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https://www.readbyqxmd.com/read/28647801/prognostic-factors-of-atrial-fibrillation-following-coronary-artery-bypass-graft-surgery
#1
Mantas Kievišas, Vytenis Keturakis, Egidijus Vaitiekūnas, Lukas Dambrauskas, Loreta Jankauskienė, Šarūnas Kinduris
OBJECTIVE: Postoperative atrial fibrillation (POAF) is the most common complication after cardiac surgery. To prevent this complication, routine pharmacological prophylactic drugs could be administered. Our study aimed to analyze the various perioperative factors associated with the development of POAF after coronary artery bypass graft (CABG) surgery. METHODS: This prospective study included 617 patients, who received CABG surgery in the year 2014. RESULTS: There were 429 (69...
June 24, 2017: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28645799/genotype-phenotype-evaluation-of-med13l-defects-in-the-light-of-a-novel-truncating-and-a-recurrent-missense-mutation
#2
Reza Asadollahi, Markus Zweier, Laura Gogoll, Raphael Schiffmann, Heinrich Sticht, Katharina Steindl, Anita Rauch
A decade after the designation of MED13L as a gene and its link to intellectual disability (ID) and dextro-looped transposition of great arteries in 2003, we previously described a recognizable syndrome due to MED13L haploinsufficiency. Subsequent reports of 22 further patients diagnosed by genome-wide testing further delineated the syndrome with expansion of the phenotypic spectrum and showed reduced penetrance for congenital heart defects. We now report two novel patients identified by whole exome sequencing, one with a de novo MED13L truncating mutation and the other with a de novo missense mutation...
June 20, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28645012/associations-between-toxic-and-essential-trace-elements-in-maternal-blood-and-fetal-congenital-heart-defects
#3
Yanqiu Ou, Michael S Bloom, Zhiqiang Nie, Fengzhen Han, Jinzhuang Mai, Jimei Chen, Shao Lin, Xiaoqing Liu, Jian Zhuang
Prenatal exposure to toxic trace elements, including heavy metals, is an important public health concern. Few studies have assessed if individual and multiple trace elements simultaneously affect cardiac development. The current study evaluated the association between maternal blood lead (Pb), cadmium (Cd), chromium (Cr), copper (Cu), mercury (Hg), and selenium (Se) levels and congenital heart defects (CHDs) in offspring. This hospital-based case-control study included 112 case and 107 control infants. Maternal peripheral blood draw was made during gestational weeks 17-40 and used to determine trace element levels by inductively coupled plasma mass spectrometry...
June 20, 2017: Environment International
https://www.readbyqxmd.com/read/28644566/clinical-characteristics-and-outcome-of-liver-transplantation-for-alagille-syndrome-in-children
#4
Tao Zhou, Jianjun Zhang, Yi Luo, Yuan Liu, Sy Zhuang, Feng Xue, Longzhi Han, Qiang Xia
AIM: The aim of this study was to analyze clinical characteristics and outcome of liver transplantation for Alagille syndrome in children. METHOD: By retrospectively reviewing the medical records of 9 Alagille syndrome patients(AGS) with liver transplantation(LT) in Renji Hospital between 2006 and 2015,After operative,the height and weight Z score were compared with preoperative. RESULT: There were 9 patients included in the study; cholestasis and peculiar faces were seen in all of the patients (100%), heart defect in 8 patients (88...
June 23, 2017: Journal of Digestive Diseases
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
#5
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/28624249/the-role-of-3-d-heart-models-in-planning-and-executing-interventional-procedures
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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/28612622/pediatric-nurses-perception-of-support-for-families-with-children-with-congenital-heart-defects
#12
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
#13
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/28609304/suprameatal-cochlear-implantation-in-a-charge-patient-with-a-novel-chd7-variant-and-kallmann-syndrome-phenotype-a-case-report
#14
Akira Ganaha, Tetsuya Tono, Tadashi Kaname, Kumiko Yanagi, Teruyuki Higa, Shunsuke Kondo, Hiroyuki Maeda, Mikio Suzuki
OBJECTIVE: We present the clinical findings, technique of the suprameatal cochlear implantation, postoperative auditory results, and genetic analysis of the CHD7 gene. PATIENT: A 19-year-old Japanese woman was referred because of progressive hearing loss since early childhood. She had used verbal language for the main mode of communication until the age of 17. Examination revealed coloboma, heart defect, choanal atresia, genital hypoplasia, and deafness, which was diagnosed as CHARGE syndrome...
June 12, 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28606676/burden-and-impact-of-congenital-syndromes-and-comorbidities-among-adults-with-congenital-heart-disease
#15
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/28603940/outcome-of-prenatally-diagnosed-fetal-heterotaxy-a-systematic-review-and-meta-analysis
#16
REVIEW
Danilo Italo Pio Buca, Asma Khalil, Giuseppe Rizzo, Alessandra Familiari, Silvia Di Giovanni, Marco Liberati, Daniela Murgano, Alessandra Ricciardulli, Francesco Fanfani, Giovanni Scambia, Francesco D'Antonio
OBJECTIVES: To assess the perinatal outcomes of fetuses affected by heterotaxy. METHODS: Medline, Embase and Cinhal were searched. Only studies reporting a prenatal diagnosis of isomerism were included. The outcomes observed were: associated cardiac and extra-cardiac anomalies, fetal arrhythmias, abnormal karyotype, type of surgical repair and perinatal mortality. The analysis was stratified according the type of heterotaxy syndrome (left, LAI, and right, RAI, atrial isomerism)...
June 12, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28598570/the-outcome-of-isolated-prenatal-ventricular-size-disproportion-in-the-absence-of-aortic-coarctation
#17
A E L van Nisselrooij, L Rozendaal, I Linskens, S A Clur, J Hruda, E Pajkrt, C L van Velzen, N A Blom, M C Haak
OBJECTIVES: Ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, however, approximately 50% of fetuses do not develop CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with ventricular disproportion in the absence of CoA in this cohort. METHODS: All cases with prenatal isolated ventricular size disproportion in the period 2002-2015 were extracted from a prenatal congenital heart defects (CHD) registry of a regional cohort...
June 9, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28594414/genotype-and-phenotype-spectrum-of-nras-germline-variants
#18
Franziska Altmüller, Christina Lissewski, Debora Bertola, Elisabetta Flex, Zornitza Stark, Stephanie Spranger, Gareth Baynam, Michelle Buscarilli, Sarah Dyack, Jane Gillis, Helger G Yntema, Francesca Pantaleoni, Rosa LE van Loon, Sara MacKay, Kym Mina, Ina Schanze, Tiong Yang Tan, Maie Walsh, Susan M White, Marena R Niewisch, Sixto García-Miñaúr, Diego Plaza, Mohammad Reza Ahmadian, Hélène Cavé, Marco Tartaglia, Martin Zenker
RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants)...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28594399/essential-but-partially-redundant-roles-for-pou4f1-brn-3a-and-pou4f2-brn-3b-transcription-factors-in-the-developing-heart
#19
Lauren J Maskell, Kashif Qamar, Aram A Babakr, Thomas A Hawkins, Richard J Heads, Vishwanie S Budhram-Mahadeo
Congenital heart defects contribute to embryonic or neonatal lethality but due to the complexity of cardiac development, the molecular changes associated with such defects are not fully understood. Here, we report that transcription factors (TFs) Brn-3a (POU4F1) and Brn-3b (POU4F2) are important for normal cardiac development. Brn-3a directly represses Brn-3b promoter in cardiomyocytes and consequently Brn-3a knockout (KO) mutant hearts express increased Brn-3b mRNA during mid-gestation, which is linked to hyperplastic growth associated with elevated cyclin D1, a known Brn-3b target gene...
June 8, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28591192/perinatal-outcomes-and-congenital-heart-defect-prognosis-in-53313-non-selected-perinatal-infants
#20
Donghua Xie, Hua Wang, Zhiyu Liu, Junqun Fang, Tubao Yang, Shujin Zhou, Aihua Wang, Jiabi Qin, Lili Xiong
OBJECTIVE: To evaluate perinatal outcomes and congenital heart defect (CHD) prognosis in a non-selected population. METHODS: The population-based surveillance data used in this assessment of CHDs were based on birth defect surveillance data collected from 2010-2012 in Liuyang City, China. Infants living with CHDs were followed up for 5 years to determine their prognosis. Prevalence, prenatal diagnosis, perinatal outcomes, and total and type-specific prognosis data were assessed using SPSS 18...
2017: PloS One
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