Surgical treatment of patients enrolled in the national registry of genetically triggered thoracic aortic conditions

Abstract

Background: Genetic disorders are an important cause of thoracic aortic aneurysms (TAAs) in young patients. Despite advances in the treatment of genetically triggered TAAs, the optimal syndrome-specific treatment approach remains undefined. We used data from the National Institutes of Health-funded, multicenter National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) to characterize the contemporary surgical treatment of patients with genetically triggered TAAs.

Methods: GenTAC's aim is to collect longitudinal clinical data and banked biospecimens from 2800 patients with genetically triggered TAAs. We analyzed data from the 606 patients (mean age, 37.5 years) enrolled in GenTAC to date whose clinical data were available.

Results: The patients' primary diagnoses included Marfan syndrome (35.8%), bicuspid aortic valve with aneurysm (29.2%), and familial TAAs and dissections (10.7%). Of these, 56.4% had undergone at least one operation; the most common indications were aneurysm (85.7%), valve dysfunction (65.8%), and dissection (25.4%). Surgical procedures included replacement of the aortic root (50.6%), ascending aorta (64.8%), aortic arch (27.9%), and descending or thoracoabdominal aorta (12.4%). Syndrome-specific differences in age, indications for operation, and procedure type were identified.

Conclusions: Patients with genetically transmitted TAAs evaluated in tertiary care centers frequently undergo surgical repair. Aneurysm repairs most commonly involve the aortic root and ascending aorta; distal repairs are less common. Like TAAs themselves, complications of TAAs, including dissection and aortic valve dysfunction, are important indications for intervention. Future studies will focus on syndrome- and gene-specific phenotypes, biomarkers, treatments, and outcomes to improve the treatment of patients with TAAs.

Figures

Fig 1

Age at first operation in selected diagnosis groups in the GenTAC Registry. The + signs denote mean age in years; the lines within the gray boxes denote median age in years. The gray boxes span the 25th to 75th percentiles. There were several significant differences between diagnosis groups in mean age at the time of first operation (Table 2). (BAVHis = bicuspid aortic valve with known family history; BAVNoHis = bicuspid aortic valve without known family history; EDS = Ehlers-Danlos syndrome; FBN1 = fibrillin-1, transforming growth factor beta receptor 1 or 2, actin alpha 2, or myosin heavy chain 11 mutation; FTAA_D = familial thoracic aortic aneurysms and dissections; LDS = Loeys-Dietz syndrome; Marfan = Marfan syndrome; OthAneu = other aneurysms and dissections in patients

Fig 2

Indications for surgery among patients with Marfan syndrome, BAV without known family history, other TAAs, and FTAAD in GenTAC. Patients with Marfan syndrome were significantly more likely to have aneurysm as an indication for surgery than other patients (p < 0.0001) (#). Patients with BAV were significantly less likely than patients with FTAAD (p = 0.0065), Marfan syndrome (p = 0.0416), and other TAA (p = 0.0117).(*) and more likely to present with valve dysfunction (p < 0.0001 for all comparisons) (^).

Fig 3

Surgical procedures performed for patients with Marfan syndrome, BAV without known family history, other TAAs, and FTAAD in the GenTAC patients. Several significant differences in procedure prevalence were found between various diagnosis groups (*) (see Table 3 for summary). (AVR = aortic valve replacement; MVR = mitral valve replacement; Valve sparing aortic root = valve-sparing aortic root replacement; Asc = ascending; DTA = descending thoracic aorta; TAAA = thoracoabdominal aorta; TAA = thoracic aortic aneurysm.)

Fig 4

Mean aortic diameters of patients with Marfan syndrome, BAV without known family history, other TAAs, and FTAAD at the time of operation. Patients who underwent aortic root replacement had significantly larger aortic diameter than patients who underwent valve-sparing aortic root replacement (p = 0.0029) (*). (Valve sparing aortic root = valve-sparing aortic root replacement; DTA = descending thoracic aorta; TAAA = thoracoabdominal aortic aneurysm)