Abstract
Background Patients with genetic aortic syndromes such as Marfan or Loeys-Dietz syndrome have
a decreased life expectancy due to the risk of aortic dissection and rupture. Imaging
plays an important role in the acute setting but also in the initial diagnosis and
image-based monitoring. In this article, we provide an overview of the most common
genetic aortic syndromes and recommended imaging strategies. Furthermore, we highlight
modern imaging methods allowing for the quantification of hemodynamic changes in aortic
disease.
Method This is a narrative review article on genetic aortic syndromes and recommended imaging
strategies, where we take into account expert opinions and standard-of-care practices
from our own center.
Results and Conclusion Radiological imaging plays a key role in the initial diagnosis and surveillance of
patients with genetic aortic syndromes. Radiologists contribute significantly to the
multi-disciplinary setting of genetic aortic syndromes with knowledge of special features
and recommended imaging methods. Accurate measurement of the aorta is crucial, particularly
in terms of diameter-based surgical treatment algorithms. Modern imaging methods like
4D-flow MRI and pulse wave velocity have a potential to further improve individualized
risk stratification in patients with genetic aortic syndromes.
Key points:
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The risk for cardiovascular complications such as acute aortic syndrome is increased
in patients with genetic aortic syndromes.
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Recommended time intervals between image-based monitoring depend on the underlying
aortic disease.
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CT-angiography should be used only in the acute setting.
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Non-contrast MR-angiography is adequate for screening and image-based monitoring of
patients with genetic aortic syndromes.
Citation Format
Key words
genetic aortic syndrome - Loeys-Dietz-syndrome - Ehlers-Danlos-syndrome - Marfan-syndrome
