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https://www.readbyqxmd.com/read/29684119/aortic-stiffness-in-adolescent-turner-and-marfan-syndrome-patients
#1
Michal Schäfer, Lorna P Browne, Uyen Truong, James J Jaggers, Max B Mitchell, Ladonna Malone, Gareth Morgan, Kathryn Chatfield, Daniel McLennan, Harma Turbendian, Danial Vargas, Brian Fonseca, Michael DiMaria, Anar Shah, Margaret P Ivy, Alex J Barker, Kendall S Hunter, Neil Wilson, D Dunbar Ivy, David N Campbell
OBJECTIVES: Turner syndrome (TS) and Marfan syndrome (MFS) are partially characterized by aortopathies with a risk of developing severe aortic dilation, stiffness and consequent dissection and aneurysm formation. The incidence of a bicuspid aortic valve (BAV) is also increased in TS. We investigated aortic stiffness in teenage TS and MFS patients and evaluated to what degree stiffness in TS patients is augmented by the presence of a BAV. METHODS: Fifty-seven patients with TS (n = 37) and MFS (n = 20), as well as 22 controls with similar age and size distribution underwent evaluation of thoracic aortic stiffness using phase-contrast magnetic resonance imaging...
April 19, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29680713/bicuspid-aortic-valve-aortopathy-in-the-era-of-fake-news-a-clinician-s-perspective-on-the-truth
#2
EDITORIAL
Hector I Michelena
No abstract text is available yet for this article.
March 29, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29671812/enlightening-the-association-between-bicuspid-aortic-valve-and-aortopathy
#3
REVIEW
Froso Sophocleous, Elena Giulia Milano, Giulia Pontecorboli, Pierpaolo Chivasso, Massimo Caputo, Cha Rajakaruna, Chiara Bucciarelli-Ducci, Costanza Emanueli, Giovanni Biglino
Bicuspid aortic valve (BAV) patients have an increased incidence of developing aortic dilation. Despite its importance, the pathogenesis of aortopathy in BAV is still largely undetermined. Nowadays, intense focus falls both on BAV morphology and progression of valvular dysfunction and on the development of aortic dilation. However, less is known about the relationship between aortic valve morphology and aortic dilation. A better understanding of the molecular pathways involved in the homeostasis of the aortic wall, including the extracellular matrix, the plasticity of the vascular smooth cells, TGFβ signaling, and epigenetic dysregulation, is key to enlighten the mechanisms underpinning BAV-aortopathy development and progression...
April 19, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29666014/assessing-wall-stresses-in-bicuspid-aortic-valve-associated-aortopathy-forecasting-the-perfect-storm
#4
EDITORIAL
Alex J Barker, Michael Markl, Paul W M Fedak
No abstract text is available yet for this article.
March 31, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29656818/the-aortic-root-does-not-dilate-over-time-after-replacement-of-the-aortic-valve-and-ascending-aorta-in-patients-with-bicuspid-or-tricuspid-aortic-valves
#5
Sonya K Hui, Chun-Po Steve Fan, Shakira Christie, Christopher M Feindel, Tirone E David, Maral Ouzounian
OBJECTIVE: Whether the aortopathy associated with bicuspid aortic valve (BAV) disease occurs secondary to genetic or hemodynamic factors remains controversial. In this article we describe the natural history of the aortic root in patients with bicuspid versus tricuspid aortic valves (TAVs) after replacement of the aortic valve and ascending aorta. METHODS: From 1990 to 2010, 406 patients (269 BAV, 137 TAV) underwent aortic valve and ascending aorta replacement at a single institution...
March 13, 2018: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29625509/adult-congenital-heart-disease-with-pregnancy
#6
REVIEW
Koichiro Niwa
The number of women with congenital heart disease (CHD) at risk of pregnancy is growing because over 90% of them are grown-up into adulthood. The outcome of pregnancy and delivery is favorable in most of them provided that functional class and systemic ventricular function are good. Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk...
April 2018: Korean Circulation Journal
https://www.readbyqxmd.com/read/29625025/ltbp3-pathogenic-variants-predispose-individuals-to-thoracic-aortic-aneurysms-and-dissections
#7
Dong-Chuan Guo, Ellen S Regalado, Amelie Pinard, Jiyuan Chen, Kwanghyuk Lee, Christina Rigelsky, Lior Zilberberg, Ellen M Hostetler, Micheala Aldred, Stephanie E Wallace, Siddharth K Prakash, Suzanne M Leal, Michael J Bamshad, Deborah A Nickerson, Marvin Natowicz, Daniel B Rifkin, Dianna M Milewicz
The major diseases affecting the thoracic aorta are aneurysms and acute dissections, and pathogenic variants in 11 genes are confirmed to lead to heritable thoracic aortic disease. However, many families in which multiple members have thoracic aortic disease do not have alterations in the known aortopathy genes. Genes highly expressed in the aorta were assessed for rare variants in exome sequencing data from such families, and compound rare heterozygous variants (p.Pro45Argfs∗ 25 and p.Glu750∗ ) in LTBP3 were identified in affected members of one family...
April 5, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29506732/common-presentation-of-rare-diseases-aortic-aneurysms-valves
#8
Eloisa Arbustini, Valentina Favalli, Alessandro Di Toro, Lorenzo Giuliani, Giuseppe Limongelli
The concept "common presentation of rare diseases" implies that rare diseases are masked by common phenotypic manifestations. This concept applies to both aneurysmal and valvular diseases that can be syndromic and non-syndromic. Syndromic disorders include genetic connective tissue diseases and chromosomal disorders that are diagnosed independently from the aneurysm or valve disease. Non-syndromic diseases, on the other hand, are defined by the presence of aneurysm or valve disease or both. The reasons for suspecting these rare diseases include young age, the absence of risk factors, a positive family history for aortic or valvular disease/event, and extra-cardiovascular traits for syndromes...
April 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29462317/evaluation-of-microribonucleic-acids-as-potential-biomarkers-in-the-bicuspid-aortic-valve-associated-aortopathy%C3%A2
#9
Evaldas Girdauskas, Johannes Petersen, Niklas Neumann, Tatiana Groß, Shiho Naito, Mathias Hillebrand, Hermann Reichenspurner, Stefan Blankenberg, Tanja Zeller
OBJECTIVES: We aimed to evaluate the impact of microRNAs to predict the bicuspid aortic valve (BAV)-associated aortopathy. METHODS: Sixty-three BAV patients (mean age 47 ± 11 years, 92% men) with root dilatation, who underwent aortic valve ± proximal aortic surgery (mean post-AVR follow-up 10.3 ± 6.9 years) were included. The BAV aortopathy entities were categorized in the 'less dilated' (aortic root <50 mm) and 'severely dilated' (aortic root ≥50 mm) aorta...
February 14, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29433109/pathogenesis-of-aortic-wall-complications-in-marfan-syndrome
#10
Nimrat Grewal, Adriana C Gittenberger-de Groot
BACKGROUND: Patients with Marfan (MFS) syndrome and patients with a bicuspid aortic valve (BAV) are more prone to develop aortic dilation and dissection compared to persons with a tricuspid aortic valve (TAV). To elucidate potential common as well as distinct pathways of clinical relevance, we compared the histopathological substrates of aortic pathology. PATIENT AND METHODS: Ascending aortic wall specimen were divided in five groups: BAV (n=36) and TAV (n=23) without and with dilation and non-dilated MFS (n=8)...
February 2, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29426841/altered-dna-methylation-indicates-an-oscillatory-flow-mediated-epithelial-to-mesenchymal-transition-signature-in-ascending-aorta-of-patients-with-bicuspid-aortic-valve
#11
Hanna M Björck, Lei Du, Silvia Pulignani, Valentina Paloschi, Karin Lundströmer, Alexandra S Kostina, Cecilia Österholm, Anna Malashicheva, Anna Kostareva, Arturo Evangelista, Gisela Teixidó-Tura, Shohreh Maleki, Anders Franco-Cereceda, Per Eriksson
Disturbed flow has been suggested to contribute to aneurysm susceptibility in bicuspid aortic valve (BAV) patients. Lately, flow has emerged as an important modulator of DNA methylation. Hear we combined global methylation analysis with in vitro studies of flow-sensitive methylation to identify biological processes associated with BAV-aortopathy and the potential contribution of flow. Biopsies from non-dilated and dilated ascending aortas were collected from BAV (n = 21) and tricuspid aortic valve (TAV) patients (n = 23)...
February 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29362194/coronary-button-pseudoaneurysms-after-aortic-root-replacement-in-a-child-with-loeys-deitz-syndrome
#12
Charles D Fraser, Xun Zhou, Rui Han Liu, Cecillia Lui, Duke E Cameron, Marshall L Jacobs, Luca A Vricella, Narutoshi Hibino
Loeys-Deitz syndrome (LDS) is a connective tissue disorder characterized by aggressive aortopathy with a proclivity for aortic aneurysmal rupture and dissection. Prophylactic surgical intervention is often indicated to ameliorate risk of aneurysm rupture. Aortic root replacement involves excision of the coronary arteries from the aortic root with a button of surrounding aortic tissue and subsequent anastomosis of these buttons to the synthetic aortic graft. We report the case of a 16-year-old girl with LDS who developed pseudoaneurysms at the sites of previous coronary button implantation...
February 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29362193/ascending-aortic-aneurysm-in-a-child-with-fibulin-4-deficiency
#13
Makoto Hibino, Yoshimasa Sakai, Wataru Kato, Keisuke Tanaka, Kazuyoshi Tajima, Takehiko Yokoyama, Mitsuji Iwasa, Hiroko Morisaki, Toyonori Tsuzuki, Akihiko Usui
EFEMP2 (alias FBLN4) encodes extracellular matrix protein fibulin-4, and its mutation is associated with autosomal recessive cutis laxa type 1B and leads to severe aortopathy with aneurysm formation and vascular tortuosity. A 4-month-old child presented with a large ascending aortic aneurysm, and genetic testing revealed an EFEMP2 mutation. We achieved successful repair of the ascending aortic aneurysm at 33 months of age and report the macroscopic and microscopic findings.
February 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29357934/the-importance-of-genotype-phenotype-correlation-in-the-clinical-management-of-marfan-syndrome
#14
Víctor Manuel Becerra-Muñoz, Juan José Gómez-Doblas, Carlos Porras-Martín, Miguel Such-Martínez, María Generosa Crespo-Leiro, Roberto Barriales-Villa, Eduardo de Teresa-Galván, Manuel Jiménez-Navarro, Fernando Cabrera-Bueno
BACKGROUND: Marfan syndrome (MFS) is a disorder of autosomal dominant inheritance, in which aortic root dilation is the main cause of morbidity and mortality. Fibrillin-1 (FBN-1) gene mutations are found in more than 90% of MFS cases. The aim of our study was to summarise variants in FBN-1 and establish the genotype-phenotype correlation, with particular interest in the onset of aortic events, in a broad population of patients with an initial clinical suspicion of MFS. MATERIAL AND METHODS: This single centre prospective cohort study included all patients presenting variants in the FBN-1 gene who visited a Hereditary Aortopathy clinic between September 2010 and October 2016...
January 22, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29346529/echocardiographic-criteria-to-detect-unicuspid-aortic-valve-morphology
#15
Sebastian Ewen, Irem Karliova, Petra Weber, Stephan H Schirmer, Hashim Abdul-Khaliq, Jakob Schöpe, Felix Mahfoud, Hans-Joachim Schäfers
Aims: Unicuspid aortic valve (UAV) is a rare congenital malformation associated with severe aortic stenosis or regurgitation. This study aimed to systematically determine echocardiographic criteria to identify UAV. Methods and results: All patients underwent a preoperative baseline examination, including echocardiography. A total of 69 patients with intraoperatively confirmed UAV underwent an aortic valve repair procedure between August 2001 and May 2011. To compare the findings of UAV cases with those of other valve morphologies, we examined 99 consecutive patients with a bicuspid aortic valve (BAV) and 103 consecutive patients with a tricuspid aortic valve (TAV) undergoing isolated aortic valve surgery before May 2016...
January 15, 2018: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29334594/thoracic-aortic-aneurysm-in-patients-with-loss-of-function-filamin-a-mutations-clinical-characterization-genetics-and-recommendations
#16
Ming Hui Chen, Sangita Choudhury, Mami Hirata, Siri Khalsa, Bernard Chang, Christopher A Walsh
The frequency and gender distribution of thoracic aortic aneurysm as a cardiovascular manifestation of loss-of-function (LOF) X-linked FilaminA (FLNA) mutations are not known. Furthermore, there is very limited cardiovascular morbidity or mortality data in children and adults. We analyzed cardiac data on the largest series of 114 patients with LOF FLNA mutations, both children and adults, with periventricular nodular heterotopia (PVNH), including 48 study patients and 66 literature patients, median age of 22...
February 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29332374/transcatheter-aortic-valve-replacement-in-bicuspid-aortic-valve-stenosis-where-do-we-stand
#17
Sung-Han Yoon, Rahul Sharma, Tarun Chakravarty, Masaki Miyasaka, Tomoki Ochiai, Takahiro Nomura, Norman Gellada, Shadi Nemanpour, Mamoo Nakamura, Wen Chen, Raj Makkar
Bicuspid aortic valve is the most common congenital cardiac defect in adults, and symptom typically develops in adulthood. In the majority of cases, bicuspid aortic valve disease progress with ages and surgical aortic valve replacement is performed with excellent operative outcomes. However, with the relatively slow progression of disease, surgical aortic valve replacement is required in elderly patients but the surgical risk often deemed extremely high due to old age and multiple comorbidities. Transcatheter aortic valve replacement (TAVR) has evolved from a novel technology to an established therapy for intermediate- and high-risk patients with symptomatic severe aortic valve stenosis (AS)...
January 11, 2018: Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/29329990/transcatheter-aortic-valve-implantation-in-morphologically-complex-root-aneurysms
#18
Markus Mach, Bernhard Winkler, David Santer, Harald Pisarik, Sandra Folkmann, Marieluise Harrer, Gabriel Weiss, Franz Veit, Christoph Adlbrecht, Andreas Strouhal, Georg Delle-Karth, Martin Grabenwöger
Performing transcatheter aortic valve implantation in the presence of aneurysmatic aortopathy is widely contraindicated but needs to be taken into account as a bailout strategy in selected patients. Deliberate preoperative assessment of measurements becomes the crucial key element in this context. After meticulous valve selection, retrograde access is obtained through the right subclavian artery additionally serving as a backup arterial cannulation site in case of conversion. Transcatheter aortic valve implantation is then performed through the transapical route...
April 2018: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29320330/cardiovascular-manifestations-and-complications-of-loeys-dietz-syndrome-ct-and-mr-imaging-findings
#19
William W Loughborough, Kishore S Minhas, Jonathan C L Rodrigues, Stephen M Lyen, Helen E Burt, Nathan E Manghat, Marcus J Brooks, Graham Stuart, Mark C K Hamilton
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions...
January 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29286269/landmark-lecture-perloff-lecture-tribute-to-professor-joseph-kayle-perloff-and-lessons-learned-from-him-aortopathy-in-adults-with-chd
#20
Koichiro Niwa
Marfan syndrome, bicuspid aortic valve, and/or coarctation of the aorta are associated with medial abnormalities of the ascending aortic or para-coarctation aorta. Medial abnormalities in the ascending aorta are prevalent in other type of patients with a variety of CHDs such as single ventricle, persistent truncus arteriosus, transposition of the great arteries, hypoplastic left heart syndrome, and tetralogy of Fallot, encompassing a wide age range and may predispose to dilatation, aneurysm, and rapture necessitating aortic valve and root surgery...
December 2017: Cardiology in the Young
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