Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that segregate with a similar pattern of cardiovascular defects (thoracic aortic aneurysm, mitral valve prolapse/regurgitation, and aortic dilatation with regurgitation). This pattern of cardiovascular defects appears to be expressed along a spectrum of severity in many heritable connective tissue disorders and raises suspicion of a relationship between the normal development of connective tissues and the cardiovascular system. With overwhelming evidence of the involvement of aberrant Transforming Growth Factor-beta (TGF-β) signaling in MFS and LDS, this signaling pathway may represent the common link in the relationship between connective tissue disorders and their associated cardiovascular complications. To further explore this hypothetical link, this chapter will review the TGF-β signaling pathway, the heritable connective tissue syndromes related to aberrant TGF-β signaling, and will discuss the pathogenic contribution of TGF-β to these syndromes with a primary focus on the cardiovascular system.
Keywords: Activin receptor-like kinase (ALK); Aneurysm; Aneurysm-osteoarthritis syndrome (AOS); Aorta; Aortic aneurysm thoracic (AAT); Arterial tortuosity syndrome (ATS); Arteriovenous malformation; BMP receptor; Beta blockers; Collagen; Curacao diagnostic criteria; Doxycycline; Ehlers-Danlos syndrome (EDS); Endoglin; Extracellular matrix; Extracellular signal related kinase (ERK); Familial thoracic aortic aneurysm and dissection syndrome (FTAAD); Fibrillin; Fibrodysplasia Ossificans progressive (FOP); Genetic testing; Hereditary hemorrhagic telangiectasia (HHT); Integrins; Loeys-Dietz syndrome (LDS); Losartan; Marfan syndrome (MFS); Metalloproteinase; Mitogen-activated protein kinase (MAPK); Mitral valve; Primary pulmonary hypertension; SMAD; Shprintzen-Goldberg syndrome; TGF-β receptor; Thoracic aortic aneurysm and dissection syndrome; Transforming growth factor-β (TGF-β).
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