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https://www.readbyqxmd.com/read/29049801/search-for-genetic-factors-in-bicuspid-aortic-valve-disease-acta2-mutations-do-not-play-a-major-role
#1
Giada Tortora, Anita Wischmeijer, Paolo Berretta, Jacopo Alfonsi, Luca Di Marco, Andrea Barbieri, Caterina Marconi, Federica Isidori, Cesare Rossi, Ornella Leone, Roberto Di Bartolomeo, Marco Seri, Davide Pacini
OBJECTIVES: Mutations in ACTA2 have been reported as a cause of familiar thoracic aortic aneurysm (TAA) with associated bicuspid aortic valve (BAV) in some individuals. Our aim is to investigate the role of ACTA2 mutations in BAV associated with TAA in 20 patients. METHODS: We recruited 20 patients who underwent surgery for BAV and TAA; clinical genetic evaluation and ACTA2 mutation analysis were performed on each patient, along with next-generation sequencing analysis of BAV-related genes...
July 27, 2017: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29042101/machine-learning-phenotypic-classification-of-bicuspid-aortopathy
#2
Charles M Wojnarski, Eric E Roselli, Jay J Idrees, Yuanjia Zhu, Theresa A Carnes, Ashley M Lowry, Patrick H Collier, Brian Griffin, John Ehrlinger, Eugene H Blackstone, Lars G Svensson, Bruce W Lytle
BACKGROUND: Bicuspid aortic valves (BAV) are associated with incompletely characterized aortopathy. Our objectives were to identify distinct patterns of aortopathy using machine-learning methods and characterize their association with valve morphology and patient characteristics. METHODS: We analyzed preoperative 3-dimensional computed tomography reconstructions for 656 patients with BAV undergoing ascending aorta surgery between January 2002 and January 2014. Unsupervised partitioning around medoids was used to cluster aortic dimensions...
September 14, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29033042/ascending-aortopathy-with-bicuspid-aortic-valve-individualizing-the-threshold
#3
EDITORIAL
Vincent R Conti, Abe DeAnda
No abstract text is available yet for this article.
September 22, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29029058/inter-ethnic-differences-in-valve-morphology-valvular-dysfunction-and-aortopathy-between-asian-and-european-patients-with-bicuspid-aortic-valve
#4
William K F Kong, Madelien V Regeer, Kian K Poh, James W Yip, Philippe J van Rosendael, Tiong C Yeo, Edgar Tay, Vasileios Kamperidis, Enno T van der Velde, Bart Mertens, Nina Ajmone Marsan, Victoria Delgado, Jeroen J Bax
Background: Transcatheter aortic valve replacement (TAVR) has been shown safe and feasible in patients with bicuspid aortic valve (BAV) morphology. Evaluation of inter-ethnic differences in valve morphology and function and aortic root dimensions in patients with BAV is important for the worldwide spread of this therapy in this subgroup of patients. Comparisons between large European and Asian cohorts of patients with BAV have not been performed, and potential differences between populations may have important implications for TAVR...
October 6, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28993736/pathogenic-mechanisms-of-bicuspid-aortic-valve-aortopathy
#5
REVIEW
Noor M Yassine, Jasmine T Shahram, Simon C Body
Bicuspid aortic valve (BAV) is the most common congenital valvular defect and is associated with ascending aortic dilation (AAD) in a quarter of patients. AAD has been ascribed both to the hemodynamic consequences of normally functioning and abnormal BAV morphology, and to the effect of rare and common genetic variation upon function of the ascending aortic media. AAD manifests in two overall and sometimes overlapping phenotypes: that of aortic root aneurysm, similar to the AAD of Marfan syndrome; and that of tubular AAD, similar to the AAD seen with tricuspid aortic valves (TAVs)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28990148/athletes-and-the-aorta-normal-adaptations-and-the-diagnosis-and-management-of-pathology
#6
REVIEW
J Stephen Hedley, Dermot Phelan
Over a hundred years ago, physicians first recognized that participation in regular, vigorous training resulted in enlargement of the heart. Since that time, the term "athlete's heart" has entered the medical lexicon as a global expression encompassing the electrical, functional, and morphological adaptations that develop in response to physical training. Exercise-induced adaptations of the aorta, which is also exposed to large hemodynamic stresses during prolonged endurance exercise or resistance training, are less well recognized...
October 9, 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28986100/reduced-shear-stress-and-associated-aortic-deformation-in-the-thoracic-aorta-of-patients-with-chronic-obstructive-pulmonary-disease
#7
Michal Schäfer, Vitaly O Kheyfets, Alex J Barker, Kurt Stenmark, Kendall S Hunter, P Mason McClatchey, J Kern Buckner, T Brett Reece, Omid Jazaeri, Brett E Fenster
OBJECTIVE: Central aortic stiffness and chronic obstructive pulmonary disease (COPD) are associated with increased incidence of devastating aortopathies. However, the exact mechanism leading to elevated aortic stiffness in patients with COPD is unknown. The purpose of this study was to quantify flow and shear hemodynamic indices, known markers of vascular remodeling, in the thoracic aorta of patients with mild to moderate COPD (n = 16) and to compare these results with an age-matched control group (n = 10)...
October 3, 2017: Journal of Vascular Surgery
https://www.readbyqxmd.com/read/28970802/characteristics-of-carotid-artery-structure-and-mechanical-function-and-their-relationships-with-aortopathy-in-patients-with-bicuspid-aortic-valves
#8
Mihyun Kim, Chi Young Shim, Seong-Chan You, In-Jeong Cho, Geu-Ru Hong, Jong-Won Ha, Namsik Chung
Patients with a bicuspid aortic valve (BAV) often have proximal aortic dilatation and systemic vascular dysfunction. We hypothesized that BAV patients would have different carotid artery structural and functional characteristics compared to tricuspid aortic valve (TAV) patients. In 28 patients with surgically confirmed BAV and 27 patients with TAV, intima media thickness (IMT), number of plaques, fractional area change (FAC), global circumferential strain (GCS), and standard deviation of CS (SD-CS) in both common carotid arteries were assessed using duplex ultrasound and velocity vector imaging (VVI)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28960491/aortic-root-replacement-for-bicuspid-aortopathy-following-heart-transplantation
#9
Elizabeth H Stephens, Shinichi Fukuhara, Robert C Neely, Hiroo Takayama
Although donors with well-functioning bicuspid aortic valves (BAV) are not a contraindication for transplantation, BAV patients are at risk for long-term aortopathy and valve dysfunction. We report a case of a patient status-post heart transplant 13 years ago who presented to our institution with a BAV and severe aortic regurgitation associated with an aortic root aneurysm and underwent aortic root replacement.
September 27, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28948327/abnormal-longitudinal-growth-of-the-aorta-in-children-with-familial-bicuspid-aortic-valve
#10
Holly Nadorlik, Jessica L Bowman, Sara Fitzgerald-Butt, May Ling Mah, Kim L McBride, John P Kovalchin, Vidu Garg
Bicuspid aortic valve (BAV) is the most common type of congenital heart defect (CHD) and is associated with clinically significant cardiovascular complications including valve calcification and ascending aortopathy (AscAo), predominantly occurring in adulthood. While a limited number of genetic etiologies for BAV have been defined, family members of affected individuals display BAV along with other left-sided CHD. This has led to guidelines from the American Heart Association and American College of Cardiology that recommend echocardiographic screening of first-degree relatives of affected adults...
September 25, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28941062/a-cohort-study-of-multiple-families-with-fbn1-p-r650c-variant-ectopia-lentis-and-low-but-not-absent-risk-for-aortopathy
#11
Lohith Vatti, Sara M Fitzgerald-Butt, Kim L McBride
Marfan syndrome is a multisystem disease with cardiovascular, ophthalmologic, and skeletal features. Diagnosis is made clinically with emphasis on presence of aortic root dilation and ectopia lentis (EL). Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or observed rarely. Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. We identified a unique cohort of 31 individuals (mean age 29, range 2-78) from nine families ascertained by a proband with EL alone, who had the same FBN1 p...
September 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28931124/bicuspid-aortopathy-the-show-must-go-on
#12
María Martín, Rebeca Lorca, César Morís
No abstract text is available yet for this article.
September 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28903936/aortic-valve-stenosis-alters-expression-of-regional-aortic-wall-shear-stress-new-insights-from-a-4-dimensional-flow-magnetic-resonance-imaging-study-of-571-subjects
#13
Pim van Ooij, Michael Markl, Jeremy D Collins, James C Carr, Cynthia Rigsby, Robert O Bonow, S Chris Malaisrie, Patrick M McCarthy, Paul W M Fedak, Alex J Barker
BACKGROUND: Wall shear stress (WSS) is a stimulus for vessel wall remodeling. Differences in ascending aorta (AAo) hemodynamics have been reported between bicuspid aortic valve (BAV) and tricuspid aortic valve patients with aortic dilatation, but the confounding impact of aortic valve stenosis (AS) is unknown. METHODS AND RESULTS: Five hundred seventy-one subjects underwent 4-dimensional flow magnetic resonance imaging in the thoracic aorta (210 right-left BAV cusp fusions, 60 right-noncoronary BAV cusp fusions, 245 tricuspid aortic valve patients with aortic dilatation, and 56 healthy controls)...
September 13, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28883797/genetic-bases-of-bicuspid-aortic-valve-the-contribution-of-traditional-and-high-throughput-sequencing-approaches-on-research-and-diagnosis
#14
REVIEW
Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28874282/smad4-gene-mutation-increases-the-risk-of-aortic-dilation-in-patients-with-hereditary-haemorrhagic-telangiectasia
#15
V M M Vorselaars, A Diederik, V Prabhudesai, S Velthuis, J-A Vos, R J Snijder, C J J Westermann, B J Mulder, J K Ploos van Amstel, J J Mager, M E Faughnan, M C Post
BACKGROUND: Mutations in the genes ENG, ACVRL1 and SMAD4 that are part of the transforming growth factor-beta signalling pathway cause hereditary haemorrhagic telangiectasia (HHT). Mutations in non-HHT genes within this same pathway have been found to associate with aortic dilation. Therefore, we investigated the presence of aortic dilation in a large cohort of HHT patients as compared to non-HHT controls. METHODS: Chest computed tomography of consecutive HHT patients (ENG, ACVRL1 and SMAD4 mutation carriers) and non-HHT controls were reviewed...
October 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28856517/bicuspid-aortic-valve-related-aortopathy
#16
REVIEW
Sina Stock, Salah A Mohamed, Hans-Hinrich Sievers
Bicuspid aortic valve related aortopathy is known to significantly increase the risk for catastrophic aortic events and, therefore, represents a considerable health burden. Albeit of ongoing research in this field including genetic, molecular, hemodynamic and morphologic aspects, bicuspid aortic valve related aortopathy still represents an imperfectly understood disorder. This lack in knowledge results in a lack of consistency considering different therapeutic approaches. Recent studies have provided new insights into the etiology and clinical impacts of bicuspid aortic valve related aortopathy in different clinical settings, leading to a growing body of opinion towards a more individualized surgical approach than currently provided by the guidelines...
August 30, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28802510/aortic-dilatation-associated-with-bicuspid-aortic-valve-relation-to-sex-hemodynamics-and-valve-morphology-the-national-heart-lung-and-blood-institute-sponsored-national-registry-of-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions
#17
MULTICENTER STUDY
Mary J Roman, Norma L Pugh, Richard B Devereux, Kim A Eagle, Kathryn Holmes, Scott A LeMaire, Rita K Milewski, Shaine A Morris, Siddharth K Prakash, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Howard K Song, Federico M Asch
This study analyzed the impact of sex, hemodynamic profile, and valve fusion pattern on aortopathy associated with bicuspid aortic valve (BAV). The National Heart Lung and Blood Institute-sponsored National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) provided comprehensive information on a large population of well-characterized patients with BAV. Of 969 enrolled patients with BAV, 551 (57%, 77% male) had already undergone valvular and/or aortic surgery...
October 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28795978/update-on-bicuspid-aortic-valve-aortopathy
#18
Evaldas Girdauskas, Johannes Petersen
PURPOSE OF REVIEW: The appropriate treatment of bicuspid aortic valve (BAV)-associated aortopathy is still controversial. We aimed to summarize recent evidence from the literature that focused on the prediction of aortopathy progression and adverse aortic events. RECENT FINDINGS: Following the detailed description of valvulo-aortic phenotypes in BAV disease in the previous imaging studies, the most current research focused on the definition of hemodynamic markers that may affect the progression of BAV-associated aortopathy and search for blood-born biomarkers to improve the prediction of adverse aortic events...
November 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28790933/mechanisms-of-smooth-muscle-cell-differentiation-are-distinctly-altered-in-thoracic-aortic-aneurysms-associated-with-bicuspid-or-tricuspid-aortic-valves
#19
Elena Ignatieva, Daria Kostina, Olga Irtyuga, Vladimir Uspensky, Alexey Golovkin, Natalia Gavriliuk, Olga Moiseeva, Anna Kostareva, Anna Malashicheva
Cellular and molecular mechanisms of thoracic aortic aneurysm are not clear and therapeutic approaches are mostly absent. Thoracic aortic aneurysm is associated with defective differentiation of smooth muscle cells (SMC) of aortic wall. Bicuspid aortic valve (BAV) comparing to tricuspid aortic valve (TAV) significantly predisposes to a risk of thoracic aortic aneurysms. It has been suggested recently that BAV-associated aortopathies represent a separate pathology comparing to TAV-associated dilations. The only proven candidate gene that has been associated with BAV remains NOTCH1...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28780662/bicuspid-aortic-valvulopathy-and-associated-aortopathy-a-review-of-contemporary-studies-relevant-to-clinical-decision-making
#20
REVIEW
Michael H Kwon, Thoralf M Sundt
The bicuspid aortic valve (BAV) phenotype is becoming increasingly recognized as a complex and heterogeneous clinical entity, with some but not all patients developing accelerated degrees of both aortic insufficiency (AI) and aortic stenosis (AS) in comparison to patients with tricuspid aortic valves (TAV). In addition, there remains a well-established association between the BAV phenotype and aortic enlargement independent of valve function as well as progression among some to ascending aortic aneurysm and the attendant concern over risk of aortic dissection...
September 2017: Current Treatment Options in Cardiovascular Medicine
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