Discrepancy of echocardiography and computed tomography in initial assessment and 2-year follow-up for monitoring Marfan syndrome and related disorders

Patients with Marfan syndrome and related disorders are at risk for aortic dissection and aortic rupture and therefore require appropriate monitoring. Computed tomography (CT) and transthoracic echocardiography (TTE) are routinely used for initial diagnosis and follow-up. The purpose of this study is to compare whole-heart CT and TTE aortic measurement for initial work-up, 2-year follow-up, and detection of progressive aortic enlargement. This retrospective study included 95 patients diagnosed with Marfan syndrome or a related disorder. All patients underwent initial work-up including aortic diameter measurement using both electrocardiography-triggered whole-heart CT and TTE. Forty-two of these patients did not undergo aortic repair after initial work-up and were monitored by follow-up imaging within 2 years. Differences between the two methods for measuring aortic diameters were compared using Bland–Altman plots. The acceptable clinical limit of agreement (acLOA) for initial work-up, follow-up, and progression within 2 years was predefined as < ± 2 mm. Bland–Altman analysis revealed a small bias of 0.2 mm with wide limits of agreement (LOA) from + 6.3 to − 5.9 mm for the aortic sinus and a relevant bias of − 1.6 mm with wide LOA from + 5.6 to − 8.9 mm for the ascending aorta. Follow-up imaging yielded a small bias of 0.5 mm with a wide LOA from + 6.7 to − 5.8 mm for the aortic sinus and a relevant bias of 1.1 mm with wide LOA from + 8.1 to − 10.2 mm for the ascending aorta. Progressive aortic enlargement at follow-up was detected in 57% of patients using CT and 40% of patients using TTE. Measurement differences outside the acLOA were most frequently observed for the ascending aorta. Whole-heart CT and TTE measurements show good correlation, but the frequency of measurement differences outside the acLOA is high. TTE systematically overestimates aortic diameters. Therefore, whole-heart CT may be preferred for aortic monitoring of patients with Marfan syndrome and related disorders. TTE remains an indispensable imaging tool that provides additional information not available with CT.