Strategies to prevent aortic complications in Marfan syndrome

Extensive Aortic Dissection from Aortic Root to Iliac Artery

“…8 Pharmacological management, with b-blockers to lower blood pressure and/or the inotropic state of the heart and angiotensin receptor blockers, is also recommended. 2,4,9 Nevertheless, inadequate surveillance and poor compliance with medication proved to be ineffective and contributed to worsen our patient's condition over a 6-year period. Notably, if left untreated, mortality in patients with type A and type B dissection can reach 58% and 31.4%, respectively.…”

Successful repair of a popliteal aneurysm with saphenous vein graft in a patient with Marfan syndrome

“…MFS is an autosomal dominant disease of the connective tissue with multisystem manifestations, in particular the cardiovascular, ocular, and skeletal systems 1, 2, 4, 10, 11. It is caused by one of more than 1000 mutations identified in the FBN1 gene encoding the fibrillin 1 protein 12 . Prevalence is 1 in 5000, inherited with high penetrance but with variability in its presentation 2 …”

“…Mutations directly weaken the elastin layer of the artery, particularly in the aorta 7, 11. Subsequently, the aorta has decreased capacity to tolerate forces created by the heart and is subject to aneurysmal degeneration, dissection, and rupture 11, 12. The ratio of elastin to stiffer structural proteins like collagen decreases from 60:40 in the thoracic aorta to 30:70 in the periphery 18 .…”

“…Thoracic aortic aneurysms lead to devastating sequelae; therefore, early intervention significantly increases life expectancy 4, 11, 12, 13. Despite operative success, patients continue to experience arterial degeneration throughout life and require reoperations 14 .…”

“…Marfan syndrome (MFS) is an autosomal disorder caused by mutations in the fibrillin 1 gene ( FBN1 ), leading to decreased elasticity of the arterial media 1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15. Thoracic aortic aneurysms and dissections are predominantly seen 1, 4, 5, 7, 11, 12, 13. Because of the systemic nature of the disease, it is reasonable to believe that other arteries are affected.…”