| Affiliation: | 1. https://orcid.org/0000-0001-5034-0159;2. Marfan and Heritable Thoracic Aortic Disease Clinic, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy;3. Pediatric Cardiology and GUCH Unit, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy;4. Elisabetta Mariucci, Marfan and Heritable Thoracic Aortic Disease Clinic, S.Orsola Malpighi Hospital, University of Bologna, 9 Massarenti Street, Bologna 40138, Italy.;5. Diagnostic and Interventional Neuroradiology Unit, Department of Head, Neck and Sensory Organs, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy;6. Department of Medical Genetics, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy;7. Department of Cardiovascular Interventional Radiology, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy;8. Cardiac Surgery Unit, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy;9. Pediatric and Adult Congenital Heart Cardiac Surgery, S.Orsola Malpighi Hospital, University of Bologna, Bologna, Italy;10. Clinical Genetics Service, Regional Hospital of South Tirol, Bolzano, Italy |
| Abstract: | 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). Relative absences of cardiovascular events at ages 20, 40, and 60 were 100, 75, and 56%, respectively, in patients with “romanesque” aortic arches, and 74, 39, and 21%, respectively, in patients with “gothic” and “elongated” aortic arches (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. |
