• Elizabeth L Norton, Whitney E Hornsby, Xiaoting Wu, Brooke N Wolford, Sarah E Graham, Cristen J Willer, and Bo Yang.
• Creighton University School of Medicine, Omaha, Neb.
• J. Thorac. Cardiovasc. Surg. 2021 Nov 1; 162 (5): 1436-1448.e6.

ObjectiveTo evaluate aortic disease progression and reintervention after an initial thoracic aortic dissection in pathogenic variant carriers.MethodsOf 175 participants diagnosed with thoracic aortic dissection, 31 had a pathogenic variant (pathogenic group) across 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, TGFBR2) identified by whole exome sequencing. Those with benign or normal variants (benign/normal group, n = 144) comprised the control group. Clinical data were collected through medical record review (1985-2018) and supplemented with the National Death Index database (December 2018).ResultsThe entire cohort (n = 175) consisted of 108 type A aortic dissections and 67 type B aortic dissections, similarly distributed between groups. The pathogenic group was significantly younger (43 vs 56 years, P < .0001) and had significantly more aortic root replacements and similar extents of arch replacement at initial type A aortic dissection repair. The median follow-up time was 7.5 (4.6-12) years. After initial treatment, the pathogenic group required significantly more aortic reinterventions (median 1 vs 0, P < .0001) and mean cumulative aortic reinterventions for each patient (10 years: 1 vs 0.5, P = .029). Both incidence rate (12%/year vs 1.2%/year, P = .0001) and cumulative incidence of reinterventions (9 years: 70% vs 6%, P < .0001) for the preserved native aortic root were significantly higher in the pathogenic group, but were similar for the preserved native aortic arch and distal aorta between groups. Ten-year survival was similar in the pathogenic and benign/normal groups (92% vs 85%).ConclusionsAggressive aortic root replacement and similar arch management should be considered in pathogenic variant carriers at initial type A aortic dissection repair compared with benign/normal variant carriers.Copyright © 2020 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

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