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https://www.readbyqxmd.com/read/29164811/congenital-heart-defects-in-ivf-icsi-pregnancy-a-systematic-review-and-meta-analysis
#1
REVIEW
Veronica Giorgione, Fabio Parazzini, Vlasta Fesslova, Sonia Cipriani, Massimo Candiani, Annalisa Inversetti, Cristina Sigismondi, Francesca Tiberio, Paolo Cavoretto
OBJECTIVE: There is no consensus in current practice guidelines whether IVF/ICSI conception represents an indication for performing a fetal echocardiogram. The aim of the study is to assess whether CHD occurs more often with the use of in-vitro-fertilization (IVF)/ intracytoplasmic sperm injection (ICSI) techniques as compared to spontaneous pregnancies. METHODS: A systematic search for studies in PubMed/MEDLINE, Embase and Scopus from inception to September 2017 was conducted...
November 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29162437/mouse-model-of-alagille-syndrome-and-mechanisms-of-jagged1-missense-mutations
#2
Emma R Andersson, Indira V Chivukula, Simona Hankeova, Marika Sjöqvist, Yat Long Tsoi, Daniel Ramsköld, Jan Masek, Aiman Elmansuri, Anita Hoogendoorn, Elenae Vazquez, Helena Storvall, Julie Netušilová, Meritxell Huch, Björn Fischler, Ewa Ellis, Adriana Contreras, Antal Nemeth, Kenneth C Chien, Hans Clevers, Rickard Sandberg, Vitezslav Bryja, Urban Lendahl
BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular abnormalities, characteristic facial features, heart defects, and vertebral malformations. Most cases are associated with mutations in JAGGED1 (JAG1), which encodes a Notch ligand, although it is not clear how these contribute to disease development. We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms. METHODS: Mice with a missense mutation (H268Q) in Jag1 (Jag1(+)/(Ndr) mice) were outbred to a C3H/C57bl6 background to generate a mouse model for Alagille syndrome (Jag1(Ndr/Ndr) mice)...
November 18, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#3
Sarah Guterman, Bérénice Hervé, Julie Rivière, Delphine Fauvert, Patrice Clement, François Vialard
Kleefstra syndrome (KS) is characterized by developmental delay, intellectual disability, hypotonia and distinct facial features. Additional clinical features include congenital heart defects, cerebral abnormalities, urogenital defects and weight gain. The syndrome is caused by a microdeletion in chromosomal region 9q34.3 (in 85% of cases) or by a mutation in the EHMT1 gene coding for euchromatin histone methyltransferase 1. The prenatal phenotype has not yet been characterized. Herein, we sought to define this phenotype on the basis of a new case report and literature review...
November 21, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29157037/fetal-nuchal-translucency-in-severe-congenital-heart-defects-experiences-in-northern-finland
#4
Julia Alanen, Markku Leskinen, Mikko Sairanen, Teemu Korpimaki, Heikki Kouru, Mika Gissler, Markku Ryynanen, Jaana Nevalainen
OBJECTIVE: To evaluate the performance of first trimester measurement of fetal nuchal translucency (NT) in detection of severe congenital heart defects (CHDs). METHODS: During the study period of 1.1.2008 - 31.12.2011 NT was measured in 31 144 women as a part of voluntary first trimester screening program for Down's syndrome in Northern Finland. NT was measured by personnel trained on the job by experienced staff. No certification or annual audits are required in Finland...
November 20, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29152921/proximity-to-pediatric-cardiac-surgical-care-among-adolescents-with-congenital-heart-defects-in-11-new-york-counties
#5
Kristin M Sommerhalter, Tabassum Z Insaf, Tugba Akkaya-Hocagil, Claire E McGarry, Sherry L Farr, Karrie F Downing, George K Lui, Ali N Zaidi, Alissa R Van Zutphen
BACKGROUND: Many individuals with congenital heart defects (CHDs) discontinue cardiac care in adolescence, putting them at risk of adverse health outcomes. Because geographic barriers may contribute to cessation of care, we sought to characterize geographic access to comprehensive cardiac care among adolescents with CHDs. METHODS: Using a population-based, 11-county surveillance system of CHDs in New York, we characterized proximity to the nearest pediatric cardiac surgical care center among adolescents aged 11 to 19 years with CHDs...
November 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/29146485/in-frame-variants-in-flna-proximal-rod-1-domain-associate-with-a-predominant-cardiac-valvular-phenotype
#6
Luis Fernández, Jair Tenorio, Coral Polo-Vaquero, Elena Vallespín, María Palomares-Bralo, Sixto García-Miñaúr, Fernando Santos-Simarro, Pedro Arias, Hernán Carnicer, Silvina Giannivelli, Juan Medina, Rosa Pérez-Piaya, Jorge Solís, Mónica Rodríguez, Alexandra Villagrá, Laura Rodríguez, Julián Nevado, Víctor Martínez-Glez, Karen E Heath, Pablo Lapunzina
INTRODUCTION AND OBJECTIVES: X-linked cardiac valvular dysplasia is a rare form of male-specific congenital heart defect mainly characterized by myxomatous degeneration of the atrioventricular valves with variable hemodynamic consequences. It is caused by genetic defects in FLNA-encoded filamin A, a widely expressed actin-binding protein that regulates cytoskeleton organization. Filamin A loss of function has also been associated with often concurring neurologic and connective tissue manifestations, with mutations in the first half of the Rod 1 domain apparently expressing the full cardiac phenotype...
November 13, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29145433/maternal-folic-acid-supplementation-and-dietary-folate-intake-and-congenital-heart-defects
#7
Baohong Mao, Jie Qiu, Nan Zhao, Yawen Shao, Wei Dai, Xiaochun He, Hongmei Cui, Xiaojuan Lin, Ling Lv, Zhongfeng Tang, Sijuan Xu, Huang Huang, Min Zhou, Xiaoying Xu, Weitao Qiu, Qing Liu, Yawei Zhang
BACKGROUND: It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs). However, the results from limited epidemiologic studies have been inconclusive. We investigated the associations between maternal folic acid supplementation, dietary folate intake, and the risk of CHDs. METHODS: A birth cohort study was conducted in 2010-2012 at the Gansu Provincial Maternity & Child Care Hospital in Lanzhou, China...
2017: PloS One
https://www.readbyqxmd.com/read/29145300/cost-effectiveness-analysis-of-neonatal-screening-of-critical-congenital-heart-defects-in-china
#8
Ruoyan Gai Tobe, Gerard R Martin, Fuhai Li, Akinori Moriichi, Bin Wu, Rintaro Mori
BACKGROUND: Pulse oximetry screening is a highly accurate tool for the early detection of critical congenital heart disease (CCHD) in newborn infants. As the technique is simple, noninvasive, and inexpensive, it has potentially significant benefits for developing countries. The aim of this study is to provide information for future clinical and health policy decisions by assessing the cost-effectiveness of CCHD screening in China. METHODS AND FINDINGS: We developed a cohort model to evaluate the cost-effectiveness of screening all Chinese newborns annually using 3 possible screening options compared to no intervention: pulse oximetry alone, clinical assessment alone, and pulse oximetry as an adjunct to clinical assessment...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29141989/analysis-of-copy-number-variants-on-chromosome-21-in-down-syndrome-associated-congenital-heart-defects
#9
Benjamin L Rambo-Martin, Jennifer G Mulle, David J Cutler, Lora J H Bean, Tracie C Rosser, Kenneth J Dooley, Clifford Cua, George Capone, Cheryl L Maslen, Roger H Reeves, Stephanie L Sherman, Michael E Zwick
One in five people with Down syndrome (DS) are born with an atrioventricular septal defect (AVSD), an incidence 2,000 times higher than in the euploid population. The genetic loci that contribute to this risk are poorly understood. In this study, we tested two hypotheses: 1) individuals with DS carrying chromosome 21 copy number variants (CNVs) that interrupt exons may be protected from AVSD, because these CNVs return AVSD susceptibility loci back to disomy, and 2) individuals with DS carrying chromosome 21 genes spanned by microduplications are at greater risk for AVSD because these microduplications boost the dosage of AVSD susceptibility loci beyond a tolerable threshold...
November 15, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29141840/cerebral-oxygenation-measurements-by-magnetic-resonance-imaging-in-fetuses-with-and-without-heart-defects
#10
Mette H Lauridsen, Niels Uldbjerg, Tine B Henriksen, Olav B Petersen, Brian Stausbøl-Grøn, Niels B Matthiesen, David A Peters, Steffen Ringgaard, Vibeke E Hjortdal
BACKGROUND: Children with major congenital heart defects are risking impaired cerebral growth, delayed cerebral maturation, and neurodevelopmental disorders. We aimed to compare the cerebral tissue oxygenation of fetuses with major heart defects to that of fetuses without heart defects as estimated by the magnetic resonance imaging modality T2*. T2* is low in areas with high concentrations of deoxyhemoglobin. METHODS AND RESULTS: At gestational age mean 32 weeks (early) and mean 37 weeks (late), we compared the fetal cerebral T2* in 28 fetuses without heart defects to that of 15 fetuses with major heart defects: transposition of the great arteries (n=7), coarctation of the aorta/hypoplastic aortic arch (n=5), tetralogy of Fallot (n=1), hypoplastic right heart (n=1), and common arterial trunk (n=1)...
November 2017: Circulation. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29138508/fetal-cardiac-cine-magnetic-resonance-imaging-in-utero
#11
Jerome Chaptinel, Jerome Yerly, Yvan Mivelaz, Milan Prsa, Leonor Alamo, Yvan Vial, Gregoire Berchier, Chantal Rohner, François Gudinchet, Matthias Stuber
Fast magnetic resonance imaging (MRI) led to the emergence of 'cine MRI' techniques, which enable the visualization of the beating heart and the assessment of cardiac morphology and dynamics. However, established cine MRI methods are not suitable for fetal heart imaging in utero, where anatomical structures are considerably smaller and recording an electrocardiogram signal for synchronizing MRI data acquisition is difficult. Here we present a framework to overcome these challenges. We use methods for image acquisition and reconstruction that robustly produce images with sufficient spatial and temporal resolution to detect the heart contractions of the fetus, enabling a retrospective gating of the images and thus the generation of images of the beating heart...
November 14, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29137093/an-incidental-encounter-of-a-rare-high-take-off-right-coronary-artery-a-case-report
#12
Xicheng Deng, Peng Huang, Wenjuan Chen, Xiaohui Yang, Qianjun Liu, Yunbin Xiao, Cheng He
RATIONALE: High take-off of the coronary arteries is a rare cardiac anatomic anomaly, which may occur independently or with other congenital heart defects. In the clinical setting, it is noteworthy as a cause of sudden cardiac death. Further, it is vital to identify such anomalies to avoid intraoperative catastrophes in surgeries for congenital heart defects. PATIENT CONCERNS: A II/6 systolic heart murmur on physical examination was incidentally found in a 9-year-old boy; he was confirmed to have a secundum-type atrial septal defect on echocardiography...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#13
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#14
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29131284/usefulness-of-cutting-balloon-angioplasty-for-the-treatment-of-congenital-heart-defects
#15
Jacek Kusa, Magdalena Mazurak, Agnieszka Skierska, Leslaw Szydlowski, Pawel Czesniewicz, Lukasz Manka
BACKGROUND: Patients with complex congenital heart defects may have different hemodynamic problems which require a variety of interventional procedures including angioplasty which involves using high-pressure balloons. After failure of conventional balloon angioplasty cutting balloon angioplasty is the next treatment option available. The purpose of this study was to evaluate the safety and efficacy of cutting balloon angioplasty in children with different types of congenital heart defects...
November 13, 2017: Cardiology Journal
https://www.readbyqxmd.com/read/29130013/an-unusual-mechanism-of-closure-of-muscular-ventricular-septal-defects
#16
Soham Dasgupta, Ashraf M Aly
Ventricular septal defects (VSDs) are the most common congenital heart defects. Most of the small or moderate size (<6 mm) muscular VSDs close spontaneously within the first two years of life. The usual mechanism of spontaneous closure involves muscular tissue encroachment with superimposed fibrosis or primary fibrous tissue formation around the margins of the defect. We describe an unusual mechanism of spontaneous closure of a muscular VSD.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29127498/dynamics-in-prevalence-of-down-syndrome-in-children-with-congenital-heart-disease
#17
Constanze Pfitzer, Paul C Helm, Lisa-Maria Rosenthal, Felix Berger, Ulrike M M Bauer, Katharina Rl Schmitt
We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014...
November 10, 2017: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29126655/incidence-of-infective-endocarditis-and-its-thromboembolic-complications-in-a-pediatric-population-over-30years
#18
K Thom, A Hanslik, J L Russell, S Williams, P Sivaprakasam, U Allen, C Male, L R Brandão
BACKGROUND: Pediatric infective endocarditis (IE) has been associated with high morbidity and mortality, mostly related to thromboembolic complications (TEC). The objective of our study was to describe the experience in children with IE and to review the changes over a thirty-year period, regarding origin of IE, incidence of vegetations, TEC and their respective morbidity and mortality rates. METHODS: A retrospective chart review of children aged 0-18years with IE defined by the Duke Criteria and admitted to The Hospital for Sick Children, was conducted...
November 7, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29122798/impact-of-prenatal-diagnosis-on-survival-of-newborns-with-four-congenital-heart-defects-a-prospective-population-based-cohort-study-in-france-the-epicard-study
#19
Babak Khoshnood, Nathalie Lelong, Lucile Houyel, Damien Bonnet, Morgane Ballon, Jean-Marie Jouannic, François Goffinet
OBJECTIVES: (1) Assess the population-level probability of prenatal diagnosis and termination of pregnancy for fetal anomaly for four major congenital heart defects; (2) Examine, using population-based data, the relation between timing of (prenatal vs postnatal) diagnosis and risk of infant (ie, < 1 year) mortality for four major congenital heart defects (CHDs). DESIGN: Population-based cohort (the EPIdémiologie des CARDiopathies congénitales) study. SETTING: Greater Paris area (Paris and its surrounding suburbs)...
November 8, 2017: BMJ Open
https://www.readbyqxmd.com/read/29120021/swiss-adult-congenital-heart-disease-registry-sacher-rationale-design-and-first-results
#20
Daniel Tobler, Markus Schwerzmann, Judith Bouchardy, Reto Engel, Dominik Stambach, Christine Attenhofer Jost, Kerstin Wustmann, Fabienne Schwitz, Tobias Rutz, Harald Gabriel, Hans Peter Kuen, Christoph Auf der Maur, Angela Oxenius, Theresa Seeliger, Bruno Santos Lopes, Francesca Bonassin, Matthias Greutmann, On Behalf Of Sacher
BACKGROUND: In 2013, a prospective registry for adults with congenital heart disease (CHD) was established in Switzerland, providing detailed data on disease characteristics and outcomes: Swiss Adult Congenital HEart disease Registry (SACHER). Its aim is to improve the knowledge base of outcomes in adults with CHD. The registry design and baseline patient characteristics are reported. METHODS: All patients with structural congenital heart defects or hereditary aortopathies, followed-up at dedicated adult CHD clinics, are asked to participate in SACHER...
November 9, 2017: Swiss Medical Weekly
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