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Congenital heart defect

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https://www.readbyqxmd.com/read/29160022/first-prenatal-diagnosis-of-a-pure-9q34-3-deletion-kleefstra-syndrome-a-case-report-and-literature-review
#1
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
#2
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
#3
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/29152920/using-state-birth-defects-registries-to-evaluate-regional-critical-congenital-heart-disease-newborn-screening
#4
Amy Peterson Case, Stephanie D Miller, Monica R McClain
BACKGROUND: Most states have now passed legislation mandating pulse oximetry for all newborns, or have promulgated regulations or guidelines to encourage use of routine pulse oximetry. State-based birth defects registries may be well positioned to track and evaluate critical congenital heart disease (CCHD) screening coverage and outcomes. This purpose of this study was to determine: (1) the proportion of cases detected by screening, (2) health services use by children with CCHDs during the first year of life, and (3) mortality outcomes...
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
#5
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
#6
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
#7
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
#8
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
#9
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/29141329/-association-between-illness-and-mental-status-in-pregnant-women-and-birth-defects
#10
D D Zhao, Y X Dai, L Q Guo, R Liu, H L Wang, B B Mi, S N Dang, H Yan
Objective: To understand the prevalence of birth defects, related diseases and mental status of women during pregnancy in Shaanxi province and to analyse the major risk factors on birth defects and congenital heart disease. Possible association between maternal diseases or mental status and the risk of birth defects, was also explored. Methods: A cross-sectional design was used in this study and stratified multistage random sampling method was used. The whole survey was from Jury 2013 to November 2013. Logistic regression method was used to analyze the association between maternal diseases, mental status during pregnancy and birth defects...
November 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
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/29136563/generation-of-human-ipsc-line-from-a-patient-with-laterality-defects-and-associated-congenital-heart-anomalies-carrying-a-dand5-missense-alteration
#14
Fernando Cristo, José M Inácio, Graça Rosas, Isabel Marques Carreira, Joana Barbosa Melo, Luís Pereira de Almeida, Patrícia Mendes, Duarte Saraiva Martins, José Maio, Rui Anjos, José A Belo
A human iPSC line was generated from exfoliated renal epithelial (ERE) cells of a patient affected with Congenital Heart Disease (CHD) and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro...
October 31, 2017: Stem Cell Research
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
#15
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/29134535/current-status-of-cardiovascular-surgery-in-japan-2013-and-2014-a%C3%A2-report-based-on-the-japan-cardiovascular-surgery-database-2-congenital-heart-surgery
#16
Yasutaka Hirata, Norimichi Hirahara, Arata Murakami, Noboru Motomura, Hiroaki Miyata, Shinichi Takamoto
OBJECTIVES: We analyzed the mortality and morbidity of congenital heart surgery in Japan using the Japan Cardiovascular Surgery Database (JCVSD). METHODS: Data regarding congenital heart surgery performed between January 2013 and December 2014 were obtained from JCVSD. The 20 most frequent procedures were selected and the mortality rates and major morbidities were analyzed. RESULTS: The mortality rates of atrial septal defect repair and ventricular septal defect repair were less than 1%, and the mortality rates of tetralogy of Fallot repair, complete atrioventricular septal defect repair, bidirectional Glenn, and total cavopulmonary connection were less than 2%...
November 13, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29131284/usefulness-of-cutting-balloon-angioplasty-for-the-treatment-of-congenital-heart-defects
#17
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
#18
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/29129255/regional-variation-in-quality-of-life-in-patients-with-a-fontan-circulation-a-multinational-perspective
#19
Nicholas D Fogleman, Silke Apers, Philip Moons, Stacey Morrison, Samuel G Wittekind, Martha Tomlin, Kathy Gosney, Maayke A Sluman, Bengt Johansson, Junko Enomoto, Mikael Dellborg, Chun-Wei Lu, Raghavan Subramanyan, Koen Luyckx, Werner Budts, Jamie Jackson, Adrienne Kovacs, Alexandra Soufi, Katrine Eriksen, Corina Thomet, Malin Berghammer, Edward Callus, Susan M Fernandes, Maryanne Caruana, Stephen C Cook, Andrew S Mackie, Kamila S White, Paul Khairy, Shelby Kutty, Gruschen Veldtman
BACKGROUND: Impaired quality of life (QOL) is associated with congenital heart disease (CHD) and country of residence; however, few studies have compared QOL in patients with differing complexities of CHD across regional populations. The current study examined regional variation in QOL outcomes in a large multinational sample of patients with a Fontan relative to patients with atrial septal defects (ASDs) and ventricular septal defects (VSDs). METHODS: From the Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study (APPROACH-IS), 405 patients (163 Fontan and 242 ASD/VSD) across Asia, Europe, and North America provided consent for access to their medical records and completed a survey evaluating QOL (0 to 100 linear analog scale)...
November 2017: American Heart Journal
https://www.readbyqxmd.com/read/29127498/dynamics-in-prevalence-of-down-syndrome-in-children-with-congenital-heart-disease
#20
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
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