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https://www.readbyqxmd.com/read/28901506/whole-exome-sequencing-identifies-fbn1-mutations-in-two-patients-with-early%C3%A2-onset-type-b-aortic-dissection
#1
Qian Han, Wenwen Zhang, Changjian Liu, Min Zhou, Feng Ran, Long Yi, Xitai Sun, Zhao Liu
The etiology of thoracic aortic aneurysm and dissection (TAAD) is complex and heterogeneous. Emerging evidence has demonstrated that genetic causes may be a consideration in early‑onset TAAD. Owing to overlapping clinical phenotypes and the genetic heterogeneity of TAAD, it is challenging for clinicians to make a molecular diagnosis of TAAD, particularly in those who present with non‑specific syndromic features. In order to identify the causative mutation in two young patients with acute type B aortic dissection without syndromic features, whole exome sequencing (WES) was performed in the present study...
August 31, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28868310/genes-associated-with-thoracic-aortic-aneurysm-and-dissection-an-update-and-clinical-implications
#2
REVIEW
Adam J Brownstein, Bulat A Ziganshin, Helena Kuivaniemi, Simon C Body, Allen E Bale, John A Elefteriades
Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging progressively until dissection or rupture occurs. Since the discovery almost 20 years ago that ascending TAAs are highly familial, our understanding of the genetics of thoracic aortic aneurysm and dissection (TAAD) has increased exponentially. At least 29 genes have been shown to be associated with the development of TAAD, the majority of which encode proteins involved in the extracellular matrix, smooth muscle cell contraction or metabolism, or the transforming growth factor-β signaling pathway...
February 2017: Aorta (Stamford, Conn.)
https://www.readbyqxmd.com/read/28855619/identification-of-novel-clinically-relevant-variants-in-70-southern-chinese-patients-with-thoracic-aortic-aneurysm-and-dissection-by-next-generation-sequencing
#3
Miaoxian Fang, Changjiang Yu, Siyao Chen, Weiping Xiong, Xin Li, Rong Zeng, Jian Zhuang, Ruixin Fan
Thoracic Aortic Aneurysm and Dissection (TAAD) is a life-threatening pathology and remains challenging worldwide. Up to 40% of TAAD are hereditary with complex heterogeneous genetic backgrounds. Recently, next-generation sequencing (NGS) has been successfully applied to identify genetic variants in an efficient and cost-effective manner. In our study, NGS coupled with DNA target-capture array was used to screen 11 known causative genes of TAAD in 70 patients from Southern China. All the identified variants were confirmed by Sanger sequencing...
August 30, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28797584/long-term-outcomes-of-frozen-elephant-trunk-for-type-a-aortic-dissection-in-patients-with-marfan-syndrome
#4
Wei-Guo Ma, Wei Zhang, Jun-Ming Zhu, Bulat A Ziganshin, Ai-Hua Zhi, Jun Zheng, Yong-Min Liu, John A Elefteriades, Li-Zhong Sun
OBJECTIVE: The use of the frozen elephant trunk (FET) technique for repair of type A aortic dissection (TAAD) in Marfan syndrome (MFS) is controversial. We seek to evaluate the efficacy of FET and total arch replacement (TAR) for TAAD in patients with MFS. METHODS: The early and long-term outcomes were analyzed for 106 patients with MFS (mean age, 34.5 ± 9.7 years) undergoing FET + TAR for TAAD. RESULTS: Operative mortality was 6.6% (7 of 106)...
June 16, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28747077/sandwich-technique-for-endovascular-repair-of-acute-type-a-aortic-dissection
#5
Feng Gao, Qian Zeng, Fangming Lin, Xiaohu Ge
OVERVIEW: To describe a new endovascular procedure for acute type A aortic dissection (TAAD) repair. METHODS: Between 2013 and 2016, 12 patients (average age 54±9.6 years; 10 men) with acute TAAD (mean EURO score 11.4%±3.2%, range 5-17) and unfit for surgery underwent thoracic endovascular aortic repair (TEVAR) with 2 periscope grafts to preserve blood supply to supra-aortic branches plus bypass grafting as needed. If the ascending aorta was dilated to >40 mm, sternotomy was performed to wrap the ascending aorta and reduce its diameter to accommodate the aortic stent-grafts...
July 1, 2017: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/28689951/spot-stenting-of-supra-aortic-branch-vessels-for-residual-type-a-dissection
#6
Ciro Ferrer, Raffaele Grande, Luigi Venturini, Valerio Scarano Catanzaro, Gabriele Maritati, Luca di Marzo
of this report is to describe the exclusion of the false lumen in a residual type A aortic dissection (TAAD) by the deployment of two covered stents: one in the right common carotid artery (RCCA) and one in the left subclavian artery (LSA). A 77-year-old female, already treated with ascending aorta replacement for acute TAAD, was referred to our center for a 97-mm post-dissection arch aneurysm. A computed tomography angiography (CTA) showed false lumen patency by reperfusion from secondary tears located at level of RCCA and LSA...
July 6, 2017: Annals of Vascular Surgery
https://www.readbyqxmd.com/read/28666732/a-functional-variant-of-smad4-enhances-thoracic-aortic-aneurysm-and-dissection-risk-through-promoting-smooth-muscle-cell-apoptosis-and-proteoglycan-degradation
#7
Ying Wang, Hao-Yue Huang, Guang-Liang Bian, Yun-Sheng Yu, Wen-Xue Ye, Fei Hua, Yi-Huan Chen, Zhen-Ya Shen
Recent studies indicate important roles for SMAD4 in SMCs proliferation, extracellular matrix maintenance, and blood vessel remodeling. However, the genetic effects of SMAD4 in the pathogenesis of thoracic aortic aneurysm and dissection (TAAD) are still largely unknown. Here we identified a functional variant of SMAD4 which might be involved in the pathological progression of TAAD. Five tagging SNPs of SMAD4 were genotyped in 202 TAAD cases and 400 controls using MALDI-TOF. rs12455792 CT or TT variant genotypes was associated with an significantly elevated TAAD risk (adjusted OR=1...
July 2017: EBioMedicine
https://www.readbyqxmd.com/read/28652363/vascular-disease-causing-mutation-smooth-muscle-%C3%AE-actin-r258c-dominantly-suppresses-functions-of-%C3%AE-actin-in-human-patient-fibroblasts
#8
Zhenan Liu, Audrey N Chang, Frederick Grinnell, Kathleen M Trybus, Dianna M Milewicz, James T Stull, Kristine E Kamm
The most common genetic alterations for familial thoracic aortic aneurysms and dissections (TAAD) are missense mutations in vascular smooth muscle (SM) α-actin encoded by ACTA2 We focus here on ACTA2-R258C, a recurrent mutation associated with early onset of TAAD and occlusive moyamoya-like cerebrovascular disease. Recent biochemical results with SM α-actin-R258C predicted that this variant will compromise multiple actin-dependent functions in intact cells and tissues, but a model system to measure R258C-induced effects was lacking...
July 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28619541/can-renal-resistive-index-predict-acute-kidney-injury-after-acute-type-a-aortic-dissection-repair
#9
Hai-Bo Wu, Huai Qin, Wei-Guo Ma, Hong-Lei Zhao, Jun Zheng, Jian-Rong Li, Li-Zhong Sun
BACKGROUND: This study sought to determine whether assessment of the renal resistive index (RRI) can predict the short-term reversibility of acute kidney injury (AKI) after repair of acute type A aortic dissection (TAAD). METHODS: This prospective study included 62 patients undergoing repair of acute TAAD. Doppler-based RRIs were obtained preoperatively, immediately after the surgical procedure, and 6, 24, and 48 hours postoperatively. The occurrence of AKI was evaluated daily according to Acute Kidney Injury Network criteria...
June 13, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28607871/prevention-of-surgical-site-infections-and-biofilms-pharmacokinetics-of-subcutaneous-cefazolin-and-metronidazole-in-a-tumescent-lidocaine-solution
#10
Jeffrey A Klein, Loralie J Langman
BACKGROUND: Tumescent anesthesia antibiotic delivery (TAAD) consists of subcutaneous infiltration of antibiotic(s) dissolved tumescent lidocaine anesthesia. Tumescent lidocaine anesthesia contains lidocaine (≤ 1 g/L), epinephrine (≤ 1 mg/L), sodium bicarbonate (10 mEq/L) in 0.9% saline. Our aim was to measure cefazolin and metronidazole concentrations over time in subcutaneous tumescent interstitial fluid (TISF) after TAAD, in serum after TAAD and after intravenous antibiotic delivery (IVAD)...
May 2017: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28550176/mechanical-behavior-and-matrisome-gene-expression-in-the-aneurysm-prone-thoracic-aorta-of-newborn-lysyl-oxidase-knockout-mice
#11
Marius Catalin Staiculescu, Jungsil Kim, Robert P Mecham, Jessica E Wagenseil
Mutations in lysyl oxidase (LOX) are associated with thoracic aortic aneurysm and dissection (TAAD). Mice that do not express Lox (Lox(-/-) ) die soon after birth and have 60% and 40% reductions in elastin- and collagen-specific cross-links, respectively. LOX inactivation could also change the expression of secreted factors, the structural matrix, and matrix-associated proteins that constitute the aortic matrisome. We hypothesized that absence of Lox will change the mechanical behavior of the aortic wall because of reduced elastin and collagen cross-linking and alter the expression levels of matrisome and smooth muscle cell (SMC) genes in a vascular location-specific manner...
August 1, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28523169/risk-factors-for-continuous-renal-replacement-therapy-after-surgical-repair-of-type-a-aortic-dissection
#12
Hai-Bo Wu, Wei-Guo Ma, Hong-Lei Zhao, Jun Zheng, Jian-Rong Li, Ou Liu, Li-Zhong Sun
BACKGROUND: To identify the risk factors for continuous renal replacement therapy (CRRT) following surgical repair of type A aortic dissection (TAAD) using the total arch replacement and frozen elephant trunk (TAR + FET) technique. METHODS: The study included 330 patients with TAAD repaired using TAR + FET between January 2014 and April 2015. Mean age was 47.1±10.2 years (range, 18-73 years) and 242 were male (73.3%). Univariate and multivariate analyses were used to identify the risk factors for CRRT...
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28511806/st-segment-elevation-myocardial-infarction-could-be-the-primary-presentation-of-acute-aortic-dissection
#13
Qing-Yi Zhu, Shi Tai, Liang Tang, Wen Peng, Sheng-Hua Zhou, Zhen-Guo Liu, Xin-Qun Hu
BACKGROUND: Stanford type A aortic dissection (TAAD) may lead to coronary artery occlusion and malfunction. However, TAAD manifesting as acute ST-segment elevation myocardial infarction (STEMI) has not been studied. In the present study, we reported 8 TAAD cases with STEMI as the primary presentation, and analyzed their clinical characteristics and outcome. METHODS: The records were reviewed for patients admitted to the large comprehensive university hospital for PCI due to STEMI from January 1, 2002 to January 1, 2017...
May 11, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28485317/early-kinetics-of-procalcitonin-in-predicting-surgical-outcomes-in-type-a-aortic-dissection-patients
#14
Hua Liu, Zhe Luo, Lan Liu, Xiao-Mei Yang, Ya-Min Zhuang, Ying Zhang, Guo-Wei Tu, Guo-Guang Ma, Guang-Wei Hao, Jian-Feng Luo, Ji-Li Zheng, Chun-Sheng Wang
BACKGROUND: In cardiac surgery, elevation of procalcitonin (PCT) could be observed postoperatively in the absence of any evidence of infection and also seems to be a prognostic marker. PCT levels measured in patients undergoing Type A aortic dissection (TAAD) were used to determine prognostic values for complications and surgical outcomes. METHODS: Measurements of PCT, C-reactive protein (CRP), and leukocyte count were observed in TAAD surgery patients (n = 251; average age: 49...
May 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28468950/er-stress-dependent-microparticles-derived-from-smooth-muscle-cells-promote-endothelial-dysfunction-during-thoracic-aortic-aneurysm-and-dissection
#15
Li-Xin Jia, Wen-Mei Zhang, Tao-Tao Li, Yan Liu, Chun-Mei Piao, You-Cai Ma, Yu Lu, Yuan Wang, Ting-Ting Liu, Yong-Fen Qi, Jie Du
The degeneration of vascular smooth muscle cell(s) (SMC) is one of the key features of thoracic aortic aneurysm and dissection (TAAD). We and others have shown that elevated endoplasmic reticulum (ER) stress causes SMC loss and TAAD formation, however, the mechanism of how SMC dysfunction contributes to intimal damage, leading to TAAD, remains to be explored. In the present study, in vitro assay demonstrated that elevated mechanical stretch (18% elongation, 3600 cycles/h) stimulated the ER stress response and microparticle(s) (MP) production from both SMC and endothelial cell(s) (EC) in a time-dependent manner...
June 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28449459/endovascular-repair-of-residual-intimal-tear-or-distal-new-entry-after-frozen-elephant-trunk-for-type-a-aortic-dissection
#16
Xu-Dong Pan, Bin Li, Wei-Guo Ma, Jun Zheng, Yong-Min Liu, Jun-Ming Zhu, Lian-Jun Huang, Li-Zhong Sun
BACKGROUND: In patients with type A dissection, residual dissection and new distal entry tears following the frozen elephant trunk (FET) procedure adversely affect long-term prognosis. Management include open and endovascular repair, while clinical experience is limited. We evaluate the efficacy of thoracic endovascular aortic repair (TEVAR) in management of residual intimal tear or distal new entry tear following FET in patients with type A aortic dissection (TAAD). METHODS: Between May 2003 and April 2013, we performed FET and total arch replacement for 1,003 patients with TAAD...
March 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28442660/anatomic-feasibility-of-next-generation-stent-grafts-for-the-management-of-type-a-aortic-dissection-in-japanese-patients
#17
Naoki Fujimura, Shinji Kawaguchi, Hideaki Obara, Akihiro Yoshitake, Masanori Inoue, Satoshi Otsubo, Yuko Kitagawa, Hideyuki Shimizu
BACKGROUND: The aims of the present study were to analyze the anatomical characteristics of type A aortic dissections (TAAD) in Japanese patients and evaluate the feasibility of 3 next-generation stent grafts dedicated to ascending/arch aortic lesions.Methods and Results:We analyzed 172 consecutive patients surgically treated for TAAD at 2 institutions between 2007 and 2015. Computed tomography (CT) images and operative records were used to identify the location of entry tear (ET)...
April 25, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28139901/clinical-and-genetic-characterization-of-adult-patients-presenting-with-non-syndromic-vascular-aneurysms-and-dissections
#18
Ryan S D'Souza, Dobromir Slavov, Sharon Graw, Jean Jirikowic, Emily Todd, Robert K Rogers, Matthew R Taylor
BACKGROUND: Genetic disorders affecting the arterial tree in the form of aneurysms and dissections are highly morbid conditions that strike younger persons leading to bleeding, infarction, or even death. Although clinically recognizable syndromes, notably Marfan, Ehlers Danlos, and Loeys--Dietz syndromes encompass the principal diagnosable phenotypes along the genetic vascular disorder spectrum, a substantial subset of patients cannot be adequately classified under a known diagnosis through clinical or molecular diagnostic methods...
January 31, 2017: International Angiology: a Journal of the International Union of Angiology
https://www.readbyqxmd.com/read/28067899/nitric-oxide-mediates-aortic-disease-in-mice-deficient-in-the-metalloprotease-adamts1-and-in-a-mouse-model-of-marfan-syndrome
#19
Jorge Oller, Nerea Méndez-Barbero, E Josue Ruiz, Silvia Villahoz, Marjolijn Renard, Lizet I Canelas, Ana M Briones, Rut Alberca, Noelia Lozano-Vidal, María A Hurlé, Dianna Milewicz, Arturo Evangelista, Mercedes Salaices, J Francisco Nistal, Luis Jesús Jiménez-Borreguero, Julie De Backer, Miguel R Campanero, Juan Miguel Redondo
Heritable thoracic aortic aneurysms and dissections (TAAD), including Marfan syndrome (MFS), currently lack a cure, and causative mutations have been identified for only a fraction of affected families. Here we identify the metalloproteinase ADAMTS1 and inducible nitric oxide synthase (NOS2) as therapeutic targets in individuals with TAAD. We show that Adamts1 is a major mediator of vascular homeostasis, given that genetic haploinsufficiency of Adamts1 in mice causes TAAD similar to MFS. Aortic nitric oxide and Nos2 levels were higher in Adamts1-deficient mice and in a mouse model of MFS (hereafter referred to as MFS mice), and Nos2 inactivation protected both types of mice from aortic pathology...
February 2017: Nature Medicine
https://www.readbyqxmd.com/read/28043436/endovascular-repair-of-type-a-aortic-dissection-current-experience-and-technical-considerations
#20
REVIEW
Joshua D Horton, Tilo Kölbel, Stephan Haulon, Ali Khoynezhad, Richard M Green, Michael A Borger, Firas F Mussa
Dissection of the ascending aorta, type A aortic dissection (TAAD), represents a surgical emergency with high morbidity and mortality. Current open surgical techniques, although state-of-the-art procedures and having improved outcomes for patients with TAAD over the last decades, confer significant risk of complications and death. Recently, endovascular techniques for repair of both the abdominal and thoracic aorta have gained acceptance within the vascular and cardiovascular surgical communities as a useful tool in select pathologies and patient populations...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
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