Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene


Mariucci E, Spinardi L, Stagni S, Graziano C, Lovato L, Pacini D, Di Marco L, Careddu L, Angeli E, Ciuca C, Wischmeijer A, Gargiulo G, Donti A.

Am J Med Genet A. 2020 Apr 30. doi: 10.1002/ajmg.a.61608. [Epub ahead of print]

PMID: 32352226

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This study aimed to investigate the potential association between imaging features and cardiovascular outcomes in patients with Loeys-Dietz syndrome (LDS). We performed a retrospective cohort study of 36 patients with LDS and described cardiovascular events and imaging data. We observed different clinical courses in patients with LDS, irrespective of the causative gene. Angular or elongated aortic arch geometry correlated with aortic dissection (R = .39, p = .02), occurrence of the first cardiovascular event before 45 years of age (R = .36, p = .03), and the number of operations (R = 0.47, p = .004), but not with age (R = -.05, p = .79) or the causative gene (R = -0.04, p = .79). The incidences of first cardiovascular events at ages 20, 40, and 60 years were 100, 75, and 56%, respectively, in patients with normal aortic arches, and 74, 39, and 21%, respectively, in patients with angular or elongated aortic arches (log-rank p = .03). Angular or elongated aortic arch geometry is associated with early-onset of disease and a worse cardiovascular outcome in LDS patients. Large multicenter studies are warranted to elucidate the impact of aortic arch morphology evaluation in clinical practice.