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https://www.readbyqxmd.com/read/29333839/-pa%C3%A3-ister-kiuian-syndrome-in-a-mexican-mestizo-patient-case-report
#1
Paola Mendelsberg-Fishbein, Constanza García-Delgado, Linda B Muñoz-Martínez, Maura Robledo-Cayetano, Leonardo J Mejía-Marín, Luis E Martínez-Barrera, Mabel Cerrillo-Hinojosa, Verónica F Moran-Barroso
Pallister-Killian syndrome is caused by a tetrasomy 12p mosaicism and is characterized by facial dysmorphism, pigmentary skin anomalies, congenital heart defects, diaphragmatic hernia, epilepsy and mental retardation. The diagnosis is complex as the cytogenetic analysis in blood is usually normal, requiring karyotyping in other tissues, therefore the clinical suspicion is critical to guide the diagnostic tests and the patient requires an interdisciplinary clinical evaluation regarding the several manifestation of the syndrome...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29333814/morbidity-in-congenital-heart-surgery-in-a-public-hospital-in-argentina
#2
María Althabe, Ricardo Rodríguez R, María Balestrini, Alberto Charroqui, Mariela Krynski, Ana M Lenz, Mercedes Montonati, Guillermo Moreno, María L Pilan, Ricardo Magliola, Pablo García Delucis
OBJECTIVE: To describe the complications associated with heart surgery, compare them to a reference population, and identify mortality risk factors. PATIENTS AND METHODS: Retrospective and descriptive study. All patients who underwent surgery at Hospital Garrahan in the 2013-2015 period were included. Age, weight, procedure, mechanical ventilation, length of stay in days, morbidity, and course were recorded. Renal failure requiring dialysis, neurological deficit, permanent pacemaker, circulatory support, phrenic nerve or vocal cord palsy, reoperation, wound infection, chylothorax, and tracheotomy were considered morbidities...
February 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29332925/pulmonary-artery-pseudoaneurysm-secondary-to-lung-inf-lammation
#3
Shinichirou Ishimoto, Hiroyuki Sakurai, Ryouta Higure, Riken Kawachi, Mie Shimamura
Pulmonary artery aneurysms (PAA) and pseudoaneurysms (PAP) are caused by infections, vasculitis, trauma, pulmonary hypertension, congenital heart disease, and connective tissue disease. Most cases of such aneurysm occur in the trunk or major branches of the pulmonary artery, while the peripheral type is less common. The treatment modalities are medical therapy, surgery, and percutaneous catheter embolization. The mortality rate associated with rupture is approximately 50%. We encountered a case of a 53-year-old man with a pulmonary artery pseudoaneurysm secondary to pneumonia and cavity formation during chemotherapy for acute myeloid leukemia (AML)...
January 15, 2018: Annals of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29332913/early-extubation-in-the-operating-room-after-congenital-open-heart-surgery
#4
Takuma Fukunishi, Norihiko Oka, Takeshi Yoshii, Kensuke Kobayashi, Nobuyuki Inoue, Tetsuya Horai, Tadashi Kitamura, Hirotsugu Okamoto, Kagami Miyaji
Early extubation in the operating room after congenital open-heart surgery is feasible, but extubation in the intensive care unit after the operation remains common practice at many institutions. The purpose of this study was to evaluate retrospectively the adequacy of our early-extubation strategy and exclusion criteria through analysis based on the Risk Adjustment in Congenital Heart Surgery method (RACHS-1).This retrospective analysis included 359 cases requiring cardiopulmonary bypass (male, 195; female, 164; weight > 3...
January 15, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29332614/serelaxin-for-infant-heart-failure-in-congenital-dilated-cardiomyopathy
#5
Patrick O Myers, Alice Bordessoule, Cécile Tissot
Serelaxin has been studied in trials in adults with acute heart failure, but not in children. We report the first compassionate use of serelaxin in an infant. A 6-month-old girl with dilated cardiomyopathy was placed on extracorporeal membrane oxygenation following cardiac arrest unresponsive to medical treatment. Extracorporeal membrane oxygenation weaning failed despite maximal ino-dilator therapy. During the 48-hour infusion of serelaxin, we observed marked improvement in brain natriuretic peptide, left ventricular systolic function, and dilatation...
January 15, 2018: Cardiology in the Young
https://www.readbyqxmd.com/read/29332606/tricuspid-flow-and-regurgitation-in-congenital-heart-disease-and-pulmonary-hypertension-comparison-of-4d-flow-cardiovascular-magnetic-resonance-and-echocardiography
#6
Mieke M P Driessen, Marjolijn A Schings, Gertjan Tj Sieswerda, Pieter A Doevendans, Erik H Hulzebos, Marco C Post, Repke J Snijder, Jos J M Westenberg, Arie P J van Dijk, Folkert J Meijboom, Tim Leiner
BACKGROUND: Tricuspid valve (TV) regurgitation (TR) is a common complication of pulmonary hypertension and right-sided congenital heart disease, associated with increased morbidity and mortality. Estimation of TR severity by echocardiography and conventional cardiovasvular magnetic resonance (CMR) is not well validated and has high variability. 4D velocity-encoded (4D-flow) CMR was used to measure tricuspid flow in patients with complex right ventricular (RV) geometry and varying degrees of TR...
January 15, 2018: Journal of Cardiovascular Magnetic Resonance
https://www.readbyqxmd.com/read/29332214/targeted-next-generation-sequencing-in-patients-with-non-syndromic-congenital-heart-disease
#7
Silvia Pulignani, Cecilia Vecoli, Andrea Borghini, Ilenia Foffa, Lamia Ait-Alì, Maria Grazia Andreassi
Congenital heart disease (CHD) is a genetically heterogeneous disease. Targeted next-generation sequencing (NGS) offers a unique opportunity to sequence multiple genes at lower cost and effort compared to Sanger sequencing. We tested a targeted NGS of a specific gene panel in a relatively large population of non-syndromic CHD patients. The patient cohort comprised 68 CHD patients (45 males; 8.3 ± 1.7 years). Amplicon libraries for 16 CHD-strictly related genes were generated using a TruSeq® Custom Amplicon kit (Illumina, CA) and sequenced using the Illumina MiSeq platform...
January 13, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29331555/preoperative-thromboelastographic-profile-of-patients-with-congenital-heart-disease-association-of-hypercoagulability-and-decreased-heparin-response
#8
Zhe Amy Fang, Rachel Bernier, Sirisha Emani, Sitaram Emani, Gregory Matte, James A DiNardo, David Faraoni, Juan C Ibla
OBJECTIVE: To describe the demographic and thromboelastographic characteristics of patients with congenital heart disease presenting with decreased heparin response before cardiac surgery. DESIGN: Retrospective, observational study. SETTING: Single institution, tertiary, academic, university hospital. PARTICIPANTS: The study comprised 496 pediatric and adult patients undergoing cardiac surgery for congenital heart disease...
December 12, 2017: Journal of Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/29330935/takotsubo-cardiomyopathy-in-a-young-adult-with-transplanted-heart-what-happened-to-denervation
#9
Marcello Chinali, Roberto Formigari, Giorgia Grutter
This manuscript describes the first report of takotsubo cardiomyopathy in a young heart transplant recipient following angry debate. Our patient is a 21-year-old woman with cardiac transplant performed owing to right ventricular failure in congenital heart disease. Positive echocardiography with typical asymmetry of regional function, positive enzymes, and negative biopsy and angiography met the criteria for the diagnosis of takotsubo cardiomyopathy. Patient was discharged after 1 week in good clinical conditions and fully recovered cardiac function...
January 13, 2018: ESC Heart Failure
https://www.readbyqxmd.com/read/29330883/genotype-phenotype-correlations-in-individuals-with-pathogenic-rere-variants
#10
Valerie K Jordan, Brieana Fregeau, Xiaoyan Ge, Jessica Giordano, Ronald J Wapner, Tugce B Balci, Melissa T Carter, John A Bernat, Amanda N Moccia, Anshika Srivastava, Donna M Martin, Stephanie L Bielas, John Pappas, Melissa D Svoboda, Marlène Rio, Nathalie Boddaert, Vincent Cantagrel, Andrea M Lewis, Fernando Scaglia, Jennefer N Kohler, Jonathan A Bernstein, Annika M Dries, Jill A Rosenfeld, Colette DeFilippo, Willa Thorson, Yaping Yang, Elliott H Sherr, Weimin Bi, Daryl A Scott
Heterozygous variants in the arginine-glutamic acid dipeptide repeats gene (RERE) have been shown to cause neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH). Here we report nine individuals with NEDBEH who carry partial deletions or deleterious sequence variants in RERE. These variants were found to be de novo in all cases in which parental samples were available. An analysis of data from individuals with NEDBEH suggests that point mutations affecting the Atrophin-1 domain of RERE are associated with an increased risk of structural eye defects, congenital heart defects, renal anomalies and sensorineural hearing loss when compared to loss-of-function variants that are likely to lead to haploinsufficiency...
January 13, 2018: Human Mutation
https://www.readbyqxmd.com/read/29330638/predictors-of-severe-postoperative-hyperglycemia-after-cardiac-surgery-in-infants-a-single-center-retrospective-observational-study
#11
Natsuhiro Yamamoto, Tomoya Irie, Shunsuke Takaki, Osamu Yamaguchi, Takahisa Goto
PURPOSE: Hyperglycemia is a common issue in infants after cardiac surgery for congenital heart disease. Poor glycemic control is suspected to be associated with adverse postoperative outcomes. This study was performed to investigate clinical factors contributing to hyperglycemia in the perioperative period in infats. METHODS: A total of 69 infants (aged 1-12 months) who were admitted to Yokohama City University Hospital Intensive Care Unit (ICU) after surgical repair of congenital heart diseases with cardiopulmonary bypass (CPB) were retrospectively analysed...
January 12, 2018: Journal of Anesthesia
https://www.readbyqxmd.com/read/29330259/limited-accuracy-of-administrative-data-for-the-identification-and-classification-of-adult-congenital-heart-disease
#12
Abigail Khan, Katrina Ramsey, Cody Ballard, Emily Armstrong, Luke J Burchill, Victor Menashe, George Pantely, Craig S Broberg
BACKGROUND: Administrative data sets utilize billing codes for research and quality assessment. Previous data suggest that such codes can accurately identify adults with congenital heart disease (CHD) in the cardiology clinic, but their use has yet to be validated in a larger population. METHODS AND RESULTS: All administrative codes from an entire health system were queried for a single year. Adults with a CHD diagnosis code (International Classification of Diseases, Ninth Revision, (ICD-9) codes 745-747) defined the cohort...
January 12, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29329764/-analysis-of-mortality-and-hospital-stay-in-cardiac-surgery-in-mexico-2015-data-from-the-national-cardiology-institute
#13
Alejandra Rodríguez-Hernández, Martha García-Torres, Eduardo Bucio Reta, Francisco Martín Baranda-Tovar
OBJECTIVE: To analyse hospital mortality in patients subjected to cardiac surgery in Mexico during the year 2015, and identify the mortality risks factors, and its correlation with days of hospital stay in the cardiovascular intensive care unit. METHOD: The database of Cardiovascular Intensive Care of the National Institute of Cardiology was examined for this cases and controls study that included only adult patients subjected to cardiac surgery during the year 2015...
January 9, 2018: Archivos de Cardiología de México
https://www.readbyqxmd.com/read/29329527/emotional-and-cognitive-experiences-during-the-time-of-diagnosis-and-decision-making-following-a-prenatal-diagnosis-a-qualitative-study-of-males-presented-with-congenital-heart-defect-in-the-fetus-carried-by-their-pregnant-partner
#14
Tommy Carlsson, Elisabet Mattsson
BACKGROUND: Expectant fathers consider the second-trimester obstetric ultrasound examination as an important step towards parenthood, but are ill prepared for a detection of a fetal anomaly. Inductive research is scarce concerning their experiences and needs for support. Consequently, the aim of this study was to explore the emotional and cognitive experiences, during the time of diagnosis and decision-making, among males presented with congenital heart defect in the fetus carried by their pregnant partner...
January 12, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29329523/early-commitment-of-cardiovascular-autonomic-modulation-in-brazilian-patients-with-congenital-generalized-lipodystrophy
#15
Clarisse Mourão Melo Ponte, Virgínia Oliveira Fernandes, Maria Helane Costa Gurgel, Izabella Tamira Galdino Farias Vasconcelos, Lia Beatriz de Azevedo Souza Karbage, Christiane Bezerra Rocha Liberato, Carlos Antônio Negrato, Marília de Brito Gomes, Ana Paula Dias Rangel Montenegro, Renan Magalhães Montenegro Júnior
BACKGROUND: Metabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of the present study was to determine the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with CGL compared with individuals with type 1 diabetes and healthy subjects. METHODS: Ten patients with CGL, 20 patients with type 1 diabetes and 20 healthy subjects were included in the study...
January 12, 2018: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29329440/executive-function-and-internalizing-symptoms-in-adolescents-and-young-adults-with-congenital-heart-disease-the-role-of-coping
#16
Jamie L Jackson, Gina M Gerardo, Jennifer D Monti, Kyle A Schofield, Kathryn Vannatta
Executive functioning deficits have been documented among congenital heart disease (CHD) survivors and may contribute to emotional distress. Little research has investigated the role of coping in this association. This study examined the role of coping in accounting for the association between self-reported executive function problems and internalizing symptoms among adolescents and emerging adults (AEAs), as well as young adults (YAs) with CHD. Participants included 74 AEA ( M age  = 19.32  ±  3.47 years, range 15-25 years) and 98 YA CHD survivors ( M age  = 32...
January 10, 2018: Journal of Pediatric Psychology
https://www.readbyqxmd.com/read/29329432/cardiac-surgical-strategy-for-extremely-low-birthweight-infants-with-pulmonary-overcirculation
#17
Takashi Kido, Kyoichi Nishigaki, Yoichi Kawahira, Koji Kagisaki, Kazuki Tanimoto, Eiji Ehara, Yosuke Murakami
OBJECTIVES: This study aimed to review the clinical outcomes of staged cardiac surgery in extremely low-birthweight infants with congenital heart disease and pulmonary overcirculation. METHODS: Six extremely low-birthweight infants with congenital heart disease and pulmonary overcirculation underwent staged cardiac surgery between 2005 and 2017. The median birthweight was 895 g (range 620-990 g), and the median gestational age was 28 weeks (range 23-31 weeks)...
January 9, 2018: Interactive Cardiovascular and Thoracic Surgery
https://www.readbyqxmd.com/read/29327893/heart-failure-in-grown-up-congenital-heart-disease
#18
Alessia Faccini, Angelo Micheletti, Diana G Negura, Luca Giugno, Gianfranco Butera, Mario Carminati, Alessandro Giamberti, Massimo Chessa
The increasing survival in the adulthood of patients with congenital heart disease (CHD) has changed the epidemiology of adult CHD (ACHD) patients and has led to an increment in hospitalization rates due to heart failure (HF). ACHD patients hospitalized for HF have a five-fold higher risk of death HF than those compensated. HF occurs predominantly in patients with tetralogy of Fallot, single ventricles, and after the Mustard operation for transposition of the great arteries. Diagnostic strategies applied in acquired HF patients are usually used to evaluate ACHD patients, but sometimes this can postpone the identification of HF that can become manifest with unusual and peculiar signs or symptoms...
January 10, 2018: Minerva Cardioangiologica
https://www.readbyqxmd.com/read/29327140/children-s-experiences-of-congenital-heart-disease-a-systematic-review-of-qualitative-studies
#19
REVIEW
Lauren S H Chong, Dominic A Fitzgerald, Jonathan C Craig, Karine E Manera, Camilla S Hanson, David Celermajer, Julian Ayer, Nadine A Kasparian, Allison Tong
We aimed to describe the experiences of children and adolescents with congenital heart disease (CHD). Electronic databases were searched until August 2016. Qualitative studies of children's perspectives on CHD were included. Data was extracted using thematic synthesis. From 44 studies from 12 countries involving 995 children, we identified 6 themes: disrupting normality (denying the diagnosis, oscillating between sickness and health, destabilizing the family dynamic), powerlessness in deteriorating health (preoccupation with impending mortality, vulnerability to catastrophic complications, exhaustion from medical testing), enduring medical ordeals (traumatized by invasive procedures, disappointed by treatment failure, displaced by transition, valuing empathy and continuity in care, overcoming uncertainty with information), warring with the body (losing stamina, distressing inability to participate in sport, distorted body image, testing the limits), hampering potential and goals (feeling disabled, unfair judgment and exclusion, difficulties with academic achievement, limiting attainment and maintenance of life milestones), and establishing one's own pace (demarcating disease from life, determination to survive, taking limitations in their stride, embracing the positives, finding personal enrichment, relying on social or spiritual support)...
January 11, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29327115/investigation-of-an-appropriate-contrast-enhanced-ct-protocol-for-young-patients-following-the-fontan-operation
#20
Motoo Nakagawa, Yoshiyuki Ozawa, Norikazu Nomura, Sachiko Inukai, Ayano Shiba, Keita Sakurai, Masashi Shimohira, Yuta Shibamoto
PURPOSE: Children with congenital heart diseases (CHDs) may need to be followed up with contrast-enhanced CT following the Fontan operation because complications such as the occlusion of conduits may occur. The purpose of the present study was to develop an adequate contrast-enhanced CT protocol for children with CHD following the Fontan operation. MATERIALS AND METHODS: Between July 2012 and July 2017, 29 CT examinations for 26 patients aged 2-11 years (median 5 years) with CHD following the Fontan operation were performed using dual-source CT...
January 11, 2018: Japanese Journal of Radiology
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