Perrone Marco Alfonso, Moscatelli Sara, Guglielmi Giulia, Bianco Francesco, Cappelletti Deborah, Pellizzon Amedeo, Baggiano Andrea, Diviggiano Enrico Emilio, Ricci Maria, Bassareo Pier Paolo, Pradhan Akshyaya, Mandoli Giulia Elena, Cimini Andrea, Caminiti Giuseppe
Division of Cardiology and CardioLab, Department of Clinical Sciences and Translational Medicine, University of Rome Tor Vergata, 00133 Rome, Italy.
Clinical Pathways and Epidemiology Unit, Bambino Gesù Children's Hospital IRCCS, 00165 Rome, Italy.
Diagnostics (Basel). 2025 Jan 14;15(2):172. doi: 10.3390/diagnostics15020172.
Marfan syndrome (MFS) is a genetic disorder affecting connective tissue, often leading to cardiovascular complications such as aortic aneurysms and mitral valve prolapse. Cardiovascular multimodality imaging plays a crucial role in the diagnosis, monitoring, and management of MFS patients. This review explores the advancements in echocardiography, cardiovascular magnetic resonance (CMR), cardiac computed tomography (CCT), and nuclear medicine techniques in MFS. Echocardiography remains the first-line tool, essential for assessing aortic root, mitral valve abnormalities, and cardiac function. CMR provides detailed anatomical and functional assessments without radiation exposure, making it ideal for long-term follow-up. CT offers high-resolution imaging of the aorta, crucial for surgical planning, despite its ionizing radiation. Emerging nuclear medicine techniques, though less common, show promise in evaluating myocardial involvement and inflammatory conditions. This review underscores the importance of a comprehensive imaging approach to improve outcomes and guide interventions in MFS patients. It also introduces novel aspects of multimodality approaches, emphasizing their impact on early detection and management of cardiovascular complications in MFS.
马凡综合征(MFS)是一种影响结缔组织的遗传性疾病,常导致心血管并发症,如主动脉瘤和二尖瓣脱垂。心血管多模态成像在马凡综合征患者的诊断、监测和管理中起着至关重要的作用。本文综述了超声心动图、心血管磁共振成像(CMR)、心脏计算机断层扫描(CCT)和核医学技术在马凡综合征中的进展。超声心动图仍然是一线工具,对于评估主动脉根部、二尖瓣异常和心脏功能至关重要。CMR可提供详细的解剖和功能评估,且无辐射暴露,非常适合长期随访。CT能提供主动脉的高分辨率成像,尽管存在电离辐射,但对手术规划至关重要。新兴的核医学技术虽然不太常用,但在评估心肌受累情况和炎症状态方面显示出前景。本文综述强调了采用综合成像方法以改善马凡综合征患者的治疗效果和指导干预措施的重要性。它还介绍了多模态方法的新方面,强调了它们对马凡综合征心血管并发症早期检测和管理的影响。