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Congenital heart diseases

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https://www.readbyqxmd.com/read/28726068/cardiac-complications-of-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#1
REVIEW
D Marques-da-Silva, R Francisco, D Webster, V Dos Reis Ferreira, J Jaeken, T Pulinilkunnil
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways...
July 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28725922/genetic-testing-protocol-reduces-costs-and-increases-rate-of-genetic-diagnosis-in-infants-with-congenital-heart-disease
#2
Gabrielle C Geddes, Donald Basel, Peter Frommelt, Aaron Kinney, Michael Earing
Genetic testing is routinely performed on infants with critical congenital heart disease (CHD). This project reviewed the effect of implementing a genetic testing protocol in this population. Charts of infants with critical CHD were reviewed for genetic testing and results across two time periods: the time before implementation of a genetic testing protocol (pre-protocol) and the time after implementation (post-protocol). The use of karyotype, 22q11.2 Deletion testing, and chromosomal microarray were compared across these two time periods...
July 19, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28723882/altered-carnitine-homeostasis-in-children-with-increased-pulmonary-blood-flow-due-to-ventricular-septal-defects
#3
Stephen M Black, Aida Field-Ridley, Shruti Sharma, Sanjiv Kumar, Roberta L Keller, Rebecca Kameny, Emin Maltepe, Sanjeev A Datar, Jeffrey R Fineman
OBJECTIVES: Congenital heart disease with increased pulmonary blood flow results in progressive pulmonary vascular endothelial dysfunction and associated increased perioperative morbidity. Using our ovine model of congenital heart disease with increased pulmonary blood flow, we have previously demonstrated progressive endothelial dysfunction associated with disruption in carnitine homeostasis, mitochondrial dysfunction, decreased nitric oxide signaling, and enhanced reactive oxygen species generation...
July 18, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28720136/bilateral-multiple-pulmonary-artery-aneurysms-associated-with-cavitary-pulmonary-tuberculosis-a-case-report
#4
Pedro Pallangyo, Frederick Lyimo, Smita Bhalia, Hilda Makungu, Bashir Nyangasa, Flora Lwakatare, Pal Suranyi, Mohamed Janabi
BACKGROUND: Pulmonary artery aneurysms constitute <1% of aneurysms occurring in the thoracic cavity. Congenital cardiac defects are responsible for the majority (>50%) of cases, however, pulmonary artery aneurysm is a rare sequelae of pulmonary tuberculosis reported in about 5% of patients with chronic cavitary tuberculosis on autopsy. The natural history of this potentially fatal condition remains poorly understood and guidelines for optimal management are controversial. CASE PRESENTATION: A 24-year-old man, a nursing student of African descent, was referred to us from an up-country regional hospital with a 4-week history of recurrent episodes of breathlessness, awareness of heartbeats and coughing blood 3 weeks after completing a 6-month course of anti-tuberculosis drugs...
July 19, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28720027/long-term-alteration-of-the-hypothalamic-pituitary-adrenal-axis-in-children-undergoing-cardiac-surgery-in-the-first-6-months-of-life
#5
Monica McGauran, Brigid Jordan, Roseriet Beijers, Irma Janssen, Candice Franich-Ray, Carolina de Weerth, Michael Cheung
Children with congenital heart disease (CHD) have poorer neurodevelopmental and psychological outcomes. The mechanisms underlying this remain unclear. One mechanism could be that the stressful experience of cardiac surgery early in life influences long-term hypothalamic-pituitary-adrenal (HPA) axis regulation. Dysregulation of the HPA axis has been linked to poorer neurocognitive and psychological outcomes in other study populations. This case-control study aims to compare HPA-axis regulation (circadian rhythm and reactivity) using salivary cortisol in 3- to 5-year-olds with CHD who did and did not have cardiac surgery prior to 6 months of age...
July 18, 2017: Stress: the International Journal on the Biology of Stress
https://www.readbyqxmd.com/read/28719706/bilateral-second-branchial-cleft-fistulae-in-a-boy-with-congenital-heart-disease
#6
Yi-Fang Lee, En-Li Shiau
No abstract text is available yet for this article.
July 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28719389/genetic-contribution-to-neurodevelopmental-outcomes-in-congenital-heart-disease-are-some-patients-predetermined-to-have-developmental-delay
#7
Caitlin K Rollins, Jane W Newburger, Amy E Roberts
PURPOSE OF REVIEW: Neurodevelopmental impairment is common in children with moderate to severe congenital heart disease (CHD). As children live longer and healthier lives, research has focused on identifying causes of neurodevelopmental morbidity that significantly impact long-term quality of life. This review will address the role of genetic factors in predicting neurodevelopmental outcome in CHD. RECENT FINDINGS: A robust literature suggests that among children with various forms of CHD, those with known genetic/extracardiac anomalies are at highest risk of neurodevelopmental impairment...
July 14, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28719142/changing-prevalence-of-severe-congenital-heart-disease-results-from-the-national-register-for-congenital-heart-defects-in-germany
#8
Constanze Pfitzer, Paul C Helm, Hannah Ferentzi, Lisa-Maria Rosenthal, Ulrike M M Bauer, Felix Berger, Katharina R L Schmitt
OBJECTIVE: To assess the prevalence of congenital heart disease (CHD) in Germany in relation to phenotypes, severity and gender. DESIGN: Cross-sectional registry study. SETTING: We analyzed data from patients with CHD born between 1996 and 2015. PATIENTS: A total of 26 630 patients, registered with the NRCHD, were born between 1996 and 2015. 10 927 patients were excluded from the current analysis due to prior registration with the NRCHD under the German PAN Prevalence Study, which showed a potential bias in the inclusion of this patient population (proportion of mild cardiac lesions was comparatively high due to improved diagnostic capability for earlier identifying minor lesions)...
July 18, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28719069/inaccuracy-of-a-continuous-arterial-pressure-waveform-monitor-when-used-for-congenital-cardiac-catheterization
#9
Michael D Seckeler, Katri Typpo, Jendar Deschenes, Ruth Higgins, Ricardo Samson, Peter Lichtenthal
OBJECTIVE: To determine the accuracy of a continuous cardiac output monitor (FloTrac sensor) for measuring cardiac index in children with congenital heart disease undergoing cardiac catheterization. Cardiac index is a critical hemodynamic parameter measured during catheterizations in children with congenital heart disease. This has been challenging to measure accurately and many clinicians rely on predictive equations for calculating cardiac index. DESIGN: Prospective, nonrandomized trial...
July 18, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28716564/endothelial-to-mesenchymal-transition-in-the-cardiovascular-system
#10
REVIEW
Hui Gong, Xing Lu, Qiong Wang, Min Hu, Xiangyu Zhang
Endothelial to mesenchymal transition (EndMT) is a special type of epithelial to mesenchymal transition. It is a process that is characterized by the loss of features of endothelial cells and acquisition of specific markers of mesenchymal cells. A variety of stimuli, such as inflammation, growth factors, and hypoxia, regulate EndMT through various signaling pathways and intracellular transcription factors. It has been demonstrated that epigenetic modifications are also involved in this process. Recent studies have identified the essential role of EndMT in the cardiovascular system...
July 14, 2017: Life Sciences
https://www.readbyqxmd.com/read/28713984/downregulation-of-microrna%C3%A2-199a%C3%A2-5p-protects-cardiomyocytes-in-cyanotic-congenital-heart-disease-by-attenuating-endoplasmic-reticulum-stress
#11
Yang Zhou, Wei-Kun Jia, Zhao Jian, Liang Zhao, Chen-Cheng Liu, Yong Wang, Ying-Bin Xiao
Chronic hypoxia is a key pathological change in patients with cyanotic congenital heart defect (CCHD). It has been demonstrated that enhanced myocardial unfolded protein response (UPR) increases the capacity to buffer endoplasmic reticulum (ER) stress and to avoid subsequent apoptosis caused by the hypoxia that underlies CCHD. The present study was performed to determine the regulatory role of microRNAs (miRNAs) in this cytoprotective UPR process. The results revealed that miR‑199a‑5p was markedly downregulated in the cardiac tissue of patients with CCHD and in human myocardial cells cultured in hypoxic conditions...
July 6, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28711967/fate-of-duct-dependent-discontinuous-pulmonary-arteries-after-arterial-duct-stenting
#12
Giuseppe Santoro, Giovanbattista Capozzi, Mario Giordano, Gianpiero Gaio, Maria Teresa Palladino, Carola Iacono, Heba Talat Mahmoud, Maria Giovanna Russo
Significant and balanced PA growth following arterial duct (AD) stenting has already been consistently reported in literature. However, to date, no data are available about the role of this approach as palliation of congenital heart disease with a duct-dependent discontinuous pulmonary artery (dPA). The aim of this study was to evaluate the fate of a dPA of ductal origin following trans-catheter AD stabilization. Angiographic PA evaluation was performed in seven patients submitted to neonatal AD stenting as palliative recruitment of dPA...
July 15, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28711965/efficacy-of-an-extracellular-matrix-in-systemic-loading-conditions-in-congenital-heart-surgery
#13
Adeel Ashfaq, Amit Iyengar, Oh Jin Kwon, Mohammad S Soroya, Son Nguyen, Ryan Ou, Brian Reemtsen
Extracellular matrices (ECM) are commonly used to repair congenital heart defects; however, there is a lack of literature pertaining to outcomes with ECM use in high-pressure conditions. Between 2011 and 2014, a total of 202 patients underwent congenital heart disease repair using the ECM placed in a systemic pressure condition. The operative sites included: defects in the ventricular septum, mitral valve, aortic valve, ascending aorta, and aortic arch. Patients were followed and evaluated for mortality and reoperations due to loss of ECM integrity...
July 15, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28711963/transfer-of-neonates-with-critical-congenital-heart-disease-within-a-regionalized-network
#14
Michael F Swartz, Jill M Cholette, Jennifer M Orie, Marshall L Jacobs, Jeffrey P Jacobs, George M Alfieris
Regionalization of pediatric cardiac surgical care varies between and within states. In most geographic regions, at least some neonates with critical heart disease are transferred from their birth hospital to a different hospital for surgery. The impact of neonatal transfer for surgery, particularly over a considerable distance (>10 miles), has been largely unexplored. We sought to examine the impact of transferring neonates for cardiac surgery. We queried the New York State Cardiac Surgery database (2005-2014) from a single institution to identify neonates born within the cardiac surgery center and those transferred for surgery...
July 15, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28711428/-congenital-heart-disease-mortality-in-spain-during-a-10-year-period-2003-2012
#15
Javier Pérez-Lescure Picarzo, Margarita Mosquera González, Pello Latasa Zamalloa, David Crespo Marcos
INTRODUCTION AND OBJECTIVES: Congenital heart disease is a major cause of infant mortality in developed countries. In Spain, there are no publications at national level on mortality due to congenital heart disease. The aim of this study is to analyse mortality in infants with congenital heart disease, lethality of different types of congenital heart disease, and their variation over a ten-year period. METHODS: A retrospective observational study was performed to evaluate mortality rate of children under one year old with congenital heart disease, using the minimum basic data set, from 2003 to 2012...
July 12, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28710297/association-of-surgeon-age-and-experience-with-congenital-heart-surgery-outcomes
#16
Brett R Anderson, Amelia S Wallace, Kevin D Hill, Brian C Gulack, Roland Matsouaka, Jeffrey P Jacobs, Emile A Bacha, Sherry A Glied, Marshall L Jacobs
BACKGROUND: Surgeon experience concerns both families of children with congenital heart disease and medical providers. Relationships between surgeon seniority and patient outcomes are often assumed, yet there are little data. METHODS AND RESULTS: This national study used linked data from the American Medical Association Physician Masterfile and the Society of Thoracic Surgeons-Congenital Heart Surgery Database to examine associations between surgeon years since medical school and major morbidity/mortality for children undergoing cardiac surgery...
July 2017: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/28709919/morbidity-after-cardiac-surgery-in-patients-with-adult-congenital-heart-disease-in-comparison-with-acquired-disease
#17
Dimos Karangelis, Amine Mazine, Sreekanth Narsupalli, Shamarli Mendis, Gruschen Veldtman, Nicolas Nikolaidis
BACKGROUND: Due to the advancements in congenital cardiac surgery and interventional cardiology in the last five decades, more than 85% of congenital heart patients now survive to adulthood. METHODS: This retrospective study included 135 Adult Congenital Heart Disease (ACHD) patients, who had cardiac surgery at Southampton General Hospital over three consecutive years. We also included 42 patients with a structurally normal heart who had cardiac surgery for acquired cardiac conditions as a control group...
June 28, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28709760/clinical-and-pathologic-implications-of-extending-the-spectrum-of-maternal-autoantibodies-reactive-with-ribonucleoproteins-associated-with-cutaneous-and-now-cardiac-neonatal-lupus-from-ssa-ro-and-ssb-la-to-u1rnp
#18
REVIEW
Peter M Izmirly, Marc K Halushka, Avi Z Rosenberg, Sean Whelton, Khodayar Rais-Bahrami, Dilip S Nath, Hilary Parton, Robert M Clancy, Sara Rasmussen, Amit Saxena, Jill P Buyon
While the relationship between maternal connective tissue diseases and neonatal rashes was described in the 1960s and congenital heart block in the 1970s, the "culprit" antibody reactivity to the SSA/Ro-SSB/La ribonucleoprotein complex was not identified until the 1980s. However, studies have shown that approximately 10-15% of cases of congenital heart block are not exposed to anti-SSA/Ro-SSB/La. Whether those cases represent a different disease entity or whether another antibody is associated has yet to be determined...
July 11, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/28709660/effect-of-gastrointestinal-malformations-on-the-outcomes-of-patients-with-congenital-heart-disease
#19
Carlos M Mery, Luis E De León, J Rubén Rodriguez, R Michael Nieto, Wei Zhang, Iki Adachi, Jeffrey S Heinle, Lauren C Kane, E Dean McKenzie, Charles D Fraser
BACKGROUND: The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. METHODS: Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group...
July 11, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28709631/neurodevelopmental-profiles-of-children-with-congenital-heart-disease-at-school-age
#20
Nadja Naef, Rabia Liamlahi, Ingrid Beck, Vera Bernet, Hitendu Dave, Walter Knirsch, Beatrice Latal
OBJECTIVES: To assess 6-year neurodevelopmental outcomes in a current cohort of children with congenital heart disease (CHD) who underwent cardiopulmonary bypass surgery (CPB), and to determine risk factors for adverse outcomes. STUDY DESIGN: Outcomes were examined in 233 prospectively enrolled children with CHD (including 64 with a recognized genetic disorder) who underwent CPB between 2004 and 2009. Follow-up assessment included standardized neurologic, motor, and cognitive tests...
July 11, 2017: Journal of Pediatrics
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