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Shohreh Maleki, Sanela Kjellqvist, Valentina Paloschi, Joelle Magné, Rui Miguel Mamede Branca, Lei Du, Kjell Hultenby, Johan Petrini, Jonas Fuxe, Janne Lehtiö, Anders Franco-Cereceda, Per Eriksson, Hanna M Björck
Individuals with a bicuspid aortic valve (BAV) are at significantly higher risk of developing aortic complications than individuals with tricuspid aortic valves (TAV) and defective signaling during the embryonic development and/or life time exposure to abnormal hemodynamic have been proposed as underlying factors. However, an explanation for the molecular mechanisms of aortopathy in BAV has not yet been provided. We combined proteomics, RNA analyses, immunohistochemistry, and electron microscopy to identify molecular differences in samples of non-dilated ascending aortas from BAV (N = 62) and TAV (N = 54) patients...
October 25, 2016: Scientific Reports
Ahmad Masri, Vidyasagar Kalahasti, Lars G Svensson, Eric E Roselli, Douglas Johnston, Donald Hammer, Paul Schoenhagen, Brian P Griffin, Milind Y Desai
BACKGROUND: -In patients with a dilated proximal ascending aorta and trileaflet aortic valve (TAV), we sought to assess a) factors independently associated with increased long-term mortality and b) the incremental prognostic utility of indexing aortic root to patient height. METHODS: -We studied consecutive patients with a dilated aortic root (≥4 cm) that underwent echocardiography and gated contrast-enhanced thoracic aortic computed tomography or magnetic resonance angiography between 2003-2007...
October 21, 2016: Circulation
Ramesh Singh, Katsuhiro Yamanaka, T Brett Reece
The extent and technique of resection for ascending aortopathies remains debated. The 2 main camps are divided into those who believe in the hemiarch resection utilizing hypothermic circulatory arrest and those who feel that the same goal can be accomplished with just an ascending aortic resection with an aortic cross clamp. While this debate continues to happen within groups and in some cases even in the same hospital, it certainly has not happened in the literature. There are no studies directly comparing the safety and efficacy of these 2 ideologies...
October 19, 2016: Seminars in Cardiothoracic and Vascular Anesthesia
Mohammed Idhrees, Vijay Thomas Cherian, Sabarinath Menon, Thomas Mathew, Baiju S Dharan, K Jayakumar
A 5-year-old boy was diagnosed to have supravalvular aortic stenosis (SVAS). On evaluation of CT angiogram, there was associated bovine aortic arch (BAA). Association of BAA with SVAS has not been previously reported in literature, and to best of our knowledge, this is the first case report of SVAS with BAA. Recent studies show BAA as a marker for aortopathy. SVAS is also an arteriopathy. In light of this, SVAS can also possibly be a manifestation of aortopathy associated with BAA.
September 2016: Indian Heart Journal
Oliver J Harrison, Narain Moorjani, Christopher Torrens, Sunil K Ohri, Felino R Cagampang
Bicuspid aortic valve (BAV) disease is the most common congenital cardiac abnormality and predisposes patients to life-threatening aortic complications including aortic aneurysm. Quantitative real-time reverse transcription PCR (qRT-PCR) is one of the most commonly used methods to investigate underlying molecular mechanisms involved in aortopathy. The accuracy of the gene expression data is dependent on normalization by appropriate housekeeping (HK) genes, whose expression should remain constant regardless of aortic valve morphology, aortic diameter and other factors associated with aortopathy...
2016: PloS One
Josephina Haunschild, Isabel N Schellinger, Sandy von Salisch, Farhad Bakhtiary, Martin Misfeld, Friedrich Wilhelm Mohr, Uwe Raaz, Christian D Etz
BACKGROUND: Bicuspid aortic valve (BAV), the most frequent congenital cardiac abnormality, is associated with a higher risk for ascending aortic aneurysms and aorta-related complications (ie, dissection and rupture). The aim of this study was to quantify granular media calcinosis (GMC) in the ascending aortic wall of patients with BAV. METHODS: We analyzed samples of the ascending aorta from patients with BAV (n = 54) and patients with tricuspid aortic valve (TAV) (n = 33) who underwent aortic repair, regarding medial thickness and diameter expansion...
September 22, 2016: Annals of Thoracic Surgery
Carmen Rueda-Martínez, Oscar Lamas, María José Mataró, Juan Robledo-Carmona, Gemma Sánchez-Espín, Inmaculada Moreno-Santos, Fernando Carrasco-Chinchilla, Pastora Gallego, Miguel Such-Martínez, Eduardo de Teresa, Manuel Jiménez-Navarro, Borja Fernández
OBJECTIVES: Bicuspid aortic valve (BAV) is the most prevalent congenital cardiac malformation, frequently associated with aortic dilatation (AD). The molecular mechanisms involved in AD and its aetiological link with BAV formation are poorly understood. Altered fibrillin-1 (FBN1) and metalloprotease-2, -9 (MMP2,9) protein activities have been suggested to be involved in BAV aortopathy. In addition, FBN2 participates in embryonic valve formation, but its possible involvement in BAV-associated AD has never been explored...
September 15, 2016: European Journal of Cardio-thoracic Surgery
Hang Yang, Mingyao Luo, Yuanyuan Fu, Yandong Cao, Kunlun Yin, Wenke Li, Chunjie Meng, Yanyun Ma, Jing Zhang, Yuxin Fan, Chang Shu, Qian Chang, Zhou Zhou
Inherited aortopathy, which is characterized by a high risk of fatal aortic aneurysms/dissections, can occur secondarily to several syndromes. To identify genetic mutations and help make a precise diagnosis, we designed a gene panel containing 15 genes responsible for inherited aortopathy and tested 248 probands with aortic disease or Marfan syndrome. The results showed that 92 individuals (37.1%) tested positive for a (likely) pathogenic mutation, most of which were FBN1 mutations. We found that patients with a FBN1 truncating or splicing mutation were more prone to developing severe aortic disease or valvular disease...
2016: Scientific Reports
Maria G Andreassi, Alessandro Della Corte
PURPOSE OF REVIEW: The incidence of aortic dilation and acute complications (rupture and dissection) is higher in patients with a bicuspid aortic valve (BAV), the most frequent congenital heart defect.The present review focuses on the current knowledge in the genetics of BAV, emphasizing the clinical implications for early detection and personalized care. RECENT FINDINGS: BAV is a highly heritable trait, but the genetic causes remain largely elusive. NOTCH1 is the only proven candidate gene to be associated with both familial and sporadic BAV...
November 2016: Current Opinion in Cardiology
F Daniel Ramirez, Bruce M Jamison, Benjamin Hibbert
Aortitis is broadly divided into infectious and non-infectious etiologies, each with distinct treatment implications. We present the case of a patient who sustained a type A aortic dissection during urgent coronary angiography for acute coronary syndrome. Clinical findings and events during the procedure raised suspicion for an underlying vascular disorder; however, the diagnosis of staphylococcal aortitis was not made until pathological examination of resected tissue. Clues to the diagnosis of infectious aortitis noted throughout the patient's clinical course are detailed as are potential consequences of diagnostic delays and treatment decisions, underscoring the difficulties in recognizing and managing the condition...
September 28, 2016: International Heart Journal
Samantha L Freeze, Benjamin J Landis, Stephanie M Ware, Benjamin M Helm
Bicuspid aortic valve (BAV) is the most common congenital heart defect and falls in the spectrum of left-sided heart defects, also known as left ventricular outflow tract obstructive (LVOTO) defects. BAV is often identified in otherwise healthy, asymptomatic individuals, but it is associated with serious long term health risks including progressive aortic valve disease (stenosis or regurgitation) and thoracic aortic aneurysm and dissection. BAV and other LVOTO defects have high heritability. Although recommendations for cardiac screening of BAV in at-risk relatives exist, there are no standard guidelines for providing genetic counseling to patients and families with BAV...
August 22, 2016: Journal of Genetic Counseling
Evaldas Girdauskas, Mina Rouman, Kushtrim Disha, Beatrix Fey, Georg Dubslaff, Yskert von Kodolitsch, Hermann Reichenspurner, Michael A Borger, Thomas Kuntze
BACKGROUND: Bicuspid aortic valve (BAV)-associated aortopathy is heterogeneous and still insufficiently defined. We prospectively analyzed the morphologic and functional variables of aortopathy in patients undergoing operations for BAV insufficiency (BAV-AI) vs stenosis (BAV-AS). METHODS: A total of 172 consecutive patients (71% male, 59 ± 10 years) underwent aortic valve replacement with or without proximal aortic operation for BAV-AS (n = 137), and BAV-AI (n = 35) from January 2012 through December 2014...
August 12, 2016: Annals of Thoracic Surgery
María Martín, Vicente Barriales, José Rozado, Alberto Alperi, Iria Silva, Rebeca Lorca, José Julián Rodríguez Reguero, César Morís
No abstract text is available yet for this article.
November 1, 2016: International Journal of Cardiology
Adam L Ware, Dylan V Miller, Lance K Erickson, Shaji C Menon
BACKGROUND: Marfan syndrome (MFS) is a multisystem connective tissue disorder that can lead to aortic dilation requiring aortic root replacement. Neonatal MFS (nMFS) is a rare and severe form of MFS compared to classic MFS (cMFS). Aortic root histology in MFS is thought to demonstrate predominantly medial degeneration (MD) of a translamellar mucoid extracellular matrix accumulation (MEMA-T) vs. the intralamellar mucoid extracellular matrix accumulation (MEMA-I) seen in other aortopathies...
September 2016: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
Susanne Schnell, Danielle A Smith, Alex J Barker, Pegah Entezari, Amir R Honarmand, Maria L Carr, S Chris Malaisrie, Patrick M McCarthy, Jeremy Collins, James C Carr, Michael Markl
AIMS: Bicuspid aortic valve (BAV) is known to exhibit familial inheritance and is associated with aortopathy and altered aortic haemodynamics. However, it remains unclear whether BAV-related aortopathy can be inherited independently of valve morphology. METHODS AND RESULTS: Four-dimensional flow magnetic resonance imaging for the in vivo assessment of thoracic aortic 3D blood flow was performed in 24 BAV relatives with trileaflet aortic valves (age = 40 ± 14 years) and 15 healthy controls (age = 37 ± 10 years)...
July 26, 2016: European Heart Journal Cardiovascular Imaging
Christoph A Nienaber, Rachel E Clough, Natzi Sakalihasan, Toru Suzuki, Richard Gibbs, Firas Mussa, Michael T Jenkins, Matt M Thompson, Arturo Evangelista, James S M Yeh, Nicholas Cheshire, Ulrich Rosendahl, John Pepper
Aortic dissection is a life-threatening condition caused by a tear in the intimal layer of the aorta or bleeding within the aortic wall, resulting in the separation (dissection) of the layers of the aortic wall. Aortic dissection is most common in those 65-75 years of age, with an incidence of 35 cases per 100,000 people per year in this population. Other risk factors include hypertension, dyslipidaemia and genetic disorders that involve the connective tissue, such as Marfan syndrome. Swift diagnostic confirmation and adequate treatment are crucial in managing affected patients...
2016: Nature Reviews. Disease Primers
Steven L Lansman, Joshua B Goldberg, Masashi Kai, Gilbert H L Tang, Ramin Malekan, David Spielvogel
Pregnancy engenders changes in hemodynamics and the aortic wall that make a woman more susceptible to aortic dilatation and dissection. This is particularly true of women with aortic dilatation and an aortopathy, including the inherited fibrillinopathies, bicuspid aortic valve, and Turner syndrome. Women in these risk groups may be served best by undergoing elective aortic surgery before becoming pregnant. However, some women present during pregnancy with significant aortic dilatation, rapid expansion, or aortic dissection, and strategies to deal with these situations, while optimizing maternal and fetal outcomes, change as gestation progresses...
June 24, 2016: Journal of Thoracic and Cardiovascular Surgery
Jiao Jiao, Wei Xiong, Lunchang Wang, Jiong Yang, Ping Qiu, Hiroyuki Hirai, Lina Shao, Dianna Milewicz, Y Eugene Chen, Bo Yang
Individuals with bicuspid aortic valves (BAV) are at a higher risk of developing thoracic aortic aneurysms (TAA) than patients with trileaflet aortic valves (TAV). The aneurysms associated with BAV most commonly involve the ascending aorta and spare the descending aorta. Smooth muscle cells (SMCs) in the ascending and descending aorta arise from neural crest (NC) and paraxial mesoderm (PM), respectively. We hypothesized defective differentiation of the neural crest stem cells (NCSCs)-derived SMCs but not paraxial mesoderm cells (PMCs)-derived SMCs contributes to the aortopathy associated with BAV...
August 2016: EBioMedicine
C Austin, S K Mathur, J Pepper
No abstract text is available yet for this article.
October 1, 2016: International Journal of Cardiology
Amalia Forte, Umberto Galderisi, Marilena Cipollaro, Marisa De Feo, Alessandro Della Corte
The term 'epigenetics' refers to heritable, reversible DNA or histone modifications that affect gene expression without modifying the DNA sequence. Epigenetic modulation of gene expression also includes the RNA interference mechanism. Epigenetic regulation of gene expression is fundamental during development and throughout life, also playing a central role in disease progression. The transforming growth factor β1 (TGF-β1) and its downstream effectors are key players in tissue repair and fibrosis, extracellular matrix remodelling, inflammation, cell proliferation and migration...
August 1, 2016: Clinical Science (1979-)
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