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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.
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Thoracic aortic dissection (TAD) without familial clustering or syndromic features is known as sporadic TAD (STAD). So far, the genetic basis of STAD remains unknown. Whole exome sequencing was performed in 223 STAD patients and 414 healthy controls from the Chinese Han population (N = 637). After population structure and genetic relationship and ancestry analyses, we used the optimal sequence kernel association test to identify the candidate genes or variants of STAD. We found that COL3A1 was significantly relevant to STAD (P = 7.35 × 10
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Humans , Aortic Dissection/genetics , Case-Control Studies , Cluster Analysis , Cohort Studies , Collagen Type III/genetics , Computational Biology , Genetic Predisposition to DiseaseABSTRACT
OBJECTIVE@#To explore genetic mutation types and their correlation with clinical phenotypes in Uighur patients with aortic disease in Kashgar (Xinjiang Uighur Autonomous Region, China).@*METHODS@#We examined 37 pathogenic genes in 19 Uighur families with aortic diseases including Marfan syndrome from Kashgar using next generation sequencing, and the results were confirmed by Sanger sequence in the first relatives.@*RESULTS@#This study included 19 families with aortic diseases, in whom a total of 23 variants were identified, and 11 (57.89%) probands had one or more variants. Among them, definite pathogenic mutation was detected in one patient (5.26%), variants of uncertain significance (VUS) were found in 8 (42.11%), and benign/likely benign variants were detected in 7 (36.84%). The 23 variants identified included one (5.26%) pathogenic variant, 14 (60.87%) VUS, and 8 (34.78%) benign/likely benign variants. The 14 VUS were analyzed by prediction with SIFT and Polyphen2 HDIV, which identified 6 (42.86%) variants as deleterious/possibly damaging; all the 8 benign/likely benign variants were predicted to be deleterious/possibly damaging.@*CONCLUSIONS@#We detected 23 genetic variants in the 19 Uighur families with aortic diseases, and 22 of these variants remain to be verified by more patient data in future studies.
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Humans , Aortic Diseases , China , Genetic Predisposition to Disease/genetics , High-Throughput Nucleotide Sequencing , Mutation , PhenotypeABSTRACT
Thoracic aortic dissection (TAD) is one of the most lethal aortic diseases due to its acute onset, rapid progress, and high rate of aortic rupture. The pathogenesis of TAD is not completely understood. In this mini-review, we introduce three emerging experimental mouse TAD models using β-aminopropionitrile (BAPN) alone, BAPN for a prolonged duration (four weeks) and then with added infusion of angiotensin II (AngII), or co-administration of BAPN and AngII chronically. We aim to provide insights into appropriate application of these three mouse models, thereby enhancing the understanding of the molecular mechanisms of TAD.
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Thoracic aortic dissection (TAD) is one of the most lethal aortic diseases due to its acute onset, rapid progress, and high rate of aortic rupture. The pathogenesis of TAD is not completely understood. In this mini-review, we introduce three emerging experimental mouse TAD models using β-aminopropionitrile (BAPN) alone, BAPN for a prolonged duration (four weeks) and then with added infusion of angiotensin II (AngII), or co-administration of BAPN and AngII chronically. We aim to provide insights into appropriate application of these three mouse models, thereby enhancing the understanding of the molecular mechanisms of TAD.
Subject(s)
Animals , Male , Mice , Aminopropionitrile/toxicity , Aortic Dissection/pathology , Angiotensin II/toxicity , Aortic Aneurysm, Thoracic/pathology , Disease Models, Animal , Mice, Inbred C57BLABSTRACT
Objective To evaluate the safety and effectiveness of thoracic endovascular aortic repair (TEVAR) in treating Standford type B thoracic aortic dissection complicated by type A intramural hematoma.Methods From October 2015 to January 2017,a total of 3 patients with Standford type B thoracic aortic dissection complicated by type A intramural hematoma were admitted to authors' hospital to receive treatment.After admission,conservative treatment such as stabilizing blood pressure and heart rate,symptomatic medication,etc.were carried out for 14 days,then,TEVAR was performed.Results Successful TEVAR was accomplished in all 3 patients,no serious complications,such as reverse tear,occurred.One month after TEVAR,reexamination of total aortic CT angiography revealed that the rupture of dissection was completely closed with no internal leakage,the blood flow in the true lumen was obviously improved,the intramural hematoma was remarkably absorbed and faded away,and the wall thickness of ascending aorta returned to normal range.The clinical symptoms were greatly improved,no serious complications such as paraplegia or death occurred.Conclusion For the treatment of Standford type B thoracic aortic dissection complicated by type A intramural hematoma,TEVAR performed at 14 days after the onset of disease is safe and effective if the ascending aorta intima is intact and the clinical symptoms are relived after medication of lowering blood pressure and heart rate.
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Objective To analyze the learning curve of an experienced interventional radiologist engaged in thoracic endovascular aortic repair (TEVAR) for Stanford type B aortic dissection.Methods The clinical data of 70 patients with Stanford type B aortic dissection,who received TEVAR that was carried out by the same group of interventional physicians over the past 10 years,were retrospectively analyzed.According to the sequence of operation date,the patients were equally divided into group A,B,C,D and E with 14 patients in each group.The operation time,procedure-related complications,postoperative hospitalization days were compared among the 5 groups,and the curative effects at different stages were evaluated.Results No statistically significant differences in the age,sex,classification,concurrent hypertension,concurrent diabetes,active smoking,maximum diameter of false lumen,viscera artery supplied by the false lumen,etc.existed between each other among the 5 groups (P＞0.05).The operation time of group A and group B was (3.29±0.61) hours and (2.87±0.37) respectively (P＜0.05),while the operation time of group C,group D and group E was (1.80±0.62) hours (1.74±0.34) hours and (1.52±0.39) hours respectively (P＞0.05).The operation time of group A and group B was significantly longer than that of group C,D,and E (P＜0.001).The difference in the occurrence of complications was not statistically significant between each other among the 5 groups (P＞0.05).The hospitalization time was gradually shortened from group A to group E,although the difference was not statistically significant (P＞0.05).The surgeries of 28 patients in group A and group B were completed within 2 years and 6.2 years respectively,with an operation frequency being 3.3 patients per year and 7 patients per year respectively;while the surgeries of 42 patients in group C,group D and group E were completed within 2.2 years,1.2 years and 0.5 years respectively,with an operation frequency being 6.4 patients per year,11.7 patients per year and 17.5 patients per year respectively.Conclusion The learning curve of performing TEVAR for type B aortic dissection is approximately 28 cases;after completing 28 TEVAR procedures for type B aortic dissection at the yearly frequency of 4.6 cases by one interventional radiologist,the operation time becomes significantly shortened,and the surgical skills of theinterventional physician team can been significantly improved.
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Objective To analyse the preoperative diagnose and treatment experience of applying endovascular graft exclusion (EVGE)curing thoracic aortic dissection(AD) ,thus provide experience of diagnose and treatment for cure AD in clinical .Methods Review the clinical data ,therapeutic measures and follow‐up results of 226 AD patients .All patients were treated by EVGE ,coun‐terchecked by DSA post‐operation and reviewed .Results CTA and MRA in the diagnosis of crevasse position coincidence rate was 96 .8% and 95 .2% respectively .One case failed ,the remaining 225 cases were successfully placed graft ,success rate was 99 .6% .It showed that 93 .8% (211/225) complete disappearance of the false lumen or remarkable decrease of the endoleak was noted on the angiograms after stent implantation .No severe procedure‐related complications and death was observed .Conclusion CTA and MRA are important for us to choose appropriate routes ,can be the first choice of pre‐operation examination .EVGE is small trauma , short recovery time and effective in curing AD .
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Objective To evaluate the clinical effectiveness of interventional therapy in treating thoracic aortic dissection (TAD) . Methods A follow-up visit with 24 TAD patients had been operated in our hospital from November 2008 to March 2010. The clinical data, the therapeutic measures and the follow-up results were retrospectively analyzed. Including the remission of symptom, average day in hospital,complication,the long term survival rates and so on. Results All 24 patients have survived, the symptoms have improved instantly, the hospitalization days was 7.3 days,and no complication occurred. The 3 years survival rate was 95.8%. Conclusion Interventional therapy have advantages of treating thoracic aortic dissection with less complication,more secure and higher long term survival rates.
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Objective:To explore the key points of care for Aortic Dissecting Aneurysm patient who is undergoing an operation of endovascular exclusion.Methods:Made conclusion and analyze on the 5 cases,and to look into the satisfactory rate of the patients post-operatively.Results:The 5 cases are performed successfully,and there isn't any nursing complication occurred and the satisfactory rate of care is 100%.Conclusion:Knowledge education related to the operation,good cooperate among the operation team,consistent observation and good communication skills are the key points of a successful operation.
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The risk factors of abdominal aortic aneurysm (AAA) are old age, atherosclerosis, hypertension, smoking and family history of AAA. And the risk factors of aortic dissection are old age, atherosclerosis, hypertension and other aortic diseases such as aortic aneurysm, coarctation of aorta, aortic arteritis and bicuspid aortic valve. Although AAA and aortic dissection shares common risk factors, combination of these two disease are very uncommon. We report a case of 69-year-old female presented with chronic ascending aortic dissection combined with infrarenal AAA with a diameter of 7 cm and a case of 73-year-old-male presented with intramural hematoma of descending thoracic aorta combined with infrarenal AAA with a diameter of 6 cm.