Objective:To identify the causative genes of sporadic thoracic aortic aneurysm or dissection (TAAD) and their correlation with clinical phenotype in the southern Chinese.Methods:We analyzed 11 core genes of TAAD probands without specific family history of 226 cases by next-generation sequencing technology, and performed sanger sequencing for their close relatives. Clinical data of each patient, including age of onset, syndromic phenotypes, involvement of aortic root, aortic maximum diameter and D-dimer were collected. And statistical software SPSS was used to evaluate the correlation between clinical phenotypes and gene mutations.Results:A total of 106 variants were detected in 226 probands with gene-positive frequency of 44.69%, consist of 16 pathogenic (P) variants, 18 likely pathogenic (LP) variants and 71 variants of uncertain significance (VUS). More than half of the mutations were from the non-syndromic TAAD, in which the FBN1 still was the most common causative gene. Earlier age of onset, an increase of women, larger diameter of aorta, Stanford B dissection and severe aortic regurgitation were likely to occur on carriers of P/LP, while thoracic aortic aneurysm occurs on carriers of VUS. Phenotype of both syndrome and dissection with aneurysm could increase the likelihood of carrying gene mutation, but D-dimer and involvement of aortic root couldn’t.Conclusion:Patients with sporadic aortic diseases in southern China have significant genetic heterogeneity and specific correlation between their clinical phenotype and gene mutation, especially in non-syndromic population. Earlier age of onset in carriers of FBN1 or ACTA2 genes, and larger maximum diameters of aorta in carrier of P/LP.

Objective    To explore the risk factors and predictive value of acute kidney injury (AKI) after total aortic arch replacement. Methods    The clinical data of patients undergoing total aortic arch replacement in our hospital from January 2018 to June 2019 were retrospectively analyzed, and patients receiving preoperative renal replacement therapy and missing creatinine values were excluded. According to whether postoperative AKI occurred, patients were divided into an AKI group and a control group. The univariate and multivariate analyses (logistic regression) were used to explore the independent risk factors of AKI. The receiver operating characteristic curve was used to analyze the significant factors in predicting the occurrence of AKI after total aortic arch replacement. Results    A total of 162 patients were included in the study, including 135 (83.3%) males and 27 (16.7%) females, with an average age of 52.61±9.90 years (range: 22 to 73 years). The incidence of AKI was 68.5% (n=111). The results of univariate and multivariate analyses showed that the postoperative serum cystatin C level (OR=76.145, 95%CI 15.575-372.260, P<0.01) was an independent risk factor for AKI after total aortic arch replacement. When its cut-off value was above 1.08 mg/L, the specificity for predicting postoperative AKI was 70.59%, and the sensitivity was 85.59%. Conclusion    The postoperative cystatin C level is an independent risk factor for AKI after total aortic arch replacement and has predictive value.