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Genetic aortic syndrome

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https://www.readbyqxmd.com/read/28067899/nitric-oxide-mediates-aortic-disease-in-mice-deficient-in-the-metalloprotease-adamts1-and-in-a-mouse-model-of-marfan-syndrome
#1
Jorge Oller, Nerea Méndez-Barbero, E Josue Ruiz, Silvia Villahoz, Marjolijn Renard, Lizet I Canelas, Ana M Briones, Rut Alberca, Noelia Lozano-Vidal, María A Hurlé, Dianna Milewicz, Arturo Evangelista, Mercedes Salaices, J Francisco Nistal, Luis Jesús Jiménez-Borreguero, Julie De Backer, Miguel R Campanero, Juan Miguel Redondo
Heritable thoracic aortic aneurysms and dissections (TAAD), including Marfan syndrome (MFS), currently lack a cure, and causative mutations have been identified for only a fraction of affected families. Here we identify the metalloproteinase ADAMTS1 and inducible nitric oxide synthase (NOS2) as therapeutic targets in individuals with TAAD. We show that Adamts1 is a major mediator of vascular homeostasis, given that genetic haploinsufficiency of Adamts1 in mice causes TAAD similar to MFS. Aortic nitric oxide and Nos2 levels were higher in Adamts1-deficient mice and in a mouse model of MFS (hereafter referred to as MFS mice), and Nos2 inactivation protected both types of mice from aortic pathology...
January 9, 2017: Nature Medicine
https://www.readbyqxmd.com/read/28065489/chronobiology-of-acute-aortic-dissection-in-the-marfan-syndrome-from-the-national-registry-of-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-and-the-international-registry-of-acute-aortic-dissection
#2
Hasan K Siddiqi, Steven N Luminais, Dan Montgomery, Eduardo Bossone, Harry Dietz, Arturo Evangelista, Eric Isselbacher, Scott LeMaire, Roberto Manfredini, Dianna Milewicz, Christoph A Nienaber, Mary Roman, Udo Sechtem, Michael Silberbach, Kim A Eagle, Reed E Pyeritz
Marfan syndrome (MFS) is an autosomal dominant connective tissue disease associated with acute aortic dissection (AAD). We used 2 large registries that include patients with MFS to investigate possible trends in the chronobiology of AAD in MFS. We queried the International Registry of Acute Aortic Dissection (IRAD) and the Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) registry to extract data on all patients with MFS who had suffered an AAD. The group included 257 patients with MFS who suffered an AAD from 1980 to 2012...
December 2, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/28040141/prenatal-diagnosis-of-smith-magenis-syndrome-in-two-fetuses-with-increased-nuchal-translucency-mild-lateral-ventriculomegaly-and-congenital-heart-defects
#3
Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao
OBJECTIVE: Smith-Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical literature regarding prenatal diagnosis of SMS. We report on the prenatal diagnosis of SMS in two fetuses with increased nuchal translucency (NT), mild lateral ventriculomegaly, and congenital heart defects by whole-genome and high-resolution chromosome microarray analysis (CMA)...
December 2016: Taiwanese Journal of Obstetrics & Gynecology
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
#4
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/27922338/pathophysiology-of-aortic-aneurysm-insights-from-human-genetics-and-mouse-models
#5
Nicole K Wilson, Russell A Gould, Elena Gallo MacFarlane, Mibava Leducq Consortium
Aneurysms are local dilations of an artery that predispose the vessel to sudden rupture. They are often asymptomatic and undiagnosed, resulting in a high mortality rate. The predisposition to develop thoracic aortic aneurysms is often genetically inherited and associated with syndromes affecting connective tissue homeostasis. This review discusses how elucidation of the genetic causes of syndromic forms of thoracic aortic aneurysm has helped identify pathways that contribute to disease progression, including those activated by TGF-β, angiotensin II and Notch ligands...
December 2016: Pharmacogenomics
https://www.readbyqxmd.com/read/27852591/ventricular-vascular-coupling-in-marfan-and-non-marfan-aortopathies
#6
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/27826344/clinical-characteristics-of-marfan-syndrome-in-korea
#7
A Young Lim, Ju Sun Song, Eun Kyoung Kim, Shin Yi Jang, Tae-Young Chung, Seung-Hyuk Choi, Kiick Sung, June Huh, I-Seok Kang, Yeon Hyeon Choe, Chang-Seok Ki, Duk-Kyung Kim
BACKGROUND AND OBJECTIVES: Marfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS. SUBJECTS AND METHODS: We included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center...
November 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27782106/a-missense-tgfb2-variant-p-arg320cys-causes-a-paradoxical-and-striking-increase-in-aortic-tgfb1-2-expression
#8
Raya Al Maskari, Yasmin, S Cleary, Nikki Figg, Sarju Mehta, Doris Rassl, Ian Wilkinson, Kevin M O'Shaughnessy
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue disorder with a range of cardiovascular, skeletal, craniofacial and cutaneous manifestations. LDS type 4 is caused by mutations in TGFβ ligand 2 (TGFB2) and based on the family pedigrees described to date, appears to have a milder clinical phenotype, often presenting with isolated aortic disease. We sought to investigate its molecular basis in a new pedigree. We identified a missense variant p.(Arg320Cys) (NM_003238.3) in a highly evolutionary conserved region of TGFB2 in a new LDS type 4 pedigree with multiple cases of aortic aneurysms and dissections...
January 2016: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27724990/identification-of-fbn1-gene-mutations-in-ukrainian-marfan-syndrome-patients
#9
Rustam Zhurayev, Dorien Proost, Dmytro Zerbino, Viktor Fedorenko, Josephina A N Meester, Lut VAN Laer, Bart L Loeys
Marfan syndrome is an autosomal dominant connective tissue disorder, predominantly affecting the ocular, skeletal and cardiovascular systems. Here, we present the results of the first genetic testing in 40 Ukrainian Marfan (-like) patients and 10 relatives. We applied a targeted next generation sequencing panel comprising FBN1 and 13 thoracic aortic aneurysm genes. We identified 27 causal mutations in FBN1, obtaining a mutation yield of 67·5%. A significant difference in age at aortic surgery between mutation positive and negative patients was observed...
October 11, 2016: Genetics Research
https://www.readbyqxmd.com/read/27704402/the-effect-of-losartan-therapy-on-ventricular-function-in-marfan-patients-with-haploinsufficient-or-dominant-negative-fbn1-mutations
#10
A W den Hartog, R Franken, M P van den Berg, A H Zwinderman, J Timmermans, A J Scholte, V de Waard, A M Spijkerboer, G Pals, B J M Mulder, M Groenink
BACKGROUND: Mild biventricular dysfunction is often present in patients with Marfan syndrome. Losartan has been shown to reduce aortic dilatation in patients with Marfan syndrome. This study assesses the effect of losartan on ventricular volume and function in genetically classified subgroups of asymptomatic Marfan patients without significant valvular regurgitation. METHODS: In this predefined substudy of the COMPARE study, Marfan patients were classified based on the effect of their FBN1 mutation on fibrillin-1 protein, categorised as haploinsufficient or dominant negative...
November 2016: Netherlands Heart Journal
https://www.readbyqxmd.com/read/27632686/loss-of-function-mutations-in-the-x-linked-biglycan-gene-cause-a-severe-syndromic-form-of-thoracic-aortic-aneurysms-and-dissections
#11
Josephina A N Meester, Geert Vandeweyer, Isabel Pintelon, Martin Lammens, Lana Van Hoorick, Simon De Belder, Kathryn Waitzman, Luciana Young, Larry W Markham, Julie Vogt, Julie Richer, Luc M Beauchesne, Sheila Unger, Andrea Superti-Furga, Milan Prsa, Rami Dhillon, Edwin Reyniers, Harry C Dietz, Wim Wuyts, Geert Mortier, Aline Verstraeten, Lut Van Laer, Bart L Loeys
PURPOSE: Thoracic aortic aneurysm and dissection (TAAD) is typically inherited in an autosomal dominant manner, but rare X-linked families have been described. So far, the only known X-linked gene is FLNA, which is associated with the periventricular nodular heterotopia type of Ehlers-Danlos syndrome. However, mutations in this gene explain only a small number of X-linked TAAD families. METHODS: We performed targeted resequencing of 368 candidate genes in a cohort of 11 molecularly unexplained Marfan probands...
September 15, 2016: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/27611364/genetic-testing-of-248-chinese-aortopathy-patients-using-a-panel-assay
#12
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
https://www.readbyqxmd.com/read/27592600/palliation-outcomes-of-neonates-born-with-single-ventricle-anomalies-associated-with-aortic-arch-obstruction
#13
Bahaaldin Alsoufi, Courtney McCracken, Subhadra Shashidharan, Brian Kogon, William Border, Kirk Kanter
BACKGROUND: The two most common surgical strategies for the treatment of neonates born with single-ventricle anomalies associated with aortic arch obstruction are the Norwood operation and pulmonary artery banding plus coarctation repair (PAB+COA). We reviewed characteristics and outcomes of neonates who underwent those two surgical strategies at our institution. METHODS: Between 2002 and 2012, 94 neonates with a single ventricle and aortic arch obstruction (excluding hypoplastic left heart syndrome) underwent Norwood (n = 65) or PAB+COA (n = 29)...
September 1, 2016: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/27572422/genetics-of-cardiovascular-diseases-lessons-learned-from-a-decade-of-genomics-research-in-iceland
#14
David O Arnar, Karl Andersen, Gudmundur Thorgeirsson
In the past 10 years, large-scale genotyping has led to discoveries of sequence variants that confer the risk of many common and complex diseases. Due to pioneering work done, in large part, at deCODE genetics in Reykjavik, discoveries from Iceland have contributed substantially to key advances in population genetics. In cardiovascular medicine, a number of discoveries have been made, uncovering sequence variants that are associated with disorders such as coronary artery disease, atrial fibrillation, sick sinus syndrome, peripheral vascular disease, aortic aneurysm, and ischemic stroke...
September 15, 2016: Scandinavian Cardiovascular Journal: SCJ
https://www.readbyqxmd.com/read/27563544/outcomes-and-management-of-type-a-intramural-hematoma
#15
Harleen K Sandhu, Akiko Tanaka, Kristofer M Charlton-Ouw, Rana O Afifi, Charles C Miller, Hazim J Safi, Anthony L Estrera
BACKGROUND: Initial optimal management of acute type A aortic dissection (ATAAD) with intramural hematoma (ATAIMH) remains controversial, especially between centers in the Eastern vs. Western worlds. We examined the literature and our experience to report outcomes after repair of ATAIMH. METHODS: We reviewed the hospital, follow-up clinic records and online mortality databases for all patients who presented to our center for open repair of ATAAD between 1999 and 2014...
July 2016: Annals of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/27535662/vascular-smooth-muscle-cells-in-marfan-syndrome-aneurysm-the-broken-bricks-in-the-aortic-wall
#16
REVIEW
Gianluca L Perrucci, Erica Rurali, Aoife Gowran, Alessandro Pini, Carlo Antona, Roberto Chiesa, Giulio Pompilio, Patrizia Nigro
Marfan syndrome (MFS) is a connective tissue disorder with multiple organ manifestations. The genetic cause of this syndrome is the mutation of the FBN1 gene, encoding the extracellular matrix (ECM) protein fibrillin-1. This genetic alteration leads to the degeneration of microfibril structures and ECM integrity in the tunica media of the aorta. Indeed, thoracic aortic aneurysm and dissection represent the leading cause of death in MFS patients. To date, the most effective treatment option for this pathology is the surgical substitution of the damaged aorta...
January 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/27527829/friesian-horses-as-a-possible-model-for-human-acquired-aortopulmonary-fistulation
#17
V Saey, T Vandecasteele, G van Loon, P Cornillie, M Ploeg, C Delesalle, A Gröne, I Gielen, R Ducatelle, K Chiers
BACKGROUND: Acquired aortopulmonary fistulation is a rare condition in humans. It usually results as a late complication of a true or pseudoaneurysm of the thoracic aorta. It is most commonly associated with trauma or surgery, less commonly with atherosclerosis, inflammation, hypertension or Marfan's syndrome. Aortopulmonary fistulation is also seen as a rare complication of acute aortic dissection. On rare occasions, acquired aortopulmonary fistulation is reported in aged patients without any of the above mentioned triggering factors...
August 15, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27521346/single-stage-total-arch-replacement-including-resection-of-kommerell-diverticulum-in-a-patient-with-loeys-dietz-syndrome
#18
Chin Siang Ong, Yuhei Kasai, Souta Fukushima, Narutoshi Hibino, Trent Magruder, Alejandro Suarez-Pierre, Duke Cameron, Luca Vricella
Loeys-Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder associated with aortic aneurysmal disease. Kommerell diverticulum (KD) is a rare aortic diverticulum, for which the indication for surgery and the surgical techniques remain subjects of debate. We describe our experience with a successful total aortic arch replacement including KD resection through a median sternotomy for a pediatric patient with LDS.
September 2016: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/27515814/aortic-complications-associated-with-pregnancy-in-marfan-syndrome-the-nhlbi-national-registry-of-genetically-triggered-thoracic-aortic-aneurysms-and-cardiovascular-conditions-gentac
#19
Mary J Roman, Norma L Pugh, Tabitha P Hendershot, Richard B Devereux, Hal Dietz, Kathryn Holmes, Kim A Eagle, Scott A LeMaire, Dianna M Milewicz, Shaine A Morris, Reed E Pyeritz, William J Ravekes, Ralph V Shohet, Michael Silberbach
BACKGROUND: The risk of aortic complications associated with pregnancy in women with Marfan syndrome (MFS) is not fully understood. METHODS AND RESULTS: MFS women participating in the large National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions (GenTAC) were evaluated. Among 184 women with MFS in whom pregnancy information was available, 94 (51%) had a total of 227 pregnancies. Among the women with pregnancies, 10 (10...
August 11, 2016: Journal of the American Heart Association
https://www.readbyqxmd.com/read/27508837/-op-7c-05-aortic-stiffness-and-pulse-wave-analysis-in-children-and-adolescents-with-marfan-syndrome
#20
A Grillo, A Pini, L Gao, G Trifirò, S Marelli, F Viecca, L Salvi, P Salvi, M Rovina, R Carretta, G Parati
OBJECTIVE: Marfan syndrome (MFS) is an autosomal dominant genetic disorder characterized by aortic root dilation beginning in childhood. Aortic stiffness is increased in patients with MFS but data in pediatric age are lacking. Aim of this study was to evaluate aortic stiffness and pulse wave analysis in children and adolescents with MFS, compared to general pediatric population, and its association with aortic root diameters. DESIGN AND METHOD: Fifty-two children with MFS (age: 12...
September 2016: Journal of Hypertension
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