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Congenital cardiac defect

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https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#1
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211263/increased-regurgitant-flow-causes-endocardial-cushion-defects-in-an-avian-embryonic-model-of-congenital-heart-disease
#2
Stephanie M Ford, Matthew T McPheeters, Yves T Wang, Pei Ma, Shi Gu, James Strainic, Christopher Snyder, Andrew M Rollins, Michiko Watanabe, Michael W Jenkins
BACKGROUND: The relationship between changes in endocardial cushion and resultant congenital heart diseases (CHD) has yet to be established. It has been shown that increased regurgitant flow early in embryonic heart development leads to endocardial cushion defects, but it remains unclear how abnormal endocardial cushions during the looping stages might affect the fully septated heart. The goal of this study was to reproducibly alter blood flow in vivo and then quantify the resultant effects on morphology of endocardial cushions in the looping heart and on CHDs in the septated heart...
February 17, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28208971/a-rare-association-of-pentalogy-of-fallot-with-situs-inversus-totalis-complicated-by-brain-abscess-in-an-adolescent-case-report
#3
Muhammed Basheer, Sunil Kumar Agarwalla
Tetralogy of Fallot (TOF) is the most frequently diagnosed congenital cyanotic heart disease. It is often associated with additional findings, such as atrial septal defect (i.e., pentalogy of Fallot) or right sided aortic arch. Association of this pentalogy of Fallot with situs inversus totalis is rarely reported in paediatric literature and it can cause technical challenges to intracardiac repair. We report the case of pentalogy of Fallot with dextrocardia and situs inversus presenting as parieto-occipital abscess in a 12-year-old child...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28208963/clinical-profile-of-cardiac-arrhythmias-in-children-attending-the-out-patient-department-of-a-tertiary-paediatric-care-centre-in-chennai
#4
Sarala Premkumar, Premkumar Sundararajan, Thangavelu Sangaralingam
INTRODUCTION: The presentation of symptoms of paediatric arrhythmias vary depending on the age and underlying heart disease. Physical examination of children with important arrhythmias may be entirely normal. AIM: Aim is to study the characteristics of cardiac arrhythmias in paediatric patients in a tertiary paediatric care centre in Chennai, India. MATERIALS AND METHODS: The participants (n=60) were from birth to 12 years of age. Patients with sinus arrhythmias, sinus tachycardia and sinus bradycardia were excluded...
December 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28198573/radiation-dose-benchmarks-in-pediatric-cardiac-catheterization-a-prospective-multi-center-c3po-qi-study
#5
Priscila C Cevallos, Aimee K Armstrong, Andrew C Glatz, Bryan H Goldstein, Todd M Gudausky, Ryan A Leahy, Christopher J Petit, Shabana Shahanavaz, Sara M Trucco, Lisa J Bergersen
OBJECTIVES: This study sought to update benchmark values to use a quality measure prospectively. BACKGROUND: Congenital Cardiac Catheterization Outcomes Project - Quality Improvement (C3PO-QI), a multi-center registry, defined initial radiation dose benchmarks retrospectively across common interventional procedures. These data facilitated a dose metric endorsed by the American College of Cardiology in 2014. METHODS: Data was collected prospectively by 9 C3PO-QI institutions with complete case capture between 1/1/2014 and 6/30/2015...
February 15, 2017: Catheterization and Cardiovascular Interventions
https://www.readbyqxmd.com/read/28197939/prenatal-counseling-of-fetal-congenital-heart-disease
#6
REVIEW
Caroline K Lee
The field of fetal cardiology has advanced greatly over the last two decades and congenital heart defects can now be identified in utero with a high level of accuracy. Prenatal counseling of parents given the news of a fetal cardiac defect is an important role of the fetal cardiologist. Prenatal counseling is a complex task that requires skill to perform and interpret fetal echocardiograms, an understanding of fetal and postnatal cardiovascular physiology, knowledge of therapeutic and surgical options, and of long-term outcomes including quality of life...
January 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28197808/age-related-alterations-of-the-cd19-complex-and-memory-b-cells-in-children-with-down-syndrome
#7
Ayse Nazli Seckin, Hulya Ozdemir, Ayca Ceylan, Hasibe Artac
Children with Down syndrome (DS) have a high incidence of recurrent respiratory tract infections, leukaemia and autoimmune disorders, suggesting immune dysfunction. The present study evaluated the role of the CD19 complex and memory B cells in the pathogenesis of immunodeficiency in children with DS. The expression levels (median fluorescein intensity-MFI) of CD19, CD21 and CD81 molecules on the surface of B cells and memory B cell subsets were studied in 37 patients and 39 healthy controls. Twenty-nine of the DS group had congenital cardiac disease...
February 14, 2017: Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/28196823/cor-triatriatum-sinistrum-presentation-of-syncope-and-atrial-tachycardia
#8
Malcolm Avari, Sunil Nair, Zofia Kozlowska, Samer Nashef
We present a rather unusual cause for syncope associated with atrial tachycardia. A man aged 39 years presented with an episode of syncope and narrow complex tachycardia. Further investigations, including transoesophageal echocardiography, identified cor triatriatum sinistrum (CTS), a rare congenital abnormality characterised by the atrium being divided by a fibrous membrane. Although it is rare, there has been an increase in diagnosis due to developments in diagnostic imaging techniques. Symptoms are related to the size of fenestrations within the fibrous membrane...
February 14, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28185170/mechanisms-of-cardiomyocyte-proliferation-and-differentiation-in-development-and-regeneration
#9
REVIEW
Jessie Wettig Yester, Bernhard Kühn
PURPOSE OF REVIEW: Congenital heart disease is the most common birth defect and acquired heart disease is the leading cause of death in adults. Understanding the mechanisms that drive cardiomyocyte proliferation and differentiation has the potential to advance the understanding and potentially the treatment of different cardiac pathologies, ranging from myopathies and heart failure to myocardial infarction. This review focuses on studies aimed at elucidating signal transduction pathways and molecular mechanisms that promote proliferation, differentiation, and regeneration of differentiated heart muscle cells, cardiomyocytes...
February 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28180202/applicability-and-technical-aspects-of-two-dimensional-ultrasonography-for-assessment-of-fetal-heart-function
#10
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Luciano Marcondes Nardozza, Alex Sandro Souza, Edward Araujo Júnior
In recent years, fetal echocardiography has been used for the screening and diagnosis of anatomical heart defects and for the detailed study of fetal cardiac function. This method is characterized by its easy implementation and good reproducibility, allowing the diagnosis of myocardial dysfunction even in its subclinical phase. The functional assessment of the fetal heart should be routinely performed in fetuses with congenital heart disease and those without anatomical malformation. Several extra-cardiac conditions may alter fetal cardiac function, by increased placental resistance, volume overload or hyperdynamic circulation, compression, or maternal systemic disease with involvement of the fetal myocardium...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28169262/presence-of-aggregatibacter-actinomycetemcomitans-in-saliva-and-cardiac-tissue-samples-of-children-with-congenital-heart-disease
#11
Elif Bozdogan, Nursen Topcuoglu, Gurkan Cetin, Ismail Haberal, Guven Kulekci, Oya Aktoren
AIM: The purpose of this study was to analyze the presence of Aggregatibacter actinomycetemcomitans in saliva and cardiac tissue samples of children requiring cardiac surgery in Istanbul, Turkey. SUBJECTS AND METHODS: Twenty-five patients (mean age: 6.24 ± 2.93) undergoing surgery for congenital heart defects (CHDs) and an age/gender-matched control group of 25 healthy children were enrolled in the study. Saliva samples were collected from all children; plaque index (PI) and gingival index (GI) were also determined...
November 2016: Indian Journal of Dental Research: Official Publication of Indian Society for Dental Research
https://www.readbyqxmd.com/read/28167794/gata4-potentiates-second-heart-field-proliferation-and-hedgehog-signaling-for-cardiac-septation
#12
Lun Zhou, Jielin Liu, Menglan Xiang, Patrick Olson, Alexander Guzzetta, Ke Zhang, Ivan P Moskowitz, Linglin Xie
GATA4, an essential cardiogenic transcription factor, provides a model for dominant transcription factor mutations in human disease. Dominant GATA4 mutations cause congenital heart disease (CHD), specifically atrial and atrioventricular septal defects (ASDs and AVSDs). We found that second heart field (SHF)-specific Gata4 heterozygote embryos recapitulated the AVSDs observed in germline Gata4 heterozygote embryos. A proliferation defect of SHF atrial septum progenitors and hypoplasia of the dorsal mesenchymal protrusion, rather than anlage of the atrioventricular septum, were observed in this model...
February 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28167492/disruption-of-pdgfra-alters-endocardial-and-myocardial-fusion-during-zebrafish-cardiac-assembly
#13
Suzan El-Rass, Shahram Eisa-Beygi, Edbert Khong, Koroboshka Brand-Arzamendi, Antonio Mauro, Haibo Zhang, Karl J Clark, Stephen C Ekker, Xiao-Yan Wen
Cardiac development in vertebrates is a finely tuned process regulated by a set of conserved signaling pathways. Perturbations of these processes are often associated with congenital cardiac malformations. Platelet-derived growth factor receptor α (PDGFRα) is a highly conserved tyrosine kinase receptor, which is essential for development and organogenesis. Disruption of Pdgfrα function in murine models are embryonic lethal due to severe cardiovascular defects, suggesting a role in cardiac development, thus necessitating the use of alternative models to explore its precise function...
February 6, 2017: Biology Open
https://www.readbyqxmd.com/read/28164029/trends-in-pediatric-echocardiography-and-the-yield-for-congenital-heart-disease-in-a-major-cardiac-referral-hospital-in-cameroon
#14
Clovis Nkoke, Eric Balti, Alain Menanga, Anastase Dzudie, Alain Lekoubou, Samuel Kingue, Andre Pascal Kengne
BACKGROUND: Congenital heart disease (CHD) is a common condition in children in Sub-Saharan Africa (SSA), where it is associated with poor outcomes. Diagnosis of CHD in SSA depends essentially on echocardiography, which is available only in few urban referral centers. Our aim was to assess time changes in the pattern of referral for pediatric echocardiography and the subsequent diagnosis of structural CHD in a major SSA city. METHODS: All pediatric echocardiography performed between 2004 and 2013 at the echocardiography laboratory of the Yaounde General Hospital were reviewed...
January 2017: Translational pediatrics
https://www.readbyqxmd.com/read/28151866/acute-arterial-embolism-of-left-lower-extremity-caused-by-paradoxical-embolism-in-ebstein-s-anomaly-a-case-report
#15
Jun-Sheng Li, Jie Ma, Zi-Xing Yan, Dong-Ming Cheng, Liang Chang, Hai-Chun Zhang, Jiang-Yan Liu
INTRODUCTION: Ebstein's anomaly is a benign and stable congenital heart disease for asymptomatic patients. Despite a low incidence of Ebstein's anomaly (EA), patients' quality of life can be badly affected by EA without positive surgical intervention. Especially EA is associated with other congenital heart disease, such as the atrial septal defect, patent foramen ovale, and arterial embolism exclude other reasons, it is often considered to be the consequence of paradoxical embolism, and surgical intervention must be conducted...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28151402/mental-health-among-parents-of-children-with-critical-congenital-heart-defects-a-systematic-review
#16
REVIEW
Sarah E Woolf-King, Alexandra Anger, Emily A Arnold, Sandra J Weiss, David Teitel
BACKGROUND: Parents of children with critical congenital heart defects (PCCHDs) may be at high risk for mental health morbidity; however, the literature is not well characterized. Given that compromised parental mental health can lead to long-term cognitive, health-related, and behavioral problems in children, a systematic review of this literature could provide informed recommendations for continued research and enhance the care of families of children living with critical congenital heart defects...
February 1, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28150025/initial-field-test-of-a-cloud-based-cardiac-auscultation-system-to-determine-murmur-etiology-in-rural-china
#17
Lee Pyles, Pouya Hemmati, J Pan, Xiaoju Yu, Ke Liu, Jing Wang, Andreas Tsakistos, Bistra Zheleva, Weiguang Shao, Quan Ni
A system for collection, distribution, and long distant, asynchronous interpretation of cardiac auscultation has been developed and field-tested in rural China. We initiated a proof-of-concept test as a critical component of design of a system to allow rural physicians with little experience in evaluation of congenital heart disease (CHD) to obtain assistance in diagnosis and management of children with significant heart disease. The project tested the hypothesis that acceptable screening of heart murmurs could be accomplished using a digital stethoscope and internet cloud transmittal to deliver phonocardiograms to an experienced observer...
February 2, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28149925/automated-detection-of-coarctation-of-aorta-in-neonates-from-two-dimensional-echocardiograms
#18
Franklin Pereira, Alejandra Bueno, Andrea Rodriguez, Douglas Perrin, Gerald Marx, Michael Cardinale, Ivan Salgo, Pedro Del Nido
Coarctation of aorta (CoA) is a critical congenital heart defect (CCHD) that requires accurate and immediate diagnosis and treatment. Current newborn screening methods to detect CoA lack both in sensitivity and specificity, and when suspected in a newborn, it must be confirmed using specialized imaging and expert diagnosis, both of which are usually unavailable at tertiary birthing centers. We explore the feasibility of applying machine learning methods to reliably determine the presence of this difficult-to-diagnose cardiac abnormality from ultrasound image data...
January 2017: Journal of Medical Imaging
https://www.readbyqxmd.com/read/28148323/primary-care-management-of-patients-with-coarctation-of-the-aorta
#19
REVIEW
Jeffrey R Boris
Coarctation of the aorta is a congenital cardiac defect that results in a variable degree of obstruction to the left side of the heart. It can present with either acute shock in the neonatal period as a critical lesion or it can appear more insidiously with hypertension or other findings later in life. This article summarises aspects of outpatient care of patients with this lesion, including clinical history and physical examination, ancillary testing, and issues associated with long-term follow-up and management...
December 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/28147253/minimally-invasive-vs-open-congenital-diaphragmatic-hernia-repair-is-there-a-superior-approach
#20
Luke R Putnam, Kuojen Tsao, Kevin P Lally, Martin L Blakely, Tim Jancelewicz, Pamela A Lally, Matthew T Harting
BACKGROUND: The minimally-invasive (MIS) approach for congenital diaphragmatic hernia (CDH) repair remains controversial. Our objective was to compare outcomes and complications of the MIS and open approaches, with risk-stratification of patients based on defect size and key patient characteristics. STUDY DESIGN: The multi-national CDH Study Group (CDHSG) registry was queried for the period from 2007-2015. Patient demographics and operative details including the CDHSG Staging System defect size (A-D) were reviewed...
January 29, 2017: Journal of the American College of Surgeons
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