Abstract
BACKGROUND: In Marfan's syndrome progressive dilation of the sinuses of Valsava, the supra-aortic ridge and the ascending aorta are well characterized abnormalities likely to set the stage for severe aortic sequelae accounting for 70% of lethal complications. However, the specific anatomical, clinical, and prognostic profiles of aortic pathology are less well characterized in the setting of patients with Marfan's syndrome symptomatic from aortic complications. HYPOTHESIS: The study was designed to characterize the spectrum of anatomical, clinical, and prognostic profiles of thoracic aortic disease in symptomatic patients with Marfan's syndrome compared with patients with arterial hypertension. Noninvasive imaging techniques were used for comprehensive mapping of aortic pathology associated with Marfan's syndrome. METHODS: Thirty-five consecutive patients with Marfan's syndrome (16 women, 19 men; mean age 35 +/- 12 years) were imaged by transthoracic (TTE; n = 26) and transesophageal echocardiography (TEE; n = 11), contrast enhanced computed tomography (XCT; n = 16), or magnetic resonance techniques (MRI; n = 14). Diagnostic results were compared with both intraoperative or angiographic findings and also with a group of 85 consecutive patients with aortic pathology associated with arterial hypertension. RESULTS: Aortic pathology was more frequently confined to the ascending aorta (p < 0.05) and aortic regurgitation was more prevalent in Marfan's syndrome than in arterial hypertension (p < 0.05). In 23 cases (66%) of dissection and 12 cases (34%) of nondissecting aneurysms, no Marfan-specific aortic macropathology was identified when compared with arterial hypertension. Diagnostic results of TEE, XCT, and MRI were all excellent; however, in contrast to the transesophageal ultrasound approach, transthoracic ultrasound was not useful in the detection of aortic dissection and intramural hemorrhage. Both 30-day (100 vs. 70%; p < 0.05) and 5-year survival rates (91 vs. 57%; NS) were higher in patients with Marfan's syndrome than in those with arterial hypertension. Repeat surgery, however, was more frequently required in patients with Marfan's syndrome (25% vs. none in aortic aneurysm; p < 0.05). CONCLUSIONS: There are no macropathologic findings of the aorta specific for Marfan's syndrome. In patients with Marfan's syndrome with an inherently high rate of aortic complications, serial noninvasive imaging should be encouraged, preferably utilizing TEE or MRI.