Marfan Syndrome Case Study

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After clinical diagnosis of Marfan syndrome is established, transthoraic echocardiography is used to routinely monitor and assess the proximal aorta in order to decrease the risk of aortic dissection. Serial measurements of the proximal aorta, the greatest dimension at the aortic root, sinotubular junction, and ascending aorta are taken at yearly assessments by echocardiography to establish the appropriate time for surgical intervention (Judge & Dietz, 2005). Surgical repair of the aortic root is strongly recommended when the maximum aortic diameter exceeds 5 to 6 cm (Keane & Pyeritz, 2008). To determine the “normal” diameter of the aorta, body size and age is frequently used in scaling normal aortic root dimensions and measurements are indexed…show more content…
Research has shown that aortic dilatation typically occurs at about 0.2 cm/ year in patients with Marfan syndrome (Kornbluth, Schnittger, Eyngorina, Gasner, & Liang, 1999). The medical treatment currently regarded as the standard of care for patients with Marfan syndrome is β-adrenergic receptor blockade in order to delay or prevent aortic aneurysm and dissection (Keane& Pyeritz, 2008). This method of treatment was first suggested in 1971, with the presumption that β-blocker therapy can decrease hemodynamic stressors, both negative inotropic and chronotropic, to the proximal aorta and therefore slow the progression of aortic dilation (Judge& Dietz, 2005). There was a randomized trial published in the 1990s assessing the effect of β blockers in Marfan syndrome and the results showed that the treatment group had a significantly lower rate of aortic growth than the control group (Keane & Pyeritz, 2008). Until more effective treatment directed at the fibrillin gene defect associated with Marfan syndrome can be developed, β-blocker therapy currently remains the standard of
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