doi: 10.1161/01.CIR.0000155243.70456.F4
(Circulation. 2005;111:e150-e157.)
© 2005 American Heart Association, Inc.
Clinician Update |
Treatment of Aortic Disease in Patients With Marfan Syndrome
From the Department of Internal Medicine, University of Texas Medical School at Houston (D.M.M.); Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Md (H.C.D.); and Department of Cardiothoracic Surgery, Stanford University School of Medicine, Stanford, Calif (D.C.M.).
Correspondence to Dianna M. Milewicz, MD, PhD, University of Texas Medical School at Houston, 6431 Fannin, MSB 4.202, Houston, TX 77030. E-mail Dianna.M.Milewicz@uth.tmc.edu
An extract of the first 250 words of the full text is provided, because this article has no abstract. |
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Introduction |
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Marfan syndrome (MFS) is a heritable disorder of the connective tissue with a prevalence of
1 in 3000 to 5000 individuals. The condition is inherited in an autosomal dominant manner with complete penetrance but demonstrates variable expression with significant intra- and interfamilial variation. Approximately 25% of patients do not have a family history and represent sporadic, new mutations for the condition. The cardinal features of MFS involve the cardiovascular, ocular, and skeletal systems. The most life-threatening complication of MFS is thoracic aortic aneurysms leading to aortic dissection, rupture, or both. This article focuses on medical and surgical treatment of aortic disease in patients with MFS and addresses the treatment of aortic disease in children and pregnant women with the condition.
The most common cardiovascular complication in patients with MFS is progressive aortic root enlargement initially occurring at the sinuses of Valsalva. Ascending aortic aneurysm can precipitate acute type A aortic dissection, aortic rupture, aortic regurgitation (AR), or all 3, and these complications were the primary cause of death before the advent of successful preventive therapies. Treatment of the aorta consists of regular imaging to detect and quantify progression of aortic dilation, ß-adrenergic receptor antagonist therapy, and prophylactic aortic repair when the dilation reaches a sufficient size to threaten dissection or cause AR. Before the era of open-heart surgery, the majority of patients with MFS died prematurely of rupture of the aorta, with an average life expectancy of 45 years.1 The success of current medical and surgical treatment of aortic disease
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