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Congenital heart defect

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https://www.readbyqxmd.com/read/28641300/prenatal-diagnosis-of-dextrocardia-with-complex-congenital-heart-disease-using-fetal-intelligent-navigation-echocardiography-fine-and-a-literature-review
#1
Lami Yeo, Suchaya Luewan, Dor Markush, Navleen Gill, Roberto Romero
Fetal dextrocardia is a type of cardiac malposition where the major axis from base to apex points to the right side. This condition is usually associated with a wide spectrum of complex cardiac defects. As a result, dextrocardia is conceptually difficult to understand and diagnose on prenatal ultrasound. The advantage of four-dimensional sonography with spatiotemporal image correlation (STIC) is that this modality can facilitate fetal cardiac examination. A novel method known as fetal intelligent navigation echocardiography (FINE) allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying intelligent navigation technology to STIC volume datasets...
June 23, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#2
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28628610/outcome-of-cardiac-surgery-in-patients-with-congenital-heart-disease-in-england-between-1997-and-2015
#3
Aleksander Kempny, Konstantinos Dimopoulos, Anselm Uebing, Gerhard-Paul Diller, Ulrich Rosendahl, George Belitsis, Michael A Gatzoulis, Stephen J Wort
BACKGROUND: The number of patients with congenital heart disease (CHD) is increasing worldwide and most of them will require cardiac surgery, once or more, during their lifetime. The total volume of cardiac surgery in CHD patients at a national level and the associated mortality and predictors of death associated with surgery are not known. We aimed to investigate the surgical volume and associated mortality in CHD patients in England. METHODS: Using a national hospital episode statistics database, we identified all CHD patients undergoing cardiac surgery in England between 1997 and 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28627006/parents-perceptions-during-the-transition-to-home-for-their-child-with-a-congenital-heart-defect-how-can-we-support-families-of-children-with-hypoplastic-left-heart-syndrome
#4
Sarita March
PURPOSE: The aim of the study was to explore the literature related to transitions in healthcare between the hospital and home that caregivers experience with a child who has a congenital heart defect (CHD), specifically related to hypoplastic left heart syndrome (HLHS). DESIGN AND METHODS: A systematic literature review was conducted searching OVID Medline, CINAHL, and PubMed to discover the caregivers' perceptions on their transitions between hospital care and home care of their child with a CHD...
June 18, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#5
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28624838/dental-management-of-pediatric-patients-affected-by-pulmonary-atresia-with-ventricular-septal-defect-a-scoping-review
#6
A Garrocho-Rangel, A-C Echavarría-García, M-A Rosales-Bérber, J Flores-Velázquez, A Pozos-Guillén
BACKGROUND: Congenital Heart Diseases (CHD) involves a wide range of pathological conditions, such as Pulmonary Atresia with Ventricle Septal Defect (PA/VSD). This disorder leads to the systemic circulation of oxygen-poor blood (cyanosis), with associated features and consequences in the oral cavity. MATERIAL AND METHODS: Using scoping review methodology for screening and article selection, the primary objectives of this paper were as follows: first, to pose a research question; second, to identify relevant studies in order to answer the research question; third, to select and retrieve the studies; fourth, to chart the critical data, and finally, to collate, summarize, and report the results from the most important articles on the dental management of children affected with PA/VSD...
June 18, 2017: Medicina Oral, Patología Oral y Cirugía Bucal
https://www.readbyqxmd.com/read/28624249/the-role-of-3-d-heart-models-in-planning-and-executing-interventional-procedures
#7
REVIEW
Elena K Grant, Laura J Olivieri
Percutaneous interventions aimed at addressing congenital and structural heart disease are simultaneously becoming more common and more complex as time progresses. An increasing number of heart defects that had previously required open heart surgery can now be successfully addressed in the cardiac catheterization laboratory. Adequate preprocedural preparation for these novel, complex procedures is critical to ensure their success. Diagnostic data can be collected before the intervention and displayed in multiple formats during the procedure...
February 24, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28620608/a-path-to-implement-precision-child-health-cardiovascular-medicine
#8
REVIEW
Marlin Touma, Brian Reemtsen, Nancy Halnon, Juan Alejos, J Paul Finn, Stanley F Nelson, Yibin Wang
Congenital heart defects (CHDs) affect approximately 1% of live births and are a major source of childhood morbidity and mortality even in countries with advanced healthcare systems. Along with phenotypic heterogeneity, the underlying etiology of CHDs is multifactorial, involving genetic, epigenetic, and/or environmental contributors. Clear dissection of the underlying mechanism is a powerful step to establish individualized therapies. However, the majority of CHDs are yet to be clearly diagnosed for the underlying genetic and environmental factors, and even less with effective therapies...
2017: Frontiers in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28616537/congenital-arch-vessel-anomalies-in-charge-syndrome-a-frequent-feature-with-risk-for-co-morbidity
#9
Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
BACKGROUND: CHARGE syndrome is a complex multiple congenital malformation disorder with variable expression that is caused by mutations in the CHD7 gene. Variable heart defects occur in 74% of patients with a CHD7 mutation, with an overrepresentation of atrioventricular septal defects and conotruncal defects - including arch vessel anomalies. METHODS AND RESULTS: We report an index patient with an arch vessel anomaly underlying serious feeding problems that resolved after arch vessel surgery...
September 2016: IJC Heart & Vasculature
https://www.readbyqxmd.com/read/28616342/bicuspid-aortic-valve-syndrome-a-multidisciplinary-approach-for-a-complex-entity
#10
REVIEW
María Martín, Rebeca Lorca, José Rozado, Rubén Alvarez-Cabo, Juan Calvo, Isaac Pascual, Helena Cigarrán, Isabel Rodríguez, César Morís
Bicuspid aortic valve (BAV) or bicuspid aortopathy is the most common congenital heart disease. It can be clinically silent and it is often identified as an incidental finding in otherwise healthy, asymptomatic patients. However, it can be dysfunctioning at birth, even requiring neonatal intervention, or, in time, lead to aortic stenosis, aortic insufficiency, and endocarditis, and also be associated with aortic aneurysm and aortic dissection. Given its prevalence and significant complications, it is estimated that BAV is responsible for more deaths and morbidity than the combined effects of all the other congenital heart defects...
May 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28616089/severe-pulmonary-arterial-hypertension-associated-with-congenital-cardiac-shunts-evolution-under-specific-treatment
#11
R I Negoi, I Ghiorghiu, F Filipoiu, M Hostiuc, I Negoi, C Ginghina
Objective: The aim of this study was to compare the effects of Sildenafil, Bosentan and combined therapy in patients with congenital cardiac shunts associated pulmonary artery hypertension (CCS-PAH). Design: Prospective observational study (February 2011 - January 2014) with a historical control group (January 2009 - January 2011). Setting: "CC Iliescu" Institute for Emergency Cardiovascular Diseases of Bucharest, a tertiary university-affiliated center. Patients: All cases with CCS-PAH. Interventions: Specific vasodilatory therapy: Sildenafil, Bosentan or combined therapy...
April 2017: Journal of Medicine and Life
https://www.readbyqxmd.com/read/28615173/risk-of-major-congenital-malformations-in-relation-to-maternal-overweight-and-obesity-severity-cohort-study-of-1-2-million-singletons
#12
Martina Persson, Sven Cnattingius, Eduardo Villamor, Jonas Söderling, Björn Pasternak, Olof Stephansson, Martin Neovius
Objective To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) <18.5), overweight (BMI 25 to <30), or in obesity classes I (BMI 30 to <35), II (35 to <40), or III (≥40) compared with offspring of normal weight mothers (BMI 18.5 to <25) in early pregnancy.Design Population based cohort study.Setting Nationwide Swedish registries.Participants 1 243 957 liveborn singleton infants from 2001 to 2014 in Sweden. Data on maternal and pregnancy characteristics were obtained by individual record linkages...
June 14, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28615160/nkx2-5-is-essential-to-establish-normal-heart-rate-variability-in-the-zebrafish-embryo
#13
Jamie K Harrington, Robert Sorabella, Abigail Tercek, Joseph R Isler, Kimara L Targoff
Heart rate variability (HRV) has become an important clinical marker of cardiovascular health and a research measure for the study of the cardiac conduction system and its autonomic controls. While zebrafish (Danio rerio) is an ideal vertebrate model for understanding heart development, HRV has only recently been investigated in this system. We have previously demonstrated that nkx2.5 and nkx2.7, two homologues of Nkx2-5 expressed in zebrafish cardiomyocytes, play vital roles in maintaining cardiac chamber-specific characteristics...
June 14, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/28612622/pediatric-nurses-perception-of-support-for-families-with-children-with-congenital-heart-defects
#14
Elisabeth Bruce, Karin Sundin
The purpose of this study was to illuminate pediatric nurses' (PNs) perceptions of support for families with a child with a congenital heart defect. The study used a qualitative design with narrative interviews with eight PNs in Northern Sweden, and the interview data were analyzed with content analysis. The analysis revealed that the nurses perceive that letting the parents be involved in their child's care is of great importance in supporting the families. Although they have a paternalistic attitude to the families, they also stated that nurses should inform the parents about the care of the child, create a good relationship with the family, and build trust among all parties involved...
June 1, 2017: Clinical Nursing Research
https://www.readbyqxmd.com/read/28611552/a-novel-mutation-in-pitx2-in-a-patient-with-axenfeld-rieger-syndrome
#15
Susan J Hassed, Shibo Li, Weihong Xu, Ashley C Taylor
Axenfeld-Rieger syndrome is a rare autosomal dominant condition. Anomalies include anterior segment dysgenesis of the eye, dental anomalies, maxillary hypoplasia, periumbilical anomalies, and congenital heart defects. We report a patient with Peters anomaly, dysmorphic features, congenital heart defect, umbilical hernia, short stature, and developmental delay. Diagnostic sequencing of 23 genes known to be causally related to the condition was performed on the patient, parents, and maternal grandparents. A variant of uncertain significance in PITX2 was identified...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28608149/exercise-capacity-and-self-efficacy-are-associated-with-moderate-to-vigorous-intensity-physical-activity-in-children-with-congenital-heart-disease
#16
Laura Banks, Shelly Rosenthal, Cedric Manlhiot, Chun-Po Steve Fan, Adam McKillop, Patricia E Longmuir, Brian W McCrindle
This study sought to determine whether exercise capacity, self-efficacy, and gross motor skills are associated with moderate-to-vigorous physical activity (MVPA) levels in children, and if these associations differ by congenital heart disease (CHD) type. Medical history was abstracted from chart review. We assessed MVPA levels (via accelerometry), percent-predicted peak oxygen consumption ([Formula: see text] cardiopulmonary exercise test), gross motor skill percentiles (test of gross motor development version-2), and self-efficacy [children's self-perceptions of adequacy and predilection for physical activity scale (CSAPPA scale)]...
June 12, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28606676/burden-and-impact-of-congenital-syndromes-and-comorbidities-among-adults-with-congenital-heart-disease
#17
Isabelle Bracher, Maria Padrutt, Francesca Bonassin, Bruno Santos Lopes, Christiane Gruner, Simon F Stämpfli, Angela Oxenius, Gabriella De Pasquale, Theresa Seeliger, Thomas F Lüscher, Christine Attenhofer Jost, Matthias Greutmann
BACKGROUND: Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. METHODS: Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed...
August 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28602537/atrial-septal-defect-increases-the-risk-for-stroke-after-total-hip-arthroplasty
#18
Dean C Perfetti, Morad Chughtai, Matthew R Boylan, Qais Naziri, Aditya V Maheshwari, Michael A Mont
BACKGROUND: Atrial septal defect (ASD) and patent foramen ovale (PFO) are 2 of the most common congenital heart diseases in adults and pose important risks of perioperative acute ischemic stroke (AIS) from paradoxical emboli. We evaluated the following: (1) the prevalence of ASD/PFO in the total hip arthroplasty (THA) population; (2) the rate of perioperative AIS during index admissions; and (3) the risk for perioperative AIS after THA for patients with ASD/PFO vs matched controls. METHODS: We identified 393,652 patients in the Nationwide Inpatient Sample who underwent THA between January 1, 2007, and December 31, 2013...
May 11, 2017: Journal of Arthroplasty
https://www.readbyqxmd.com/read/28600095/adult-congenital-interventions-in-heart-failure
#19
REVIEW
Hussam S Suradi, Ziyad M Hijazi
Congenital heart disease (CHD) is the most common birth defect, occurring in approximately 0.8% to 1.0% of neonates. Advances in medical and surgical therapies for children with CHD have resulted in a growing population of patients reaching adulthood, with survival rates exceeding 85%. Many of these patients, especially if managed inappropriately, face the prospect of future complications including heart failure and premature death. For adults with uncorrected or previously palliated CHD, percutaneous therapies have become the primary treatment for many forms of CHD...
July 2017: Interventional cardiology clinics
https://www.readbyqxmd.com/read/28599093/clinical-and-molecular-cytogenetic-characterization-of-four-unrelated-patients-carrying-2p14-microdeletions
#20
Marie-Laure Mathieu, Caroline Demily, Sandra Chantot-Bastaraud, Alexandra Afenjar, Cyril Mignot, Joris Andrieux, Marion Gerard, Jaume Catala-Mora, Pierre Simon Jouk, Audrey Labalme, Patrick Edery, Damien Sanlaville, Massimiliano Rossi
We report the clinical and molecular cytogenetic characterization of four unrelated patients from France and Spain, carrying 2p14 microdeletions and presenting with intellectual disability and dysmorphisms. 2p14 microdeletions are very rare. Seven patients have been reported so far harboring deletions including 2p14p15 and encompassing OTX1, whose haploinsufficiency is frequently associated with genitourinary defects. To date, only one patient has been reported carrying a more proximal 2p14 microdeletion which does not include OTX1...
June 9, 2017: American Journal of Medical Genetics. Part A
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