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https://www.readbyqxmd.com/read/28816420/two-patients-with-the-heterozygous-r189h-mutation-in-acta2-and-complex-congenital-heart-defects-expands-the-cardiac-phenotype-of-multisystemic-smooth-muscle-dysfunction-syndrome
#1
Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn
No abstract text is available yet for this article.
September 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28814376/cross-sectional-imaging-of-sinus-of-valsalva-aneurysms-lessons-learned
#2
Mina F Hanna, Nagina Malguria, Sachin S Saboo, Kirk G Jordan, Michael Landay, Brian B Ghoshhajra, Suhny Abbara
Sinus of Valsalva aneurysm, dilatation of one or more of the aortic sinuses, is a rare but important aortic root defect, which can be a cause of some serious cardiac sequels. The purpose of this article is to review the etiopathogenesis, relevant anatomy, clinical manifestations, potential complications, multimodality imaging features, and management of this rare but important entity of sinus of Valsalva.
August 17, 2017: Diagnostic and Interventional Radiology: Official Journal of the Turkish Society of Radiology
https://www.readbyqxmd.com/read/28812462/severe-intrauterine-amputations-in-one-dichorionic-twin-with-pentalogy-of-cantrell-further-evidence-and-consideration-for-mechanical-teratogenesis
#3
Víctor M Salinas-Torres, Estivaliz A De La O-Espinoza, Rafael A Salinas-Torres
Pentalogy of Cantrell (PC) is characterized by midline supraumbilical abdominal wall defect, lower sternum defect, anterior diaphragmatic and pericardial defect, and congenital cardiac anomalies. Several etiological influences have been postulated, however, most of the reported cases are sporadic. In addition, evidence for mechanical teratogenesis in PC is limited. Here, we describe in one dichorionic twin with complete PC, additional severe intrauterine amputations (mainly head and neck) not previously reported resultant from mechanical teratogenesis...
September 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28812262/systolic-dysfunction-in-infarcted-mice-does-not-necessarily-lead-to-heart-failure-need-to-refine-preclinical-models
#4
María Villalba-Orero, Marina López-Olañeta, Pablo García-Pavía, Enrique Lara-Pezzi
Heart failure (HF) is a major cause of death and hospitalization worldwide. Despite advances in reducing mortality, prognosis remains poor and prevalence has reached epidemic proportions. The limitations of available preclinical models represent a major hurdle in the development of new therapies. Myocardial infarction (MI) is a main cause of HF in humans, and mouse models of MI are often used to study HF mechanisms and experimental treatments. We investigated whether MI in mice constitutes an appropriate model of HF...
August 15, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28811093/risk-factors-for-infective-endocarditis-in-children-with-congenital-heart-diseases-a-nationwide-population-based-case-control-study
#5
Li-Chuan Sun, Chih-Cheng Lai, Cheng-Yi Wang, Ya-Hui Wang, Jen-Yu Wang, Yo-Ling Hsu, Yin-Lan Hu, En-Ting Wu, Ming-Tai Lin, Leticia B Sy, Likwang Chen
BACKGROUND: Infective endocarditis (IE) is uncommon in childhood. Its associated epidemiological characteristics in patients with congenital heart disease (CHD) remain unclear. METHODS: The study population included children born in Taiwan during the years 1997 to 2005 who were diagnosed as having CHD before 3years of age. All children were followed up until the end year of 2010, the diagnosis of infective endocarditis, or death. The demographic characteristics of patients with and without IE, the invasive procedures performed during 6months before the index date, the prophylactic antibiotics related to dental procedures, and in-hospital mortality were collected...
August 12, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28807900/heart-morphogenesis-gene-regulatory-networks-revealed-by-temporal-expression-analysis
#6
Jonathon T Hill, Bradley Demarest, Megan Smith, Bushra Gorsi, H Joseph Yost
During embryogenesis, the heart forms as a linear tube that then undergoes multiple simultaneous morphogenetic events to obtain its mature shape. To understand the gene regulatory networks (GRNs) driving this phase of heart development, during which many congenital heart disease malformations likely arise, we conducted an RNA-seq time course in zebrafish from 30 hpf to 72 hpf and identified 5,861 genes with altered expression. We then clustered the genes by temporal expression pattern, identified transcription factor binding motifs enriched in each cluster, and generated a model GRN for the major gene batteries in heart morphogenesis...
August 14, 2017: Development
https://www.readbyqxmd.com/read/28806758/developmental-vascular-remodeling-defects-and-postnatal-kidney-failure-in-mice-lacking-gpr116-adgrf5-and-eltd1-adgrl4
#7
Shun Lu, Shuya Liu, Astrid Wietelmann, Baktybek Kojonazarov, Ann Atzberger, Cong Tang, Ralph Theo Schermuly, Hermann-Josef Gröne, Stefan Offermanns
GPR116 (ADGRF5) and ELTD1 (ADGRL4) belong to different subfamilies of the adhesion G-protein-coupled receptor group but are both expressed in endothelial cells. We therefore analyzed their functions in mice lacking these receptors. While loss of GPR116 or ELTD1 alone had no obvious effect on cardiovascular or kidney function, mice lacking both, GPR116 and ELTD1, showed malformations of the aortic arch arteries and the cardiac outflow tract leading to perinatal lethality in about 50% of the mutants. In addition to cardiovascular malformations, surviving mice developed renal thrombotic microangiopathy as well as hemolysis and splenomegaly, and their lifespan was significantly reduced...
2017: PloS One
https://www.readbyqxmd.com/read/28805615/prenatal-diagnosis-of-holoprosencephaly-associated-with-smith-lemli-opitz-syndrome-slos-in-a-46-xx-fetus
#8
André Travessa, Patrícia Dias, Pedro Rocha, Ana Berta Sousa
OBJECTIVE: To show the importance of measuring cholesterol precursor levels in amniotic fluid in all pregnancies with ultrasound features (such as holoprosencephaly) suggestive of Smith-Lemli-Opitz syndrome (SLOS), after exclusion of chromosomal anomalies. CASE REPORT: A 28-year-old woman, gravida 1 para 0, performed chorionic villus sampling for fetal karyotyping at 13 weeks of gestation due to positive combined first trimester screening in a fetus with increased nuchal translucency and suspected holoprosencephaly...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28805038/novel-approaches-to-direct-atrial-access-after-extracardiac-fontan-palliation
#9
EDITORIAL
Victor Sam Lucas
Catheter access to the "native" atria is limited after extra-cardiac Fontan palliation of univentricular cardiac defects Catheter access to the atria is necessary to percutaneously treat acquired abnormalities after extra-cardiac Fontan palliation Direct trans-thoracic atrial access and extra-cardiac conduit puncture is technically straightforward and allows for novel catheter interventions.
August 1, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28805027/acute-and-midterm-results-following-perventricular-device-closure-of-muscular-ventricular-septal-defects-a-multicenter-pices-investigation
#10
Robert G Gray, Shaji C Menon, Joyce T Johnson, Aimee K Armstrong, Michael A Bingler, John P Breinholt, Damien Kenny, John Lozier, Joshua J Murphy, Shyam K Sathanandam, Nathaniel W Taggart, Sara M Trucco, Bryan H Goldstein, Brent M Gordon
OBJECTIVES: To describe acute and mid-term results of hybrid perventricular device closure of muscular ventricular septal defects (mVSDs). BACKGROUND: Perventricular device closure of mVSDs can mitigate technical limitations of percutaneous closure and need for cardiopulmonary bypass or ventriculotomy with a surgical approach. METHODS: This is a multicenter retrospective cohort study of patients undergoing hybrid perventricular mVSD device closure from 1/2004 to 1/2014...
August 1, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28804553/sirt3-attenuates-doxorubicin-induced-cardiac-hypertrophy-and-mitochondrial-dysfunction-via-suppression-of-bnip3
#11
Qiong Du, Bin Zhu, Qing Zhai, Bo Yu
Doxorubicin (Dox) is an anthracycline antibiotic widely used in cancer treatment. Although its antitumor efficacy appears to be dose dependent, its clinical use is greatly restricted by development of cardiotoxicity. Sirtuin-3 (Sirt3) is the major deacetylase within the mitochondrial matrix that plays an important role in regulation of cardiac function. This study was performed to identify the regulatory role of Sirt3 on Dox-induced cardiac hypertrophy and mitochondrial dysfunction in rats in vivo and in vitro...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28802159/increased-%C3%AE-catenin-accumulation-and-nuclear-translocation-are-associated-with-concentric-hypertrophy-in-cardiomyocytes
#12
Cheng-Yu Lee, Wei Wen Kuo, Rathinasamy Baskaran, Cecilia Hsuan Day, Pei Ying Pai, Chao Hung Lai, Yu-Feng Chen, Ray-Jade Chen, Viswanadha Vijaya Padma, Chih Yang Huang
Defective Wnt/β-Catenin signaling, activated under various pathological conditions, can result in cardiac and vascular abnormalities. In the present study, the possible role of β-catenin over expression during cardiac hypertrophy was investigated. Ten samples from hearts of human patients with acute infarction, and granulation tissue from 20 patients and 10 from normal ones were collected in order to investigate roles of β-catenin in cardiac hypertrophy. H9c2 cardiomyoblast cells and Wistar rat primary neonatal cardiomyocytes were overexpressed with β-catenin...
July 12, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/28802092/utility-of-capture-recapture-methodology-to-estimate-prevalence-of-congenital-heart-defects-among-adolescents-in-11-new-york-state-counties-2008-to-2010
#13
Tugba Akkaya-Hocagil, Wan-Hsiang Hsu, Kristin Sommerhalter, Claire McGarry, Alissa Van Zutphen
BACKGROUND: Congenital heart defects (CHDs) are the most common birth defects in the United States, and the population of individuals living with CHDs is growing. Though CHD prevalence in infancy has been well characterized, better prevalence estimates among children and adolescents in the United States are still needed. METHODS: We used capture-recapture methods to estimate CHD prevalence among adolescents residing in 11 New York counties. The three data sources used for analysis included Statewide Planning and Research Cooperative System (SPARCS) hospital inpatient records, SPARCS outpatient records, and medical records provided by seven pediatric congenital cardiac clinics from 2008 to 2010...
August 12, 2017: Birth defects research
https://www.readbyqxmd.com/read/28801537/closure-of-secundum-atrial-septal-defects-with-the-amplatzer-septal-occluder-a-prospective-multicenter-post-approval-study
#14
Daniel R Turner, Carl Y Owada, Charlie J Sang, Muhammad Khan, D Scott Lim
BACKGROUND: Prospective data on the medium-term safety and effectiveness of the AMPLATZER Septal Occluder in clinical practice are not available. The objective of this study was to prospectively evaluate the risk of hemodynamic compromise and obtain medium-term survival data on patients implanted with the AMPLATZER Septal Occluder for percutaneous closure of secundum atrial septal defects. METHODS AND RESULTS: Subjects were enrolled prospectively at 50 US sites and followed for 2 years...
August 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28801416/outcome-of-revascularisation-in-stable-coronary-artery-disease-without-ischaemia-a-danish-registry-based-follow-up-study
#15
Jane Angel Simonsen, Hans Mickley, Allan Johansen, Søren Hess, Anders Thomassen, Oke Gerke, Lisette O Jensen, Jesper Hallas, Werner Vach, Poul F Hoilund-Carlsen
OBJECTIVES: In stable coronary artery disease (CAD), coronary revascularisation may reduce mortality of patients with a certain amount of left ventricular myocardial ischaemia. However, revascularisation does not always follow the guidance suggested by ischaemia testing. We compared outcomes in patients without ischaemia who had either revascularisation or medical treatment. DESIGN AND POPULATION: Based on registries, 1327 consecutive patients with normal myocardial perfusion scintigraphy (MPS) and 278 with fixed perfusion defects were followed for a median of 6...
August 11, 2017: BMJ Open
https://www.readbyqxmd.com/read/28796027/heart-fat-in-hiv-marker-or-mediator-of-risk
#16
Jonathan Buggey, Chris T Longenecker
PURPOSE OF REVIEW: The review aims to summarize the literature describing the clinical impact of cardiac fat depots in patients with HIV infection. RECENT FINDINGS: People living with HIV (PLHIV) have accelerated rates of cardiovascular disease, and are prone to the development of ectopic fat deposition. Specifically, PLHIV have higher volumes of epicardial and intracardiac fat quantified by noninvasive imaging. Higher volumes of epicardial fat may be related to antiretroviral therapy duration and chronic inflammation, independently of other measures of body adiposity such as BMI...
August 8, 2017: Current Opinion in HIV and AIDS
https://www.readbyqxmd.com/read/28794819/upregulation-of-autophagy-genes-and-the-unfolded-protein-response-in-human-heart-failure
#17
Brian C Jensen, Scott J Bultman, Darcy Holley, Wei Tang, Gustaaf de Ridder, Salvatore Pizzo, Dawn Bowles, Monte S Willis
The cellular environment of the mammalian heart constantly is challenged with environmental and intrinsic pathological insults, which affect the proper folding of proteins in heart failure. The effects of damaged or misfolded proteins on the cell can be profound and result in a process termed "proteotoxicity". While proteotoxicity is best known for its role in mediating the pathogenesis of neurodegenerative diseases such as Alzheimer's disease, its role in human heart failure also has been recognized. The UPR involves three branches, including PERK, ATF6, and IRE1...
2017: International Journal of Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/28794139/denervated-myocardium-is-preferentially-associated-with-sudden-cardiac-arrest-in-ischemic-cardiomyopathy-a-pilot-competing-risks-analysis-of-cause-specific-mortality
#18
James A Fallavollita, Jonathan D Dare, Randolph L Carter, Sunil Baldwa, John M Canty
BACKGROUND: Previous studies have identified multiple risk factors that are associated with total cardiac mortality. Nevertheless, identifying specific factors that distinguish patients at risk of arrhythmic death versus heart failure could better target patients likely to benefit from implantable cardiac defibrillators, which have no impact on nonsudden cardiac death. METHODS AND RESULTS: We performed a pilot competing risks analysis of the National Institutes of Health-sponsored PAREPET trial (Prediction of Arrhythmic Events with Positron Emission Tomography)...
August 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/28793912/re-evaluation-of-hypoplastic-left-heart-syndrome-from-a-developmental-and-morphological-perspective
#19
A Crucean, A Alqahtani, D J Barron, W J Brawn, R V Richardson, J O'Sullivan, R H Anderson, D J Henderson, B Chaudhry
BACKGROUND: Hypoplastic left heart syndrome (HLHS) covers a spectrum of rare congenital anomalies characterised by a non-apex forming left ventricle and stenosis/atresia of the mitral and aortic valves. Despite many studies, the causes of HLHS remain unclear and there are conflicting views regarding the role of flow, valvar or myocardial abnormalities in its pathogenesis, all of which were proposed prior to the description of the second heart field. Our aim was to re-evaluate the patterns of malformation in HLHS in relation to recognised cardiac progenitor populations, with a view to providing aetiologically useful sub-groupings for genomic studies...
August 10, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28792876/nad-deficiency-congenital-malformations-and-niacin-supplementation
#20
Hongjun Shi, Annabelle Enriquez, Melissa Rapadas, Ella M M A Martin, Roni Wang, Julie Moreau, Chai K Lim, Justin O Szot, Eddie Ip, James N Hughes, Kotaro Sugimoto, David T Humphreys, Aideen M McInerney-Leo, Paul J Leo, Ghassan J Maghzal, Jake Halliday, Janine Smith, Alison Colley, Paul R Mark, Felicity Collins, David O Sillence, David S Winlaw, Joshua W K Ho, Gilles J Guillemin, Matthew A Brown, Kazu Kikuchi, Paul Q Thomas, Roland Stocker, Eleni Giannoulatou, Gavin Chapman, Emma L Duncan, Duncan B Sparrow, Sally L Dunwoodie
BACKGROUND: Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. METHODS: We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations...
August 10, 2017: New England Journal of Medicine
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