Marfan syndrome is a heritable connective tissue disease with typical impairment of multiple organ systems. The condition is primarily caused by mutations in the fibrillin 1 gene. The diagnosis is based on the demonstration of clinical manifestations and is often complicated by several factors, including age-dependent expression, the important inter- and intrafamilial variability, and overlap with other connective tissue disorders and disorders of the aorta, which are discussed in this chapter. Additional molecular genetic testing may be useful / necessary in certain cases to confirm the diagnosis as illustrated in the cases presented. We will also review the molecular aspects of the disorder with particular emphasis on the different structural and functional roles of fibrillin 1 assemblies. Finally, we will discuss the current concepts of treatment for Marfan syndrome.
KeywordsDissecting aneurysm Fibrillin 1 Marfan syndrome Mechanosensing TGFβ signaling
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