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Report of the National Heart, Lung, and Blood Institute and National Marfan Foundation Working Group on Research in Marfan Syndrome and Related Disorders
source: Circulation
year: 2008
authors: Pearson GD, Devereux R, Loeys B, Maslen C, Milewicz D, Pyeritz R, Ramirez F, Rifkin D, Sakai L, Svensson L, Wessels A, Van Eyk J, Dietz HC
summary/abstract:Aortic aneurysm and dissection is a common phenotype, accounting for 1% to 2% of all deaths in industrialized countries and ≈50 000 deaths annually in the United States.1 In contrast to abdominal aortic aneurysm, thoracic aortic aneurysm, particularly in the ascending segment, commonly occurs in young individuals in the absence of identifiable environmental risk factors. Marfan syndrome (MFS) is the most common syndromic presentation of ascending aortic aneurysm, but other syndromes such as vascular Ehlers-Danlos syndrome and Loeys-Dietz syndrome (LDS) also have ascending aortic aneurysms and the associated cardiovascular risk of aortic dissection and rupture. Familial segregation of the risk for ascending aortic aneurysm can also occur in the absence of associated systemic findings of a connective tissue abnormality in patients with familial thoracic aortic aneurysm and dissection (FTAAD) or bicuspid aortic valve with ascending aortic aneurysm (BAV/AscAA). The knowledge gained through basic and clinical research focused on MFS has improved and will continue to improve the care of patients with these related conditions.
organization: National Heart, Lung, and Blood InstituteDOI: 10.1161/CIRCULATIONAHA.108.783753
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