Long‐term risk of arch complications in Loeys Dietz syndrome patients undergoing proximal ascending aortic replacement

Abstract

Purpose Loeys‐Dietz syndrome (LDS) is a rare connective tissue disorder. In LDS patients with normal arch morphology, whether the arch should be prophylactically replaced at the time of proximal aortic replacement remains unknown. We evaluated the risk of long‐term arch complications in genetically confirmed LDS patients who underwent proximal ascending aortic replacement. Methods We retrospectively reviewed the records of patients with LDS who have been followed at our institution between 1994 and 2020. Patients were only included if whole exome genetic testing confirmed a mutation in an LDS‐causing gene (TGFBR1, TGFBR2, SMAD3, TGFB2, or TGFB3). Mutations were categorized as pathogenic, benign, or of unknown significance. We collected demographic information, aortic dimensions, comorbidities, mortality, and operative course from patients' charts. Descriptive statistics and freedom from reoperation plots were generated. Results Of the 18 patients with a mutation in an LDS‐causing gene, 15 had known pathogenic variants, two had mutations of unknown significance, and one had a benign genetic variant. For the 15 patients with confirmed pathogenic variants of LDS the median follow‐up duration was 5 years (interquartile range [IQR]: 4–8). Eleven patients underwent ascending aortic replacements (AAR) ± aortic valve replacement. Two patients required an additional operation; one required arch and staged elephant trunk for a dissection 18 years post‐AAR and the other patient required an isolated descending aortic replacement for dissection 5 years post‐AAR. Among patients who underwent surgery, the median ascending aortic diameter at intervention was 5.0 cm (IQR: 4.3–5.3). There was no surgical or late follow‐up mortality observed for any of the 18 patients in the study. Conclusion LDS patients who underwent proximal aortic replacement appeared to have low long‐term risk of arch complications. While our study is somewhat limited by its sample size and follow‐up duration, it suggests that routine prophylactic total arch replacement may not be warranted in LDS patients with nonaneurysmal aortic arches.

Is prophylactic aortic arch replacement justified in patients with Loeys‐Dietz Syndrome who present for ascending repair?

“…In the present issue of the Journal of Cardiac Surgery, Weininger et al set out to find an answer to this difficult question. 2 The authors present a study on 15 patients with LDS who underwent replacement of the aortic root or ascending aorta. Weininger et al aimed to analyze the risk for long-term complications of the aortic arch.…”

Impact of Genotype-Phenotype Interactions on Cardiovascular Function in Paediatric Loeys-Dietz Syndrome

“…Existing evidence suggests that the phenotypic manifestations of LDS in adults extend beyond the confines of the aortic root and sinuses of Valsalva, encompassing the sinotubular junction and ascending aorta as well. 17 , 18 Our study demonstrates that the persistence of such manifestations extends to paediatric cohorts. This is consistent with previous paediatric surgical case reports.…”