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"Congenital heart disease"

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https://www.readbyqxmd.com/read/28534241/a-genetic-variant-in-fign-gene-reduces-the-risk-of-congenital-heart-disease-in-han-chinese-populations
#1
Dan Wang, Maoping Chu, Feng Wang, Aihua Zhou, Miaohua Ruan, Yiming Chen
Congenital heart disease (CHD) is one of the most common birth anomalies worldwide. Folate deficiency is an independent risk factor for CHD. Genome-wide association studies (GWAS) revealed that human folate level could be significantly influenced by fidgetin (FIGN), methylenetetrahydrofolate reductase (MTHFR), prickle homolog 2 (PRICKLE2), synaptotagmin 9 (SYT9), gamma-aminobutyric acid B receptor 2 (GABBR2), and alkaline phosphatase (ALPL) genes. The association between the above-mentioned six variants and CHD was examined in the two independent case-control studies in a total of 868 CHD patients and 931 healthy controls...
May 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28534239/analysis-of-screening-electrocardiogram-for-the-subcutaneous-defibrillator-in-adults-with-congenital-heart-disease
#2
Vincent C Thomas, Mark Peterson, Martin McDaniel, Humberto Restrepo, Abraham Rothman, Amit Jain
Candidates for the subcutaneous implantable cardioverter-defibrillator (S-ICD) are screened using an electrocardiogram (S-ECG) tool to measure appropriate detection. We sought to define the S-ICD candidacy of congenital heart disease patients using the S-ECG tool. We also analyzed the reliability of the (S-ECG) tool between measurers in this population. Patients above the age of 12 and with a diagnosis associated with either a higher incidence of cardiac arrest or vascular access challenges were asked to undergo screening...
May 22, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28534022/mental-health-problems-in-parents-of-children-with-congenital-heart-disease
#3
REVIEW
Gerasimos A Kolaitis, Maya G Meentken, Elisabeth M W J Utens
This review will provide a concise description of mental health problems in parents of children with a (non-syndromic) congenital heart disease (CHD) during different stressful periods. Predictors of these problems and also implications for clinical practice will be mentioned. Having a child with CHD can be very stressful for parents, who have to face overwhelming emotions and also extra physical, financial, and other practical challenges. Parental distress has been reported in 30-80% of parents and appears not to be related to severity of CHD...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28533195/de-novo-8p23-1-deletion-in-a-patient-with-absence-epilepsy
#4
Nihan Hande Akcakaya, Özlem Yalcin Capan, Herbert Schulz, Thomas Sander, Server Hande Caglayan, Zuhal Yapıcı
The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development...
May 22, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28533037/epidemiology-of-live-born-infants-with-nonimmune-hydrops-fetalis-insights-from-a-population-based-dataset
#5
Martina A Steurer, Shabnam Peyvandi, Rebecca J Baer, Tippi MacKenzie, Ben C Li, Mary E Norton, Laura L Jelliffe-Pawlowski, Anita J Moon-Grady
OBJECTIVE: To evaluate the incidence, etiology, and 1-year mortality of nonimmune hydrops fetalis (NIHF) and to identify risk factors for mortality in a contemporary population-based dataset. STUDY DESIGN: The California Office of Statewide Health Planning and Development maintains a database linking maternal and infant hospital discharge, readmissions, and birth and death certificate date from 1 year before to 1 year after birth. We searched the database (2005-2012) for infants with NIHF (identified by the International Classification of Diseases, 9th Revision, Clinical Modification code)...
May 19, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28532774/genotype-positive-long-qt-syndrome-in-patients-with-coexisting-congenital-heart-disease
#6
Mohammed A Ebrahim, Matthew R Williams, Suzanne Shepard, James C Perry
Congenital long QT syndrome (LQTS) is characterized by QT prolongation with predisposition to life-threatening arrhythmia. There have been sporadic reports of LQTS coexisting with more common forms of congenital heart disease (CHD). However, the diagnosis of LQTS when CHD is present may be confounded by several common variables including postoperative electromechanical factors predisposing to ventricular arrhythmia, intrinsic, and postoperative QRS abnormalities. This report documents a single-center experience with patients who have both genetically confirmed LQTS and CHD to examine their modes of presentation and factors associated with making the diagnosis of LQTS in this patient population, as well as potential confounding variables that may mask or delay both LQTS diagnosis and initiation of therapy...
April 27, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28532240/ventricular-assist-devices-for-the-failing-univentricular-circulation
#7
Edward Buratto, William Y Shi, Xin Tao Ye, Igor E Konstantinov
Improved survival following single ventricle palliation has led to a large population of patients with a Fontan circulation, many of whom will eventually develop Fontan failure. Many of these patients will require heart transplantation. However, more than half of these patients have Fontan failure despite preserved ventricular function. Increasing experience with ventricular assist devices (VAD) in children has paved the way for VAD support in those with failing univentricular circulation. Areas covered: The use of VADs to support the failing univentricular circulation is a relatively new concept...
May 22, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28530678/the-complex-genetics-of-hypoplastic-left-heart-syndrome
#8
Xiaoqin Liu, Hisato Yagi, Shazina Saeed, Abha S Bais, George C Gabriel, Zhaohan Chen, Kevin A Peterson, You Li, Molly C Schwartz, William T Reynolds, Manush Saydmohammed, Brian Gibbs, Yijen Wu, William Devine, Bishwanath Chatterjee, Nikolai T Klena, Dennis Kostka, Karen L de Mesy Bentley, Madhavi K Ganapathiraju, Phillip Dexheimer, Linda Leatherbury, Omar Khalifa, Anchit Bhagat, Maliha Zahid, William Pu, Simon Watkins, Paul Grossfeld, Stephen A Murray, George A Porter, Michael Tsang, Lisa J Martin, D Woodrow Benson, Bruce J Aronow, Cecilia W Lo
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant mice and identification of genes causing HLHS. Mutations from seven HLHS mouse lines showed multigenic enrichment in ten human chromosome regions linked to HLHS...
May 22, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28529923/the-landscape-of-congenital-heart-disease
#9
Giovanni Biglino
No abstract text is available yet for this article.
April 2017: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/28528723/ventricular-pacing-in-single-ventricles-a-bad-combination
#10
Anica Bulic, Frank J Zimmerman, Scott R Ceresnak, Ira Shetty, Kara S Motonaga, Anne Freter, Anthony V Trela, Deb Hanisch, Lisa Russo, Kishor Avasarala, Anne M Dubin
BACKGROUND: Chronic ventricular pacing (VP) is associated with systolic dysfunction in a subset of pediatric patients with heart block and structurally normal hearts. The effect of chronic VP in congenital heart disease is less well understood, specifically in the single-ventricle (SV) population. OBJECTIVE: To determine the longitudinal effect of VP in SV patients. METHODS: SV patients with heart block and dual-chamber pacemakers requiring >50% VP were compared with nonpaced (controls) SV patients matched for age, sex, and SV morphology...
June 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28528718/double-outlet-right-ventricle-revisited
#11
Ameneh Ebadi, Diane E Spicer, Carl L Backer, F Jay Fricker, Robert H Anderson
OBJECTIVES: Double-outlet right ventricle is a form of ventriculoarterial connection. The definition formulated by the International Society for Nomenclature of Paediatric and Congenital Heart Disease is based on hearts with both arterial trunks supported in their greater part by a morphologically right ventricle. Bilateral infundibula and ventricular septal defects are highly debated criteria. This study examines the anatomic controversies surrounding double-outlet right ventricle. We show that hearts with double-outlet right ventricle can have atrioventricular-to-arterial valvular continuity...
March 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28526506/investigating-the-causes-of-neurodevelopmental-deficits-in-congenital-heart-disease-through-multiple-gestations
#12
EDITORIAL
Ryan R Davies
No abstract text is available yet for this article.
March 19, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28525297/association-analysis-of-nonsyndromic-congenital-heart-disease-and-tag-single-nucleotide-polymorphisms-of-tbx20-and-genes-in-the-ras-mapk-pathway
#13
Zhiling Luo, Yan Shen, Wei Chen, Xuejuan Ma, Liping Liu, Xiaoqin Huang, Zhaoqing Yang, Hao Sun
AIMS: The present study was performed to determine whether there are variants in TBX20 and genes of the Ras-MAPK pathway associated with nonsyndromic congenital heart disease (ns-CHD). MATERIALS AND METHODS: A total of 223 ns-CHD patients and 273 healthy controls from China were selected as study subjects to perform an association analysis using 22 tag single-nucleotide polymorphisms (tag SNPs) located either in one of three genes in the Ras-MAPK pathway (MAP2K2, BRAF, and RAF1) or the TBX20 gene that have previously been associated with syndromic congenital heart disease...
May 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28523852/preparing-adolescents-with-heart-problems-for-transition-to-adult-care-2009-2010-national-survey-of-children-with-special-health-care-needs
#14
Karrie F Downing, Matthew E Oster, Sherry L Farr
OBJECTIVE: A substantial percentage of children with congenital heart disease (CHD) fail to transfer to adult care, resulting in increased risk of morbidity and mortality. Transition planning discussions with a provider may increase rates of transfer, yet little is known about frequency and content of these discussions. We assessed prevalence and predictors of transition-related discussions between providers and parents of children with special healthcare needs (CSHCN) and heart problems, including CHD...
May 19, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28523472/assessment-of-coronary-artery-by-prospective-ecg-triggered-256-multi-slice-ct-on-children-with-congenital-heart-disease
#15
Li-Ping Yao, Li Zhang, Hui-Ming Li, Ming Ding, Ling-Wei Yu, Xin Yang, Xiao-Ming Li, Kun Sun
This study aims to investigate the imaging quality and radiation dose of prospective ECG-triggered 256 multi-slice computer tomography (MSCT) in accessing the coronary artery (CA) in children. Coronary arteries of 149 children were evaluated using prospective ECG-triggered 256 MSCT with the same system settings. A four-point scoring system was applied to study the capability of MSCT in detecting CA in these patients. Signal, noise and contrast-to-noise ratios (CNR) were analyzed to investigate the association of image quality with age...
May 18, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28523142/quality-of-life-an-underutilized-patient-reported-outcome-for-adults-with-congenital-heart-disease
#16
EDITORIAL
Sameh M Said, Joseph A Dearani
No abstract text is available yet for this article.
April 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28521893/pulmonary-hypertension-in-infants-children-and-young-adults
#17
REVIEW
Georg Hansmann
Pulmonary hypertension (PH) in neonates, infants, children, adolescents, and young adults is a complex condition that can be associated with several cardiac, pulmonary, and systemic diseases contributing to morbidity and mortality. The underlying pulmonary hypertensive vascular disease (PHVD) is characterized by inflammation, pulmonary vascular remodeling, and angio-obliteration leading to elevated pulmonary arterial pressure and resistance, right ventricular dysfunction, left ventricular compression, and subsequent heart failure...
May 23, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28521042/induced-pluripotent-stem-cell-modelling-of-hlhs-underlines-the-contribution-of-dysfunctional-notch-signalling-to-impaired-cardiogenesis
#18
Chunbo Yang, Yaobo Xu, Min Yu, David Lee, Sameer Alharti, Nicola Hellen, Noor Ahmad Shaik, Babajan Banaganapalli, Hussein Ali Mohamoud Sheikh, Elango Ramu, Stefan Przyborski, Gennadiy Tenin, Simon Williams, John O'Sullivan, Osman O Al-Radi, Jameel Atta, Sian E Harding, Bernard Keavney, Majlinda Lako, Lyle Armstrong
Hypoplastic left heart syndrome (HLHS) is among the most severe forms of congenital heart disease. Although the consensus view is that reduced flow through the left heart during development is a key factor in the development of the condition, the molecular mechanisms leading to hypoplasia of left heart structures are unknown. We have generated induced pluripotent stem cells (iPSC) from five HLHS patients and two unaffected controls, differentiated these to cardiomyocytes and identified reproducible in vitro cellular and functional correlates of the HLHS phenotype...
May 17, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28520541/outcomes-and-prognostic-factors-for-adult-patients-with-congenital-heart-disease-undergoing-primary-or-reoperative-systemic-atrioventricular-valve-surgery
#19
Elizabeth H Stephens, Jiho Han, Jonathan Ginns, Marlon Rosenbaum, Paul Chai, Emile Bacha, David Kalfa
BACKGROUND: Adults with congenital heart disease (ACHD) undergoing systemic atrioventricular valve (SAVV) surgery are a complex, understudied population. We assessed midterm outcomes and prognostic factors in ACHD undergoing SAVV surgery. METHODS: We performed retrospective evaluation of ACHD undergoing SAVV surgery from January 2005 to February 2016: 14 (33%) patients with congenital mitral valve stenosis/regurgitation, 15 (35%) with atrioventricular septal defect (AVSD), and 14 (33%) with congenitally corrected transposition of the great arteries (ccTGA) with systemic tricuspid valve regurgitation...
May 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28517030/gerbode-defect-and-multivalvular-dysfunction-complex-complications-in-adult-congenital-heart-disease
#20
Catarina Ruivo, Joana Guardado, Fernando Montenegro Sá, Fátima Saraiva, Alexandre Antunes, Joana Correia, João Morais
We report a clinical case of a 40-year-old male with surgically corrected congenital heart disease (CHD) 10 years earlier: closure of ostium primum, mitral annuloplasty, and aortic valve and root surgery. The patient was admitted with acute heart failure. Transesophageal echocardiography (TEE) revealed a dysmorphic and severely incompetent aortic valve, a partial tear of the mitral valve cleft repair and annuloplasty ring dehiscence. A true left ventricular-to-right atrial shunt confirmed a direct Gerbode defect...
May 18, 2017: Echocardiography
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