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https://www.readbyqxmd.com/read/29040751/epidenovo-a-platform-for-linking-regulatory-de-novo-mutations-to-developmental-epigenetics-and-diseases
#1
Fengbiao Mao, Qi Liu, Xiaolu Zhao, Haonan Yang, Sen Guo, Luoyuan Xiao, Xianfeng Li, Huajing Teng, Zhongsheng Sun, Yali Dou
De novo mutations (DNMs) have been shown to be a major cause of severe early-onset genetic disorders such as autism spectrum disorder and intellectual disability. Over one million DNMs have been identified in developmental disorders by next generation sequencing, but linking these DNMs to the genes that they impact remains a challenge, as the majority of them are embedded in non-coding regions. As most developmental diseases occur in the early stages of development or during childhood, it is crucial to clarify the details of epigenetic regulation in early development in order to interpret the mechanisms underlying developmental disorders...
October 10, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/29035429/where-is-the-optimal-fontan-hemodynamics
#2
REVIEW
Hideo Ohuchi
Fontan circulation is generally characterized by high central venous pressure, low cardiac output, and slightly low arterial oxygen saturation, and it is quite different from normal biventricular physiology. Therefore, when a patient with congenital heart disease is selected as a candidate for this type of circulation, the ultimate goals of therapy consist of 2 components. One is a smooth adjustment to the new circulation, and the other is long-term circulatory stabilization after adjustment. When either of these goals is not achieved, the patient is categorized as having "failed" Fontan circulation, and the prognosis is dismal...
September 18, 2017: Korean Circulation Journal
https://www.readbyqxmd.com/read/29034445/dental-prevention-and-disease-awareness-in-children-with-congenital-heart-disease
#3
Steffen Koerdt, Julia Hartz, Stefan Hollatz, Gesche Frohwitter, Marco R Kesting, Peter Ewert, Renate Oberhoffer, Herbert Deppe
OBJECTIVES: The importance of excellent oral health is known to be crucial in children with congenital heart diseases (CHD). Data about dental health and disease awareness is limited. This study aims to assess preventive measures taken to improve dental health in children with CHD and to gain insight into disease awareness and knowledge about the importance of oral health in children with CHD and to propose measures that could be taken. MATERIAL AND METHODS: Parents of 150 children with CHD were asked to complete a questionnaire containing specific questions about the preventive measures taken by the parents and dental and medical practitioners and their knowledge about underlying disease and the importance of oral health...
October 16, 2017: Clinical Oral Investigations
https://www.readbyqxmd.com/read/29034164/aberrant-brain-functional-connectivity-in-newborns-with-congenital-heart-disease-before-cardiac-surgery
#4
Josepheen De Asis-Cruz, Mary T Donofrio, Gilbert Vezina, Catherine Limperopoulos
Newborns with congenital heart disease (CHD) requiring open heart surgery are at increased risk for neurodevelopmental disabilities. Recent quantitative MRI studies have reported disrupted growth, microstructure, and metabolism in fetuses and newborns with complex CHD. To date, no study has examined whether functional brain connectivity is altered in this high-risk population after birth, before surgery. Our objective was to compare whole-brain functional connectivity of resting state networks in healthy, term newborns (n = 82) and in term neonates with CHD before surgery (n = 30) using graph theory and network-based statistics...
2018: NeuroImage: Clinical
https://www.readbyqxmd.com/read/29033037/takotsubo-syndrome-spreads-its-tentacles-to-congenital-heart-disease
#5
EDITORIAL
Ibrahim Abdullah
No abstract text is available yet for this article.
September 18, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/29033017/neurocognitive-and-psychological-outcomes-in-adults-with-dextro-transposition-of-the-great-arteries-corrected-by-the-arterial-switch-operation
#6
Leïla Kasmi, Johanna Calderon, Michèle Montreuil, Nikoletta Geronikola, Virginie Lambert, Emrè Belli, Damien Bonnet, David Kalfa
BACKGROUND: Neurodevelopmental impairments have frequently been described in children and adolescents with dextro-transposition of the great arteries (d-TGA). The arterial switch operation (ASO) to correct d-TGA has been used for more than 30 years, and more than 90% of these patients now reach adulthood. However, very little is known about their long-term functional outcomes. The present study investigated neurocognitive outcomes and the prevalence of psychiatric disorders in adults with d-TGA corrected by ASO...
October 12, 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/29032566/pulmonary-arterial-hypertension-complicating-congenital-heart-disease-advances-in-therapy
#7
Heba Nashat, Margarita Brida, Laura S Price, Colm McCabe, Rafael Alonso-Gonzalez, Stephen J Wort, Aleksander Kempny, Konstantinos Dimopoulos, Michael J Gatzoulis
No abstract text is available yet for this article.
October 2017: Seminars in Respiratory and Critical Care Medicine
https://www.readbyqxmd.com/read/29029134/the-natural-history-and-surgical-outcome-of-patients-with-scimitar-syndrome-a-multi-centre-european-study
#8
Vladimiro L Vida, Alvise Guariento, Ornella Milanesi, Dario Gregori, Giovanni Stellin
Aims: Treatment decisions in patients with scimitar syndrome (SS) are often challenging, especially in patients with isolated SS who are often asymptomatic and who might be diagnosed accidentally. We queried a large multi-institutional registry of SS patients to evaluate the natural history of this condition and to determine the efficacy of surgical treatment in terms of survival and clinical status. Methods and results: We collected data on 485 SS patients from 51 institutions; 279 (57%) patients were treated surgically (STPs) and 206 (43%) were clinically monitored (CMPs)...
October 3, 2017: European Heart Journal
https://www.readbyqxmd.com/read/29028634/establishing-a-successful-transition-care-plan-for-the-adolescent-with-congenital-heart-disease
#9
Christopher Talluto
PURPOSE OF REVIEW: In this review we explore the aspects needed to develop a successful transition program for adolescents with congenital heart disease and the barriers that exist to the development of such a program. RECENT FINDINGS: We review the literature including more recent publications which support the development of a transition program in order to facilitate transfer from the pediatric to the adult healthcare system. SUMMARY: With the development of a successful transition program patients will hopefully receive high-quality, continuous life-long care in the appropriate setting...
October 11, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29028633/acute-kidney-injury-in-congenital-heart-disease
#10
Katja M Gist, David M Kwiatkowski, David S Cooper
PURPOSE OF REVIEW: Acute kidney injury (AKI) is associated with significant morbidity and mortality in patients with congenital heart disease undergoing cardiac surgery or in pediatric patients with congestive heart failure. RECENT FINDINGS: This review describes the definition and various manifestations of AKI, the impact of biomarkers on the diagnosis of AKI, the importance of fluid overload as a consequence of AKI and its long-term impact. SUMMARY: There are novel biomarkers for AKI detection that should facilitate early recognition and intervention to prevent or attenuate the effects of AKI and fluid overload...
October 11, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29028466/is-acute-care-oriented-research-ethical-in-resource-limited-settings
#11
Anwar D Jackson, Harold W Neighbors
In this case scenario, a medical student, Jenny, is conducting congenital heart disease research in a resource-limited setting faced with water insecurity. She has concerns about how ethical it is for her to conduct advanced clinical research in a region with more basic health needs. The first commentary argues that advanced clinical research in resource-limited settings follows the ethical principle of beneficence and interactional justice but violates the principle of distributive justice. The second commentary questions whether beneficence is enough, since the Belmont Report states that beneficence is the obligation to simultaneously reduce harm and increase benefit...
October 1, 2017: AMA Journal of Ethics
https://www.readbyqxmd.com/read/29027708/advancing-prenatal-detection-of-congenital-heart-disease-a-novel-screening-protocol-improves-early-diagnosis-of-complex-congenital-heart-disease
#12
Karen M Letourneau, David Horne, Reeni N Soni, Keith R McDonald, Fern C Karlicki, Randy R Fransoo
OBJECTIVES: Prenatal diagnosis of complex congenital heart disease (CHD) during routine obstetric ultrasound (US) examinations improves postnatal outcomes, but sensitivity is low (<40%). Our objective was to improve our prenatal detection of complex CHD with implementation of a specific screening protocol. METHODS: From January 2003 to December 2013, 506 consecutive confirmed cases of complex CHD in the province of Manitoba, Canada, were analyzed to compare the sensitivity and positive predictive value of prenatal US detection of complex CHD before and after the introduction of a novel prenatal screening protocol...
October 13, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/29026988/pulmonary-annular-motion-velocity-reflects-right-ventricular-outflow-tract-function-in-children-with-surgically-repaired-congenital-heart-disease
#13
Yasunobu Hayabuchi, Akemi Ono, Yukako Homma, Shoji Kagami
Right ventricular (RV) dysfunction is generally evaluated using analyses of tricuspid annular motion. However, it represents only one aspect of RV performance. Whether measuring pulmonary annular motion velocity could serve as a novel way to evaluate global RV and/or RV outflow tract (RVOT) performance in pediatric congenital heart disease (CHD) patients with surgically repaired RVOT was evaluated. In this prospective study, tissue Doppler-derived pulmonary annular motion velocity was measured in children (aged 2-5 years) with RVOT reconstruction (RVOTR group, n = 48) and age-matched healthy children (Control, n = 60)...
October 12, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/29025761/genome-wide-association-study-to-find-modifiers-for-tetralogy-of-fallot-in-the-22q11-2-deletion-syndrome-identifies-variants-in-the-gpr98-locus-on-5q14-3
#14
Tingwei Guo, Gabriela M Repetto, Donna M McDonald McGinn, Jonathan H Chung, Hiroko Nomaru, Christopher L Campbell, Anna Blonska, Anne S Bassett, Eva W C Chow, Elisabeth E Mlynarski, Ann Swillen, Joris Vermeesch, Koen Devriendt, Doron Gothelf, Miri Carmel, Elena Michaelovsky, Maude Schneider, Stephan Eliez, Stylianos E Antonarakis, Karlene Coleman, Aoy Tomita-Mitchell, Michael E Mitchell, M Cristina Digilio, Bruno Dallapiccola, Bruno Marino, Nicole Philip, Tiffany Busa, Leila Kushan-Wells, Carrie E Bearden, Małgorzata Piotrowicz, Wanda Hawuła, Amy E Roberts, Flora Tassone, Tony J Simon, Esther D A van Duin, Thérèse A van Amelsvoort, Wendy R Kates, Elaine Zackai, H Richard Johnston, David J Cutler, A J Agopian, Elizabeth Goldmuntz, Laura E Mitchell, Tao Wang, Beverly S Emanuel, Bernice E Morrow
BACKGROUND: The 22q11.2 deletion syndrome (22q11.2DS; DiGeorge syndrome/velocardiofacial syndrome) occurs in 1 of 4000 live births, and 60% to 70% of affected individuals have congenital heart disease, ranging from mild to severe. In our cohort of 1472 subjects with 22q11.2DS, a total of 62% (n=906) have congenital heart disease and 36% (n=326) of these have tetralogy of Fallot (TOF), comprising the largest subset of severe congenital heart disease in the cohort. METHODS AND RESULTS: To identify common genetic variants associated with TOF in individuals with 22q11...
October 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29025208/an-atypical-case-of-noonan-syndrome-with-kras-mutation-diagnosed-by-targeted-exome-sequencing
#15
Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin
Noonan syndrome (NS) is a genetic disorder caused by autosomal dominant inheritance and is characterized by a distinctive facial appearance, short stature, chest deformity, and congenital heart disease. In individuals with NS, germline mutations have been identified in several genes involved in the RAS/mitogen-activated protein kinase signal transduction pathway. Because of its clinical and genetic heterogeneity, the conventional diagnostic protocol with Sanger sequencing requires a multistep approach. Therefore, molecular genetic diagnosis using targeted exome sequencing (TES) is considered a less expensive and faster method, particularly for patients who do not fulfill the clinical diagnostic criteria of NS...
September 2017: Annals of Pediatric Endocrinology & Metabolism
https://www.readbyqxmd.com/read/29021450/the-efficacy-of-a-genetic-analysis-of-the-bmpr2-gene-in-a-patient-with-severe-pulmonary-arterial-hypertension-and-an-atrial-septal-defect-treated-with-bilateral-lung-transplantation
#16
Shunsuke Tatebe, Koichiro Sugimura, Tatsuo Aoki, Saori Yamamoto, Nobuhiro Yaoita, Hideaki Suzuki, Haruka Sato, Katsuya Kozu, Ryo Konno, Kimio Satoh, Koji Fukuda, Osamu Adachi, Ryoko Saito, Norifumi Nakanishi, Hiroko Morisaki, Kotaro Oyama, Yoshikatsu Saiki, Yoshinori Okada, Hiroaki Shimokawa
Severe pulmonary arterial hypertension (PAH) rarely develops in children with an atrial septal defect (ASD), even those with a large defect. We herein report the case of a 27-year-old man with a moderate-sized secundum ASD and right ventricular failure due to severe PAH, which developed in his early teens. He was diagnosed as having a genetic mutation of the BMPR2 gene and was successfully treated with bilateral lung transplantation with ASD path closure. In patients with congenital heart disease, a genetic analysis may provide information about the lifetime risk of developing PAH...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29021403/heterozygous-mutations-affecting-the-protein-kinase-domain-of-cdk13-cause-a-syndromic-form-of-developmental-delay-and-intellectual-disability
#17
Mark J Hamilton, Richard C Caswell, Natalie Canham, Trevor Cole, Helen V Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury-Ecob, Soo-Mi Park, Leema Robert, Cecilie F Rustad, Emma Wakeling, Andrew O M Wilkie, The Deciphering Developmental Disorders Study, Stephen R F Twigg, Mohnish Suri
INTRODUCTION: Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations. METHODS: Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause. RESULTS: Our cohort comprised 16 individuals aged 4-16 years. All had developmental delay, including six with autism spectrum disorder...
October 11, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29020360/epidemiology-clinical-features-and-outcome-of-infective-endocarditis-due-to-abiotrophia-spp-and-granulicatella-spp-report-of-76-cases-2000-2015
#18
Adrián Téllez, Juan Ambrosioni, Jaume Llopis, Juan M Pericàs, Carles Falces, Manel Almela, Cristina Garcia de la Mària, Marta Hernandez-Meneses, Bàrbara Vidal, Elena Sandoval, Eduard Quintana, David Fuster, José M Tolosana, Francesc Marco, Asunción Moreno, José M Miro
Background: Infective endocarditis (IE) caused by Abiotrophia (ABI) and Granulicatella (GRA) is poorly studied. This work aims to describe and compare the main features of ABI and GRA IE. Methods: We performed a retrospective study of 12 IE institutional cases of GRA or ABI and of 64 cases published in the literature (overall, 38 ABI and 38 GRA IE cases). Results: ABI/GRA IE represented 1.51% of IE cases in our institution between 2000-2015, compared to 0...
August 19, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29018804/editorial-the-developments-of-hybrid-surgical-strategies-for-congenital-heart-disease
#19
EDITORIAL
Filippo Rapetto, Damien Kenny, Massimo Caputo
No abstract text is available yet for this article.
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/29016882/intra-atrial-re-entrant-tachycardia-in-patients-with-congenital-heart-disease-factors-associated-with-disease-severity
#20
Ivo Roca-Luque, Nuria Rivas Gándara, Laura Dos Subirà, Jaume Francisco Pascual, Jordi Pérez-Rodon, Antònia Pijuan Domenech, Ma Teresa Subirana, Berta Miranda, Alba Santos Ortega, Jaume Casaldàliga Ferrer, David García-Dorado García, Angel Moya Mitjans
Aim: Intra-atrial re-entrant tachycardia (IART) is a common complication in patients with congenital heart disease (CHD) and is related to increased morbidity and mortality. Few reports have been published about factors associated to IART severity. The aim of this study is to analyse factors associated to severe clinical presentation of IART. Methods and Results: Observational study of all consecutive CHD patients who underwent a first IART ablation from January 2009 to December 2015 (94 patients, 39...
July 28, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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