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Aortopathy

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https://www.readbyqxmd.com/read/28622940/feasibility-of-performing-non-contrast-magnetic-resonance-angiography-in-pregnant-subjects-with-familial-aortopathies
#1
William E Moody, Luke Pickup, Emma Plunkett, John Fryearson, Paul F Clift, R Katie Morris, Peter J Thompson, Sara Thorne, Lucy E Hudsmith
BACKGROUND: Pregnancy is associated with an increased risk of aortic pathology. We sought to assess the feasibility of performing non-contrast 3D steady-state free-precession (SSFP) magnetic resonance angiography (MRA) in pregnant subjects with inherited aortopathy. METHODS: Fifteen pregnant subjects (age 27±4yr) with positive genotyping for aortopathy (Marfan, Loeys-Dietz, Ehlers-Danlos) and/or a family history of aortic dissection underwent non-contrast 3D-SSFP MRA at 1...
June 2, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28616345/wrapping-of-the-ascending-aorta-revisited-is-there-any-role-left-for-conservative-treatment-of-ascending-aortic-aneurysm
#2
REVIEW
José María González-Santos, María Elena Arnáiz-García
Dilatation of the ascending aorta (AA) is a common finding in patients with aortic valve disease. The clinical practice guidelines recommend replacing the AA whenever the diameter exceeds 45 mm. However, no consensus has been reached regarding the approach when the aorta is only moderately dilated. Although the risk in aorta replacement is generally low, it may be higher when associated with other complex surgical procedures or it is carried out in elderly patients or patients with significant comorbidity. This would justify the use of alternative surgical techniques, which reduce surgical risk and guarantee a durable correction of the aortic pathology...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28616342/bicuspid-aortic-valve-syndrome-a-multidisciplinary-approach-for-a-complex-entity
#3
REVIEW
María Martín, Rebeca Lorca, José Rozado, Rubén Alvarez-Cabo, Juan Calvo, Isaac Pascual, Helena Cigarrán, Isabel Rodríguez, César Morís
Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease. It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28607545/the-genetics-of-aortopathies-in-clinical-cardiology
#4
REVIEW
Amit Goyal, Ali R Keramati, Matthew J Czarny, Jon R Resar, Arya Mani
Aortopathies pose a significant healthcare burden due to excess early mortality, increasing incidence, and underdiagnosis. Understanding the underlying genetic causes, early diagnosis, timely surveillance, prophylactic repair, and family screening are keys to addressing these diseases. Next-generation sequencing continues to expand our understanding of the genetic causes of heritable aortopathies, rapidly clarifying their underlying molecular pathophysiology and suggesting new potential therapeutic targets...
2017: Clinical Medicine Insights. Cardiology
https://www.readbyqxmd.com/read/28584589/computerized-tomography-use-in-williams-beuren-syndrome-aortopathy
#5
Neale Nicola Kalis, Leena Khalifa Sulaibikh, Saud Rashid Al Amer, Haya Yousif Al Amer
Williams-Beuren syndrome is a multisystem genetic disorder caused by hemizygous deletion on chromosome 7q11.23, encompassing about 28 genes including the elastin gene, ELN. Cardiovascular abnormalities are frequent and are related to elastin insufficiency. These abnormalities include supravalvular aortic stenosis (SVAS) in 70% of case, pulmonic valve stenosis, and renal artery stenosis. Definitive therapy for supravalvar aortic stenosis consists of surgical correction of the arteriopathies. Outcomes after surgical correction of SVAS depend on the extent of the arteriopathy and the presence of other associated lesions...
January 2017: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/28544830/assessment-of-contributors-of-aortopathy-and-subclinical-left-ventricular-dysfunction-in-normally-functioning-bicuspid-aortic-valves
#6
Kamil Tuluce, Selcen Yakar Tuluce, Ersin Cagri Simsek, Serdar Bayata, Cem Nazli
BACKGROUND: Left ventricular (LV) function and the dimensions of aortic valves from normally functioning bicuspid aortic valve (BAV) patients were compared with those of healthy control patients. A comparison between patients with antero-posterior BAV (BAV-AP) or right-left BAV (BAV-RL) was also performed, and the determinants of aortopathy and LV function were investigated. METHODS: Sixty-eight patients with aortic velocities <2 m/s and trivial or mild aortic regurgitation were included in the study...
January 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28541271/protein-altering-and-regulatory-genetic-variants-near-gata4-implicated-in-bicuspid-aortic-valve
#7
Bo Yang, Wei Zhou, Jiao Jiao, Jonas B Nielsen, Michael R Mathis, Mahyar Heydarpour, Guillaume Lettre, Lasse Folkersen, Siddharth Prakash, Claudia Schurmann, Lars Fritsche, Gregory A Farnum, Maoxuan Lin, Mohammad Othman, Whitney Hornsby, Anisa Driscoll, Alexandra Levasseur, Marc Thomas, Linda Farhat, Marie-Pierre Dubé, Eric M Isselbacher, Anders Franco-Cereceda, Dong-Chuan Guo, Erwin P Bottinger, G Michael Deeb, Anna Booher, Sachin Kheterpal, Y Eugene Chen, Hyun Min Kang, Jacob Kitzman, Heather J Cordell, Bernard D Keavney, Judith A Goodship, Santhi K Ganesh, Gonçalo Abecasis, Kim A Eagle, Alan P Boyle, Ruth J F Loos, Per Eriksson, Jean-Claude Tardif, Chad M Brummett, Dianna M Milewicz, Simon C Body, Cristen J Willer
Bicuspid aortic valve (BAV) is a heritable congenital heart defect and an important risk factor for valvulopathy and aortopathy. Here we report a genome-wide association scan of 466 BAV cases and 4,660 age, sex and ethnicity-matched controls with replication in up to 1,326 cases and 8,103 controls. We identify association with a noncoding variant 151 kb from the gene encoding the cardiac-specific transcription factor, GATA4, and near-significance for p.Ser377Gly in GATA4. GATA4 was interrupted by CRISPR-Cas9 in induced pluripotent stem cells from healthy donors...
May 25, 2017: Nature Communications
https://www.readbyqxmd.com/read/28514465/bicuspid-aortopathy-reply
#8
Victoria Delgado, William K F Kong, Jeroen J Bax
No abstract text is available yet for this article.
May 17, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28511923/igg4-aortopathy-an-underappreciated-cause-of-non-infectious-thoracic-aortitis
#9
Victor Aguirre, Catherine Connolly, Robert Stuklis
IgG4 related thoracic aortitis is a recent addition to the differential diagnosis for inflammatory aortic disease - a condition which is often underappreciated until complications arise such as aneurysmal formation or aortic dissection. Currently, IgG4 aortitis remains a post-surgical diagnosis reliant on positive immunohistochemistry findings. Management is guided by the extent of disease involvement, which can be gauged by serum IgG4 levels and radiological findings. Options include surgical resection, corticosteroid therapy and steroid-sparing agents to prevent relapses...
April 19, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28501375/transthoracic-echocardiography-versus-computed-tomography-for-ascending-aortic-measurements-in-patients-with-bicuspid-aortic%C3%A2-valve
#10
Jae Yoon Park, Thomas A Foley, Crystal R Bonnichsen, Matthew J Maurer, Krista M Goergen, Vuyisile T Nkomo, Maurice Enriquez-Sarano, Eric E Williamson, Hector I Michelena
BACKGROUND: Ascending aorta dilatation is common in bicuspid aortic valve (BAV). The aim of this study was to investigate agreement of transthoracic echocardiographic (TTE) measurement of the sinuses of Valsalva and the tubular mid-ascending aorta (Asc-Ao) compared with electrocardiographically gated computed tomographic angiographic (CTA) assessment in patients with BAV. METHODS: Fifty-three patients with BAV (mean age, 54 ± 14 years; 74% men) who underwent both TTE and CTA imaging for ascending aortic assessment were retrospectively identified...
May 10, 2017: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/28495059/bicuspid-aortic-valve-aortopathy-is-not-cancer
#11
EDITORIAL
Thoralf M Sundt
No abstract text is available yet for this article.
April 7, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28488567/aortic-graft-at-coronary-artery-bypass-surgery-as-a-source-of-human-aortic-smooth-muscle-cells
#12
Daria Kostina, Dmitry Zverev, Mikhail Gordeev, Elena Ignatieva, Irina Voronkina, Anna Kostareva, Anna Malashicheva
One of serious obstacles of the aortopathies research is a considerable shortage of human aortic smooth muscle cells (SMC), which can be used to model the disease. SMC in most cases come from the whole aorta of transplant donors, which are rather difficult to access. In the course of coronary artery bypass graft (CABG) surgery a fragment of aortic tissue is excised to make a bypass root. In this study we show a possibility to use CABG leftover fragments of thoracic aorta as a source of human SMC for in vitro research...
May 9, 2017: Cell Transplantation
https://www.readbyqxmd.com/read/28433350/open-repair-of-chronic-thoracic-and-thoracoabdominal-aortic-dissection-using-deep-hypothermia-and-circulatory-arrest
#13
Joel Corvera, Hannah Copeland, David Blitzer, Adam Hicks, Joshua Manghelli, Philip Hess, John Fehrenbacher
BACKGROUND: Chronic dissection of the thoracic and thoracoabdominal aorta as sequela of a prior type A or B dissection is a challenging problem that requires close radiographic surveillance and prompt operative intervention in the presence of symptoms or aneurysm formation. Open repair of chronic thoracic and thoracoabdominal aortic dissection using deep hypothermia has been our preferred method to treat this complex pathology. The advantages of this technique include organ and spinal cord protection, the flexibility to extend the repair proximally into the arch, and the ability to limit ischemia to all vascular beds...
March 18, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28420669/a-possible-early-biomarker-for-bicuspid-aortopathy-circulating-transforming-growth-factor-beta-1-to-soluble-endoglin-ratio
#14
Amalia Forte, Ciro Bancone, Gilda Cobellis, Marianna Buonocore, Giuseppe Santarpino, Theodor Fischlein, Marilena Cipollaro, Marisa De Feo, Alessandro Della Corte
Rationale: The pathogenesis of bicuspid aortic valve (BAV)-associated aortopathy is poorly understood and no prognostic biomarker is currently available. Objective: We aimed to identify putative circulating biomarkers pathogenetically and prognostically linked to bicuspid aortopathy. Methods and Results: By RT-PCR, we evaluated gene expression variations (versus normal aorta) of transforming growth factor-beta1 (TGF-β1), connective tissue growth factor (CTGF), matrix metalloproteinase-2 (MMP-2), MMP-14, endoglin (ENG) and superoxide dismutase 3 (SOD3) in ascending aorta samples from 50 tricuspid and 70 BAV patients undergoing surgery for aortic stenosis (aorta diameter ≤45mm: BAVnon-dil or >45mm: BAVdil)...
April 18, 2017: Circulation Research
https://www.readbyqxmd.com/read/28387797/genetic-abnormalities-in-bicuspid-aortic-valve-root-phenotype-preliminary-results%C3%A2
#15
Evaldas Girdauskas, Lisa Geist, Kushtrim Disha, Iliaz Kazakbaev, Tatiana Groß, Solveig Schulz, Martin Ungelenk, Thomas Kuntze, Hermann Reichenspurner, Ingo Kurth
OBJECTIVES: Genetic defects associated with bicuspid aortopathy have been infrequently analysed. Our goal was to examine the prevalence of rare genetic variants in patients with a bicuspid aortic valve (BAV) with a root phenotype using next-generation sequencing technology. METHODS: We investigated a total of 124 patients with BAV with a root dilatation phenotype who underwent aortic valve ± proximal aortic surgery at a single institution (BAV database, n  = 812) during a 20-year period (1995-2015)...
April 6, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28381694/aortopathy-in-an-adult-with-tricuspid-atresia-and-left-ventricular-non-compaction-after-fontan-procedure
#16
Tomotaka Murakami, Yoshiki Mori, Nao Inoue, Sachie Kaneko, Yasumi Nakashima
No abstract text is available yet for this article.
April 5, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28377231/prevalence-and-impact-of-coexistent-bicuspid-aortic-valve-in-hypertrophic-cardiomyopathy
#17
Ratnasari Padang, Bernard J Gersh, Steve R Ommen, Jeffrey B Geske
BACKGROUND: The association between bicuspid aortic valve (BAV) and hypertrophic cardiomyopathy (HCM) has been reported but its true prevalence is unknown. This study investigated the prevalence and clinical impact of coexistent BAV in a large referral HCM population. METHODS: Retrospective analysis of 3765 echocardiograms between 2004 and 2014 in 2640 consecutive patients with HCM was performed to assess for BAV. Patients with coexistent conditions were studied...
March 8, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28366467/aortic-root-replacement-for-children-with-loeys-dietz-syndrome
#18
Nishant D Patel, Diane Alejo, Todd Crawford, Narutoshi Hibino, Harry C Dietz, Duke E Cameron, Luca A Vricella
BACKGROUND: Loeys-Dietz syndrome (LDS) is an aggressive aortopathy with a proclivity for aortic aneurysm rupture and dissection at smaller diameters than other connective tissue disorders. We reviewed our surgical experience of children with LDS to validate our guidelines for prophylactic aortic root replacement (ARR). METHODS: We reviewed all children (younger than 18 years) with a diagnosis of LDS who underwent ARR at our institution. The primary endpoint was mortality, and secondary endpoints included complications and the need for further interventions...
May 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28356339/nicotinamide-phosphoribosyltransferase-in-smooth-muscle-cells-maintains-genome-integrity-resists-aortic-medial-degeneration-and-is-suppressed-in-human-thoracic-aortic-aneurysm-disease
#19
Alanna Watson, Zengxuan Nong, Hao Yin, Caroline O'Neil, Stephanie Fox, Brittany Balint, Linrui Guo, Oberdan Leo, Michael W A Chu, Robert Gros, J Geoffrey Pickering
RATIONALE: The thoracic aortic wall can degenerate over time with catastrophic consequences. Vascular smooth muscle cells (SMCs) can resist and repair artery damage, but their capacities decline with age and stress. Recently, cellular production of nicotinamide adenine dinucleotide (NAD(+)) via nicotinamide phosphoribosyltransferase (Nampt) has emerged as a mediator of cell vitality. However, a role for Nampt in aortic SMCs in vivo is unknown. OBJECTIVES: To determine whether a Nampt-NAD(+) control system exists within the aortic media and is required for aortic health...
June 9, 2017: Circulation Research
https://www.readbyqxmd.com/read/28347539/a-novel-murine-model-of-marfan-syndrome-accelerates-aortopathy-and-cardiomyopathy
#20
Nicholas B Cavanaugh, Lan Qian, Nicole M Westergaard, William J Kutschke, Ella J Born, Joseph W Turek
BACKGROUND: Marfan syndrome (MFS) represents a genetic disorder with variable phenotypic expression. The main cardiovascular sequelae of MFS include aortic aneurysm/dissection and cardiomyopathy. Although significant advances in the understanding of transforming growth factor beta signaling have led to promising therapeutic targets for the treatment of aortopathy, clinical studies have tempered this optimism. In particular, these studies suggest additional signaling pathways that play a significant role in disease progression...
March 24, 2017: Annals of Thoracic Surgery
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