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Case Reports
. 2017 Mar;99(3):e114-e115.
doi: 10.1308/rcsann.2017.0018.

A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm

A Harky  1 , M Garner  1 , N Roberts
Affiliations
Case Reports

A late presentation of Loeys-Dietz syndrome associated with an aortic root aneurysm

A Harky et al. Ann R Coll Surg Engl. 2017 Mar.

Abstract

Loeys-Dietz syndrome (LDS) is characterised by a mutation in the transforming growth factor beta receptor, and is strongly associated with aortic aneurysms and rupture. Most cases of LDS present in the second decade of life, with the average life expectancy being 37 years. We report a case of suspected LDS (owing to significant family history of the disorder) that presented in the seventh decade of life. Our patient had aortic root dilation and was initially believed to have Marfan syndrome. However, subsequent tests were negative. On further investigation of her family history, it was revealed that she had a strong positive family history of aortic rupture and aneurysms associated with genetically confirmed atypical LDS. By reporting this case, we aim to highlight the importance of considering inherited connective tissue disorders when a patient presents with aortic aneurysms or dissections associated with a strong family history of aortic pathology.

Keywords: Aortic dissection; Aortic root aneurysm; Dietz syndrome; Loeys.

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Figures

Figure 1
Figure 1
Three-dimensional image of the dilated aortic root and coronary arteries
Figure 2
Figure 2
Cardiac magnetic resonance imaging at the level of the aortic root showing dilated aortic root of 4.9 cm
See this image and copyright information in PMC

References

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