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https://www.readbyqxmd.com/read/28102444/patients-with-bicuspid-and-tricuspid-aortic-valve-exhibit-distinct-regional-microrna-signatures-in-mildly-dilated-ascending-aorta
#1
Sebastian Albinsson, Alessandro Della Corte, Azra Alajbegovic, Katarzyna K Krawczyk, Ciro Bancone, Umberto Galderisi, Marilena Cipollaro, Marisa De Feo, Amalia Forte
MicroRNAs are able to modulate gene expression in a range of diseases. We focused on microRNAs as potential contributors to the pathogenesis of ascending aorta (AA) dilatation in patients with stenotic tricuspid (TAV) or bicuspid aortic valve (BAV). Aortic specimens were collected from the 'concavity' and the 'convexity' of mildly dilated AAs and of normal AAs from heart transplant donors. Aortic RNA was analyzed through PCR arrays, profiling the expression of 84 microRNAs involved in cardiovascular disease...
January 19, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28102232/aetiology-and-management-of-hereditary-aortopathy
#2
REVIEW
Aline Verstraeten, Ilse Luyckx, Bart Loeys
Aortic aneurysms are a major health problem because they account for 1-2% of all deaths in the Western population. Although abdominal aortic aneurysms (AAAs) are more prevalent than thoracic aortic aneurysms (TAAs), TAAs have been more exhaustively studied over the past 2 decades because they have a higher heritability and affect younger individuals. Gene identification in both syndromic and nonsyndromic TAA is proceeding at a rapid pace and has already pinpointed >20 genes associated with familial TAA risk...
January 19, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28099082/therapeutics-targeting-drivers-of-thoracic-aortic-aneurysms-and-acute-aortic-dissections-insights-from-predisposing-genes-and-mouse-models
#3
Dianna M Milewicz, Siddharth K Prakash, Francesco Ramirez
Thoracic aortic diseases, including aneurysms and dissections of the thoracic aorta, are a major cause of morbidity and mortality. Risk factors for thoracic aortic disease include increased hemodynamic forces on the ascending aorta, typically due to poorly controlled hypertension, and heritable genetic variants. The altered genes predisposing to thoracic aortic disease either disrupt smooth muscle cell (SMC) contraction or adherence to an impaired extracellular matrix, or decrease canonical transforming growth factor beta (TGF-β) signaling...
January 14, 2017: Annual Review of Medicine
https://www.readbyqxmd.com/read/28065612/vertebral-tortuosity-index-in-patients-with-non-connective-tissue-disorder-related-aneurysm-disease
#4
F Virgilio, B Maurel, M Davis, G Hamilton, T M Mastracci
OBJECTIVE: The vertebral tortuosity index (VTI) predicts increased risk of acute aortic events in patients with known genetic aortopathies. This study describes the VTI in a cohort of patients with non-connective tissue disorder-related large aneurysms. METHODS: Hospital imaging records from July 2012 to March 2016 were interrogated to identify patients with aneurysmal disease who had undergone computed tomographic angiography that included imaging of vertebral arteries...
January 5, 2017: European Journal of Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/28060855/determinants-and-prognostic-significance-of-symptomatic-status-in-patients-with-moderately-dysfunctional-bicuspid-aortic-valves
#5
Soo Youn Lee, Chi Young Shim, Geu-Ru Hong, In Jeong Cho, Hyuk-Jae Chang, Jong-Won Ha, Namsik Chung
BACKGROUND: We aimed to identify the clinical and echocardiographic determinants of symptoms and their prognostic implications in patients with moderately dysfunctional bicuspid aortic valves (BAVs). METHODS: Among 1,019 subjects in the BAV registry treated in a single tertiary care center, the records of 127 patients (85 men, age 58±13 years) with moderately dysfunctional BAVs were comprehensively reviewed. The patients were divided into two groups based on symptom status: asymptomatic (n = 80) vs...
2017: PloS One
https://www.readbyqxmd.com/read/28052146/prognostic-implications-of-raphe-in-bicuspid-aortic-valve-anatomy
#6
William K F Kong, Victoria Delgado, Kian Keong Poh, Madelien V Regeer, Arnold C T Ng, Louise McCormack, Tiong Cheng Yeo, Miriam Shanks, Sarah Parent, Roxana Enache, Bogdan A Popescu, Michael Liang, James W Yip, Lawrence C W Ma, Vasileios Kamperidis, Philippe J van Rosendael, Enno T van der Velde, Nina Ajmone Marsan, Jeroen J Bax
Importance: Little is known about the association between bicuspid aortic valve (BAV) morphologic findings and the degree of valvular dysfunction, presence of aortopathy, and complications, including aortic valve surgery, aortic dissection, and all-cause mortality. Objective: To investigate the association between BAV morphologic findings (raphe vs nonraphe) and the degree of valve dysfunction, presence of aortopathy, and prognosis (including need for aortic valve surgery, aortic dissection, and all-cause mortality)...
January 4, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28035354/identification-of-a-missense-mutation-of-col3a1-in-a-chinese-family-with-atypical-ehlers-danlos-syndrome-using-targeted-next-generation-sequencing
#7
Wenwen Zhang, Qian Han, Min Zhou, Feng Ran, Tong Qiao, Long Yi, Changjian Liu, Zhao Liu
Aortopathy represents an important cause of mortality in industrialized countries, with a number of genes identified as predispose factors. It can be difficult to identify the genetic lesions underlying this disorder, particularly when the phenotype is atypical. The present study performed targeted next‑generation sequencing of 428 genes associated with cardiovascular diseases in a family with aortopathy, the proband of which presented with abdominal aortic aneurysm rupture only, with tissue fragility noted in surgery...
February 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27989036/ascending-aortic-stiffness-with-bicuspid-aortic-valve-is-variable-and-not-predicted-by-conventional-parameters-in-young-patients
#8
Nicholas S Burris, Petter Dyverfeldt, Michael D Hope
BACKGROUND: Bicuspid aortic valve (BAV)-related aortopathy is characterized by histological abnormalities that result in aortic wall stiffening and aortic dilation. The study aim was to determine the range of ascending aortic stiffness seen in a clinical cohort of patients with BAV, and to identify the association of aortic stiffness with standard clinical and imaging parameters. METHODS: Patients with BAV (n = 65) and normal subjects (n = 10) were studied using conventional phase-contrast magnetic resonance imaging through the ascending aorta...
May 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/27989035/aortopathy-in-bicuspid-aortic-valve-stenosis-with-fusion-of-right-left-versus-right-non-coronary-cusps-are-these-different-diseases
#9
Evaldas Girdauskas, Mina Rouman, Kushtrim Disha, Georg Dubslaff, Beatrix Fey, Bernhard Theis, Iver Petersen, Michael A Borger, Yskert von Kodolitsch, Thomas Kuntze, Hermann Reichenspurner
BACKGROUND: The study aim was to prospectively analyze the impact of cusp fusion pattern on aortopathy severity in patients undergoing surgery for bicuspid aortic valve (BAV) stenosis. METHODS: A total of 137 consecutive patients with BAV stenosis (93 males, 44 females; mean age 61 ± 9 years) underwent aortic valve replacement with or without concomitant aortic surgery between January 2012 and March 2015. All patients underwent preoperative cardiac magnetic resonance imaging (cMRI) in order to evaluate morphological/functional parameters of the aortic root...
May 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/27986258/ascending-aortopathy-with-bicuspid-aortic-valve-more-but-not-enough-evidence-for-the-hemodynamic-theory
#10
EDITORIAL
William M DeCampli
No abstract text is available yet for this article.
January 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27965921/clinical-implication-of-aortic-wall-biopsy-in-aortic-valve-disease-with-bicuspid-valve-pathology
#11
Yong Han Kim, Ji Seong Kim, Jae-Woong Choi, Hyoung Woo Chang, Kwon Joong Na, Jun Sung Kim, Kyung-Hwan Kim
BACKGROUND: Although unique aortic pathology related to bicuspid aortic valve (BAV) has been previously reported, clinical implications of BAV to aortopathy risk have yet to be investigated. We looked for potential differences in matrix protein expressions in the aortic wall in BAV patients. METHODS: Aorta specimens were obtained from 31 patients: BAV group (n=27), tricuspid aortic valve (TAV) group (n=4). The BAV group was categorized into three subgroups: left coronary sinus-right coronary sinus (R+L group; n=13, 42%), right coronary sinus-non-coronary sinus (R+N group; n=8, 26%), and anteroposterior (AP group; n=6, 19%)...
December 2016: Korean Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27955909/cardiovascular-operations-for-loeys-dietz-syndrome-intermediate-term-results
#12
Nishant D Patel, Todd Crawford, J Trent Magruder, Diane E Alejo, Narutoshi Hibino, James Black, Harry C Dietz, Luca A Vricella, Duke E Cameron
OBJECTIVES: Early experience with Loeys-Dietz syndrome (LDS) suggested an aggressive aortopathy with high risk of aneurysm dissection and rupture at young ages and at smaller aortic diameters than in other connective tissue disorders. We reviewed our experience with LDS to re-examine our indications and outcomes of surgical management. METHODS: We reviewed all patients with a diagnosis of LDS who underwent cardiovascular surgery at our institution. The primary endpoint was mortality, and secondary endpoints included postoperative complications and need for reintervention...
November 16, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27884484/ross-hybrid-arch-and-frozen-elephant-trunk-reconstruction-for-late-complications-of-bicuspid-aortic-valve-and-aortopathy
#13
Matthew Valdis, Gaetano DeRose, Linrui Guo, Michael W A Chu
Young patients with bicuspid aortic valve disease and aortopathy remain a clinical challenge, with many requiring multiple corrective operations throughout their lifetimes. Innovative surgical approaches are often required to address complex aortic pathologic conditions but leave patients at risk for reintervention, lifelong anticoagulation, and suboptimal hemodynamics. We describe an active 44-year-old female triathlete with recurrent bicuspid aortic stenosis, a small aortic root, a hypoplastic aortic arch and complex distal arch, and a descending aortic aneurysm, who underwent a single-stage reconstruction with a combined Ross procedure, hybrid arch, and frozen elephant trunk reconstruction...
December 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27882423/cardio-ankle-vascular-index-cavi-and-plasma-transforming-growth-factor-%C3%AE-1-tgf-%C3%AE-1-level-correlate-with-aortopathy-in-adults-with-repaired-tetralogy-of-fallot
#14
Yumi Shiina, Koichiro Niwa
It is challenging to evaluate aortopathy in congenital heart disease using conventional investigations such as brachial-ankle pulse wave velocity (baPWV). Therefore, we evaluated the cardio-ankle vascular index (CAVI), a dimension of the ascending aorta and plasma transforming growth factor-β1 (TGF-β1) level, in order to find novel noninvasive parameters of aortopathy in adults with repaired tetralogy of Fallot (TOF). Prospectively, we enrolled 42 consecutive adults with TOF (28 patients with repaired TOF were not on ARB, 8 patients with repaired TOF on ARB, 6 patients with no repair or only palliative repair) and 20 age-matched healthy controls...
November 24, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27879323/issues-and-challenges-in-diagnostic-sequencing-for-inherited-cardiac-conditions
#15
REVIEW
Roddy Walsh, Stuart A Cook
BACKGROUND: Inherited cardiac conditions are a relatively common group of Mendelian diseases associated with ill health and death, often in the young. Research into the genetic causes of these conditions has enabled confirmatory and predictive diagnostic sequencing to become an integral part of the clinical management of inherited cardiomyopathies, arrhythmias, aortopathies, and dyslipidemias. CONTENT: Currently, the principle benefit of clinical genetic testing is the cascade screening of family members of patients with a pathogenic variant, enabling targeted follow up of presymptomatic genotype-positive individuals and discharge of genotype-negative individuals to health...
January 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/27866031/aortopathy-in-adults-with-tetralogy-of-fallot-has-a-negative-impact-on-the-left-ventricle
#16
Yumi Shiina, Tomoaki Murakami, Naoto Kawamatsu, Koichiro Niwa
BACKGROUND: Aortic pressure wave reflection is significantly elevated in patients with congenital heart disease, even in children. Excessive aortic pressure wave reflection provokes cardiovascular events. AIM: To assess the influences of the enhanced pressure wave reflection on the left ventricle (LV) in adults with repaired tetralogy of Fallot (TOF). METHODS: Prospectively, 51 consecutive adults with repaired TOF (35.5±11.6yrs., 25 males) were enrolled and non-invasively assessed the pressure wave reflection using HEM 9000AI...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27861233/aortic-volumetry-at-contrast-enhanced-magnetic-resonance-angiography-feasibility-as-a-sensitive-method-for-monitoring-bicuspid-aortic-valve-aortopathy
#17
Brian Trinh, Iram Dubin, Ozair Rahman, Marcos P Ferreira Botelho, Nicholas Naro, James C Carr, Jeremy D Collins, Alex J Barker
OBJECTIVES: Bicuspid aortic valve patients can develop thoracic aortic aneurysms and therefore require serial imaging to monitor aortic growth. This study investigates the reliability of contrast-enhanced magnetic resonance angiography (CEMRA) volumetry compared with 2-dimensional diameter measurements to identify thoracic aortic aneurysm growth. MATERIALS AND METHODS: A retrospective, institutional review board-approved, and Health Insurance Portability and Accountability Act-compliant study was conducted on 20 bicuspid aortic valve patients (45 ± 8...
November 17, 2016: Investigative Radiology
https://www.readbyqxmd.com/read/27855987/simulations-of-morphotype-dependent-hemodynamics-in-non-dilated-bicuspid-aortic-valve-aortas
#18
Kai Cao, Samantha K Atkins, Andrew McNally, Janet Liu, Philippe Sucosky
Bicuspid aortic valves (BAVs) generate flow abnormalities that may promote aortopathy. While positive helix fraction (PHF) index, flow angle (θ), flow displacement (d) and wall shear stress (WSS) exhibit abnormalities in dilated BAV aortas, it is unclear whether those anomalies stem from the abnormal valve anatomy or the dilated aorta. Therefore, the objective of this study was to quantify the early impact of different BAV morphotypes on aorta hemodynamics prior to dilation. Fluid-structure interaction models were designed to quantify standard peak-systolic flow metrics and temporal WSS characteristics in a realistic non-dilated aorta connected to functional tricuspid aortic valve (TAV) and type-I BAVs...
January 4, 2017: Journal of Biomechanics
https://www.readbyqxmd.com/read/27852591/ventricular-vascular-coupling-in-marfan-and-non-marfan-aortopathies
#19
Farina Loeper, Jantine Oosterhof, Mark van den Dorpel, Denise van der Linde, Yaxin Lu, Elizabeth Robertson, Brett Hambly, Richmond Jeremy
BACKGROUND: Marfan syndrome (MFS) and familial non-syndromal thoracic aortic aneurysm and dissection (ns-TAAD) are genetic aortopathies causing aortic dilatation with increased aortic stiffness. Left ventricular (LV) contractility and ventricular-vascular coupling index (VVI) were compared between MFS and ns-TAAD and determinants of VVI were investigated. METHODS AND RESULTS: Patients with MFS (M 57, F 47) and ns-TAAD (M 72, F 39) were studied by echocardiography and compared with controls (M 77, F 71)...
November 16, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27816335/developmental-changes-in-aortic-mechanical-properties-in-normal-fetuses-and-fetuses-with-cardiovascular-disease
#20
Mio Taketazu, Masaya Sugimoto, Hirofumi Saiki, Hirotaka Ishido, Satoshi Masutani, Hideaki Senzaki
BACKGROUND: We hypothesized that fetal aortic mechanical properties assessed by aortic diameter (AoD) and flow show maturational changes during the gestational period, and that these properties are different in fetuses with congenital heart diseases and fetuses with normal development. METHODS: Phasic changes in ascending AoD along with Doppler flow profile were measured in 84 consecutive normal fetuses (gestational age, 18-36 weeks) and in 30 consecutive fetuses with cardiovascular diseases (gestational age, 22-39 weeks)...
September 28, 2016: Pediatrics and Neonatology
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