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BACKGROUND: Genetic disorders are strongly associated with aortic disease. However, the identities of genetic mutations in sporadic Stanford type A aortic dissection (STAAD) are not clear. The present study analysed the possible genetic mutations of the known pathogenic genes of aortic disease and the clinical characteristics in patients with sporadic STAAD. METHODS: We analysed genetic mutations in 26 genes that underlie aortic aneurysms and dissections in 100 sporadic STAAD patients and 568 healthy controls after whole-genome sequencing (WGS). Clinical features and in-hospital death were determined in all STAAD patients. RESULTS: In total, 60 suspicious pathogenic mutations (56 novel and 4 previously reported) in 19 genes were identified in 50% (50/100) of patients, and 14 patients had more than 1 mutation. The ascending aortic diameter was extended in patients with mutations (49.1±12.3 vs. 43.7±11.2 mm, P=0.023), and the DeBakey type I phenotype was more common in patients with mutations in genes that coded extracellular matrix (ECM) components than in patients with mutations in other genes (96.6% vs. 66.7%, P=0.007). Patients with fibrillin-1 (FBN1) mutations were younger than patients without FBN1 mutations (44.7±11.0 vs. 53.5±12.1, P=0.030). Subgroup analyses revealed an increased risk of in-hospital mortality in mutation carriers (44.4% vs. 10.5%, P=0.029) but only in patients who received conservative treatment. CONCLUSIONS: Half of Chinese patients with a sporadic form of STAAD may carry mutations in known pathogenic genes of aortic disease, and these patients may exhibit distinct clinical features and poor clinical outcomes with the use of conservative treatment.
RESUMO
OBJECTIVE: To investigate the clinical safety and effectiveness of percutaneous embolization in treating the late failed renal allograft in patients with graft intolerance syndrome (GIS). METHODS: Transcatheter embolization of renal graft artery was performed in 18 patients with late graft dysfunction and GIS. The subsequent complications, postoperative symptom remission rate, and prognosis were assessed. RESULTS: GIS was relieved in 15 patients (83.3%), of which 6 patients (33.3%) had severer fever and pain in the area of renal graft after embolization, which lasted for a mean of 3.5 days (range: 2-5 days). GIS persisted for more than 2 weeks in 3 patients (16.7%), who ultimately underwent surgical removal of grafts. No severe embolism-associated complications were noted. CONCLUSION: Percutaneous embolization can effectively avoid surgical graft removal in patients with late renal allograft failure, and therefore can be used as a safe and effective treatment for the late failed renal allograft combined with GIS.