Aortale Bildgebung als Schlüssel zur Therapie genetischer Aortenerkrankungen

Background: Imaging is a key factor in the management of individuals with genetic aortic diseases, such as Marfan syndrome, vascular Ehlers-Danlos syndrome and Loeys-Dietz syndrome. Imaging is essential for identifying individuals with genetic aortic syndromes and for diagnostics of acute aortic syndromes in affected individuals. Imaging modalities for elective and emergency diagnostics comprise transthoracic echocardiography, transesophageal echocardiography, computed tomography (CT) with CT angiography and magnetic resonance imaging (MRI) with MR angiography. Objectives: The importance of echocardiographic M‑mode image segmentation method for measurement of changes in stiffness of the aorta. Materials und Methods: Study on measurement of stiffness of the aorta in Marfan syndrome in comparison to healthy subjects. Results: Using the non-invasive semiautomatic echocardiographic M‑mode image segmentation method, reduction in the elastic properties of the aorta can be exactly and objectively measured in young patients with Marfan syndrome. Conclusions: Imaging procedures are essential for identifying genetic aortic diseases, for stratifying aortic risk and for diagnosing acute aortic syndrome. For reasons of radiation protection, echocardiography and MRI should be preferentially used for follow-up in young patients.