin, elastin, and other matrix proteins, and as a consequence of genetic and molecular aberrations. There are a number of rare HDCT. However, three disorders are relatively common, namely, Ehlers–Danlos syndrome (EDS), Marfan syndrome (MFS), and osteogenesis imperfecta. This chapter focuses on the early observations of inheritance, the classification of subgroups, and specific examples of advances in the molecular genetics of EDS, as well as the recognition of the association of MFS with life-threatening cardiac complications, the need for surgical intervention to correct aortic root pathology in MFS, and the identification and therapeutic implications of transforming growth factor β‎ in the pathogenesis of MFS. For both EDS and MFS, there is a wealth of historical landmarks that have arisen over a short period of time.

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