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congenital cardiac disease

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https://www.readbyqxmd.com/read/28346832/tcf21-rs12190287-polymorphisms-are-associated-with-ventricular-septal-defects-in-a-chinese-population
#1
Liping Yang, Xiaobo Gao, Haiyan Luo, Qiuyu Huang, Dongmei Su, Xinyu Tan, Cailing Lu
AIMS: TCF21 knockout mice display cardiac defects, including ventricular septal defects (VSDs). Functional rs12190287 polymorphisms located within the 3' untranslated region (3'-UTR) of TCF21 were associated with a risk of coronary heart disease in the European and Eastern populations. However, whether rs12190287 polymorphisms in the TCF21-3'UTR confer predisposition to congenital heart disease (CHD) is unclear. METHODS: A case-control study was designed consisting of 781 nonsyndromic VSD patients and 867 non-CHD control subjects...
March 27, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28346005/plasma-coenzyme-q10-concentration-antioxidant-status-and-serum-n-terminal-pro-brain-natriuretic-peptide-concentration-in-dogs-with-various-cardiovascular-diseases-and-the-effect-of-cardiac-treatment-on-measured-variables
#2
Alenka Nemec Svete, Barbara Verk, Alenka Seliškar, Katerina Tomsič, Petra Jazbec Križman, Aleksandra Domanjko Petrič
OBJECTIVE To determine the plasma total antioxidant capacity, erythrocyte superoxide dismutase activity, whole blood glutathione peroxidase activity, and plasma coenzyme Q10 (CoQ10) concentration in dogs with various stages of cardiovascular diseases and in healthy dogs; assess the influence of cardiac treatment on the levels of antioxidant variables, plasma CoQ10 concentration, and serum N-terminal pro-brain natriuretic peptide (NT-proBNP) concentration, and determine any correlation between the disease severity (NT-proBNP concentration) and antioxidant variables or CoQ10 concentration...
April 2017: American Journal of Veterinary Research
https://www.readbyqxmd.com/read/28344652/molecular-cytogenetic-characterisation-of-a-novel-de-novo-ring-chromosome-6-involving-a-terminal-6p-deletion-and-terminal-6q-duplication-in-the-different-arms-of-the-same-chromosome
#3
Nikolai Paul Pace, Frideriki Maggouta, Melissa Twigden, Isabella Borg
BACKGROUND: Ring chromosome 6 is a rare sporadic chromosomal abnormality, associated with extreme variability in clinical phenotypes. Most ring chromosomes are known to have deletions on one or both chromosomal arms. Here, we report an atypical and unique ring chromosome 6 involving both a distal deletion and a distal duplication on the different arms of the same chromosome. CASE PRESENTATION: In a patient with intellectual disability, short stature, microcephaly, facial dysmorphology, congenital heart defects and renovascular disease, a ring chromosome 6 was characterised using array-CGH and dual-colour FISH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28343597/national-trends-and-in-hospital-outcomes-in-pregnant-women-with-heart-disease-in-the-united-states
#4
Fabio V Lima, Jie Yang, Jianjin Xu, Kathleen Stergiopoulos
Investigation of trends and outcomes in heart disease (HD) and pregnancy has been limited. We chose to identify the prevalence, trends, and outcomes of pregnant women with different forms of HD in the United States. Healthcare Cost and Utilization Project's National Inpatient Sample was screened for hospital admissions for delivery in pregnant women with HD from 2003 to 2012. Maternal clinical characteristics and outcomes were identified in women with and without HD, and in HD subtypes: congenital (CHD), valvular HD, cardiomyopathy, and pulmonary hypertension (PH)...
February 28, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28341055/obstetric-care-for-women-with-thalassemia
#5
REVIEW
Terence T Lao
Thalassemia is the commonest monogenic disease and manifests as severe anemia. It is increasingly encountered outside the Mediterranean region, Africa, Middle East, and Southeast Asia because of immigration. Pregnancy, previously uncommon in patients with homozygous β-thalassemia, is encountered increasingly because of improved management and assisted reproduction technology; however, preconceptional problems that include anemia, iron overload, cardiac dysfunction, thromboembolism, alloimmunization, infections, and endocrine and bone disorders, could influence maternal and obstetric outcome...
February 2017: Best Practice & Research. Clinical Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28337429/investigating-cardiac-motion-patterns-using-synthetic-high-resolution-3d-cardiovascular-magnetic-resonance-images-and-statistical-shape-analysis
#6
Benedetta Biffi, Jan L Bruse, Maria A Zuluaga, Hopewell N Ntsinjana, Andrew M Taylor, Silvia Schievano
Diagnosis of ventricular dysfunction in congenital heart disease is more and more based on medical imaging, which allows investigation of abnormal cardiac morphology and correlated abnormal function. Although analysis of 2D images represents the clinical standard, novel tools performing automatic processing of 3D images are becoming available, providing more detailed and comprehensive information than simple 2D morphometry. Among these, statistical shape analysis (SSA) allows a consistent and quantitative description of a population of complex shapes, as a way to detect novel biomarkers, ultimately improving diagnosis and pathology understanding...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28336264/genomic-imbalances-in-syndromic-congenital-heart-disease
#7
Miriam C Molck, Milena Simioni, Társis P Vieira, Ilária C Sgardioli, Fabíola P Monteiro, Josiane Souza, Agnes C Fett-Conte, Têmis M Félix, Isabella L Monlléo, Vera Lúcia Gil-da-Silva-Lopes
OBJECTIVE: To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). METHODS: 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). RESULTS: Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases...
March 20, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28335833/association-between-cardiovascular-risk%C3%A2-factors-and-aortic-stenosis-the-canheart-aortic-stenosis-study
#8
Andrew T Yan, Maria Koh, Kelvin K Chan, Helen Guo, David A Alter, Peter C Austin, Jack V Tu, Harindra C Wijeysundera, Dennis T Ko
BACKGROUND: Few longitudinal studies have delineated the association between traditional cardiovascular risk factors and development of aortic stenosis (AS). OBJECTIVES: The authors examined the association between traditional cardiovascular risk factors and incident severe AS in a large, unselected elderly population. METHODS: This observational cohort study used multiple linked health care population-based databases of individuals older than 65 years on April 1, 2002, without prior valvular disease, coronary artery disease, heart failure, cardiac arrhythmia, cerebrovascular disease, congenital heart disease, or admissions with cardiac symptoms...
March 28, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28329459/nineteen-years-of-adult-congenital-heart-surgery-in-a-single-center
#9
Madurra Perinpanayagam, Signe H Larsen, Kristian Emmertsen, Marianne B Møller, Vibeke E Hjortdal
BACKGROUND: Adults with congenital heart disease are a growing population. We describe surgical interventions, short- and long-term mortality and morbidity, and risk factors for adverse events in a population-based cohort. METHODS: Patients over or equal to 18 years with congenital heart disease who underwent cardiac surgery at Aarhus University Hospital, Denmark, from 1994 to 2012 were included in the study. Diagnoses, surgical procedures, postoperative complications, and survival were identified in hospital databases, medical records, and the Danish Civil Registration System...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28329454/adult-congenital-cardiac-care
#10
Brian E Kogon, Kati Miller, Paula Miller, Bahaaldin Alsoufi, Joshua M Rosenblum
BACKGROUND: The Adult Congenital Heart Association (ACHA) is dedicated to supporting patients with congenital heart disease. To guide patients to qualified providers and programs, it maintains a publicly accessible directory of dedicated adult congenital cardiac programs. We analyzed the directory in 2006 and 2015, aiming to evaluate the growth of the directory as a whole and to evaluate the growth of individual programs within the directory. We also hope this raises awareness of the growing opportunities that exist in adult congenital cardiology and cardiac surgery...
March 2017: World Journal for Pediatric & Congenital Heart Surgery
https://www.readbyqxmd.com/read/28329231/cardiac-protective-effects-of-remote-ischaemic-preconditioning-in-children-undergoing-tetralogy-of-fallot-repair-surgery-a-randomized-controlled-trial
#11
Qingping Wu, Tingting Wang, Shiqiang Chen, Quanjun Zhou, Haobo Li, Na Hu, Yinglu Feng, Nianguo Dong, Shanglong Yao, Zhengyuan Xia
Aims: Remote ischaemic preconditioning (RIPC) by inducing brief ischaemia in distant tissues protects the heart against myocardial ischaemia-reperfusion injury (IRI) in children undergoing open-heart surgery, although its effectiveness in adults with comorbidities is controversial. The effectiveness and mechanism of RIPC with respect to myocardial IRI in children with tetralogy of Fallot (ToF), a severe cyanotic congenital cardiac disease, undergoing open heart surgery are unclear. We hypothesized that RIPC can confer cardioprotection in children undergoing ToF repair surgery...
February 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28329105/medical-three-dimensional-printing-opens-up-new-opportunities-in-cardiology-and-cardiac-surgery
#12
Thomas Bartel, Andrew Rivard, Alejandro Jimenez, Carlos A Mestres, Silvana Müller
Advanced percutaneous and surgical procedures in structural and congenital heart disease require precise pre-procedural planning and continuous quality control. Although current imaging modalities and post-processing software assists with peri-procedural guidance, their capabilities for spatial conceptualization remain limited in two- and three-dimensional representations. In contrast, 3D printing offers not only improved visualization for procedural planning, but provides substantial information on the accuracy of surgical reconstruction and device implantations...
February 16, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28328585/mechanical-support-with-impella-during-malignant-arrhythmia-ablation-a-case-report-on-the-growing-trend-in-the-electrophysiology-laboratory
#13
Adam C Adler, Ramesh Kodavatiganti
Congenitally corrected transposition of the great arteries is a rare form of congenital heart disease in which the persistence of the right ventricle as the systemic ventricle leads to heart failure, tricuspid valve insufficiency, and arrhythmia. Supraventricular arrhythmias are especially common in these patients. We discuss the anesthetic management of a 33-year-old patient with congenitally corrected transposition of the great arteries who required a ventricular assist device to maintain cardiac output during ablation of supraventricular tachyarrythmia...
March 17, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#14
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326958/persistent-left-superior-vena-cava
#15
Vrinda Nair, Kamran Yusuf, Weiming Yu, Hafez AlAwad, Kathy Paul, Essa Al Awad
Persistent left superior vena cava (PLSVC) is a common cardiac anomaly associated with congenital heart diseases. A diagnosis of PLSVC usually warrants a detailed fetal echocardiography. Lesser known associations are the extra cardiac anomalies notably the upper airway and the gastrointestinal tract anomalies. We highlight here the importance of detailed fetal assessment for extra cardiac anomalies in addition to fetal echocardiography in fetuses diagnosed with PLSVC. We hereby present a preterm infant who presented with a triad of PLSVC, laryngeal atresia, and esophageal atresia...
March 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28325567/microvascular-surgery-in-the-congenital-cardiac-patient-a-case-series-exploring-feasibility-and-practical-applications
#16
John A LoGiudice, Karri Adamson, Nancy Ghanayem, Ronald K Woods, Michael E Mitchell
BACKGROUND: Pediatric congenital heart disease patients are at risk for vascular injuries during surgical procedures or when the arterial system is accessed for monitoring or diagnostic studies. Our treatment of emergent situations in this patient population using microvascular techniques shows the feasibility of such techniques. METHODS: A retrospective chart review of patients aged 0-18 years with congenital heart disease identified six patients who underwent microvascular surgery by the senior surgeon from June 2007 to May 2015...
February 17, 2017: Journal of Plastic, Reconstructive & Aesthetic Surgery: JPRAS
https://www.readbyqxmd.com/read/28325177/equine-cardiovascular-therapeutics
#17
REVIEW
Meg M Sleeper
Heart disease can be defined as any abnormality of the heart whether it is a cardiac dysrhythmia or structural heart disease, either congenital or acquired. Heart failure occurs when a cardiac abnormality results in the inability of the heart to pump enough blood to meet the body's needs. Heart disease can be present without leading to heart failure. Heart failure, however, is a consequence of heart disease. There are 4 main areas where the clinician can intervene to improve cardiac output with heart failure: preload, afterload, myocardial contractility, and heart rate...
April 2017: Veterinary Clinics of North America. Equine Practice
https://www.readbyqxmd.com/read/28321396/popular-hybrid-congenital-heart-procedures-without-cardiopulmonary-bypass
#18
REVIEW
Aamisha Gupta, Zahid Amin
As surgical and catheter interventions advance, patients with congenital heart disease are now offered alternative treatment options that cater to their individual needs. Furthermore, collaboration between interventional cardiologists and cardiac surgeons have led to the development of hybrid procedures, using the best techniques of each respective field to treat these complex cardiac entities from initial treatment in the pediatric patient to repeat intervention in the adult. We present a review of the increased popularity and trend in hybrid procedures in congenital heart disease without the use of cardiopulmonary bypass...
2017: Frontiers in Surgery
https://www.readbyqxmd.com/read/28318658/sudden-death-in-athletes
#19
Domenico Corrado, Alessandro Zorzi
Competitive sports activity is associated with an increased risk of sudden cardiovascular death (SCD) in adolescents and young adults with clinically silent cardiovascular disorders. While in middle-aged/senior athletes atherosclerotic coronary artery disease accounts for the vast majority of SCDs, in young athletes the spectrum of substrates is wider and includes inherited (cardiomyopathies) and congenital (anomalous origin of coronary arteries) structural heart diseases. Inherited ion channel diseases have been implicated in SCDs occurring with an apparently normal heart at autopsy...
March 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28318514/incorporating-comorbidity-within-risk-adjustment-for-uk-pediatric-cardiac-surgery
#20
Katherine L Brown, Libby Rogers, David J Barron, Victor Tsang, David Anderson, Shane Tibby, Thomas Witter, John Stickley, Sonya Crowe, Kate English, Rodney C Franklin, Christina Pagel
BACKGROUND: When considering early survival rates after pediatric cardiac surgery it is essential to adjust for risk linked to case complexity. An important but previously less well understood component of case mix complexity is comorbidity. METHODS: The National Congenital Heart Disease Audit data representing all pediatric cardiac surgery procedures undertaken in the United Kingdom and Ireland between 2009 and 2014 was used to develop and test groupings for comorbidity and additional non-procedure-based risk factors within a risk adjustment model for 30-day mortality...
March 15, 2017: Annals of Thoracic Surgery
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