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

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.