Which imaging studies are recommended for assessing cardiovascular complications in patients with Marfan syndrome?

For assessing cardiovascular complications in patients with Marfan syndrome, the recommended imaging studies primarily include transthoracic echocardiography (TTE) as the first-line modality to evaluate aortic root dimensions, valve function, and ventricular performance due to its accessibility and ability to provide dynamic assessment of cardiac structures ¹. Additionally, cardiovascular magnetic resonance imaging (MRI) is strongly advised for detailed evaluation of the entire aorta, especially the ascending, arch, and descending segments, to detect aneurysms, dissections, or other aortic pathology that may not be fully visualized by echocardiography ¹. Computed tomography angiography (CTA) can be used as an alternative or complementary imaging technique when MRI is contraindicated or unavailable, offering high-resolution images of the aorta and branch vessels ¹. Recent literature emphasizes the importance of serial imaging with these modalities to monitor progression of aortic dilation and myocardial function, highlighting that MRI also provides valuable information on myocardial fibrosis and ventricular function abnormalities that may contribute to heart failure and arrhythmias in Marfan syndrome (Demolder et al., 2020). Furthermore, advanced imaging techniques including 4D flow MRI are emerging to better characterize aortic hemodynamics and wall stress, potentially improving risk stratification for aortic complications (Udugampolage et al., 2024). In paediatric patients with FBN1-related Marfan syndrome, early and regular imaging surveillance using echocardiography and MRI is critical to guide timely intervention (Muiño-Mosquera et al., 2024). Thus, an integrated imaging approach combining echocardiography for routine monitoring and MRI for comprehensive aortic and myocardial assessment represents the current best practice for cardiovascular evaluation in Marfan syndrome ¹; (Demolder et al., 2020); (Udugampolage et al., 2024); (Muiño-Mosquera et al., 2024).