Aortic progression and reintervention in patients with pathogenic variants after a thoracic aortic dissection.

Abstract

To evaluate aortic disease progression and reintervention after an initial thoracic aortic dissection in pathogenic variant carriers. Of 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). The 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%). Aggressive 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.