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Congenital heart disease

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https://www.readbyqxmd.com/read/28350721/a-rare-case-of-cor-triatriatum-leading-to-respiratory-failure-and-shock-in-an-8-month-old
#1
Catherine Burger
An 8-month-old boy presents with 1 week of gradually worsening respiratory distress. After chest radiograph shows bilateral airspace opacities, he is treated for pneumonia with antibiotics and intravenous fluids. Shortly after this, he decompensates requiring intubation, followed by cardiopulmonary support with pressors and eventually extracorporeal membrane oxygenation. Bedside ultrasound then shows an additional congenital membrane in the left atrium obstructing pulmonary venous return and thought to have caused his original presentation and subsequent decompensation...
March 27, 2017: Pediatric Emergency Care
https://www.readbyqxmd.com/read/28346832/tcf21-rs12190287-polymorphisms-are-associated-with-ventricular-septal-defects-in-a-chinese-population
#2
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
#3
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/28344686/comparison-of-image-quality-diagnostic-accuracy-and-radiation-dose-between-flash-model-and-retrospective-ecg-triggered-protocols-in-dual-source-computed-tomography-dsct-in-congenital-heart-diseases
#4
Rong Wang, Xiang-Jiu Xu, Gang Huang, Xing Zhou, Wen-Wen Zhang, Ya-Qiong Ma, Xiao-Na Zuo
BACKGROUND: Dual source computed tomography (DSCT) plays an important role in the diagnosis of congenital heart diseases (CHD). However, the issue of radiation-related side effects constitutes a wide public concern. The aim of the study was to explore the differences in diagnostic accuracy, radiation dose and image quality between a prospectively ECG - triggered high - pitch spiral acquisition (flash model) and a retrospective ECG-gated protocol of DSCT used for the detection of CHD. MATERIAL/METHODS: The study included 58 patients with CHD who underwent a DSCT examination, including two groups of 29 patients in each protocol...
2017: Polish Journal of Radiology
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
#5
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/28344611/percutaneous-pulmonary-valve-implantation-state-of-the-art-and-polish-experience
#6
REVIEW
Elżbieta K Biernacka, Witold Rużyłło, Marcin Demkow
Percutaneous pulmonary valve implantation (PPVI) is a relatively new method of treating patients with right ventricular outflow tract (RVOT) dysfunction after surgical repair of congenital heart disease. Since its introduction in 2000 by Bonhoeffer, more than ten thousand PPVI procedures have been performed worldwide. Indications for PPVI have been adapted from those accepted for surgical intervention. Two types of valves are being used: Melody Medtronic available in diameters 16 mm and 18 mm and the family of Edwards SAPIEN valves 23, 26 and 29...
2017: Postępy W Kardiologii Interwencyjnej, Advances in Interventional Cardiology
https://www.readbyqxmd.com/read/28343948/left-ventricular-non-compaction-a-cardiomyopathy-with-acceptable-prognosis-in-children
#7
Tao Tian, Yankun Yang, Lanlan Zhou, Fang Luo, Yuehua Li, Peng Fan, Xueqi Dong, Yaxin Liu, Jingang Cui, Xianliang Zhou
BACKGROUND: Data on children with left ventricular non-compaction (LVNC) is sparse. The purpose of this study was to evaluate its clinical profiles in a population of Chinese children. METHODS: From January 2010 to March 2016, consecutive Chinese children (aged <18 years) with LVNC diagnosed by cardiovascular magnetic resonance (CMR) were prospectively recruited at Fuwai Hospital. RESULTS: A total of 41 Chinese children (male: 28%; mean age: 14±4years) were included in this study...
March 1, 2017: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#8
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28343597/national-trends-and-in-hospital-outcomes-in-pregnant-women-with-heart-disease-in-the-united-states
#9
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/28342658/educational-needs-of-adolescents-with-congenital-heart-disease-impact-of-a-transition-intervention-programme
#10
Magalie Ladouceur, Johanna Calderon, Maladon Traore, Radhia Cheurfi, Christine Pagnon, Diala Khraiche, Fanny Bajolle, Damien Bonnet
BACKGROUND: Adolescents and young adults with congenital heart disease (CHD) have complex health needs and require lifelong follow-up. Interventions to facilitate the paediatric-to-adult healthcare transition are recommended, but outcomes remain largely under-investigated. AIMS: To identify the educational needs and the impact of a transition intervention on knowledge and self-management skills in adolescents and young adults with CHD. METHODS: From September 2014 to May 2015, 115 adolescents and young adults with CHD (mean age 17±2 years; 47 girls) were consecutively enrolled...
March 22, 2017: Archives of Cardiovascular Diseases
https://www.readbyqxmd.com/read/28341902/red-flags-for-maltese-adults-with-congenital-heart-disease-poorer-dental-care-and-less-sports-participation-compared-to-other-european-patients-an-approach-is-substudy
#11
Maryanne Caruana, Silke Apers, Adrienne H Kovacs, Koen Luyckx, Corina Thomet, Werner Budts, Maayke Sluman, Katrine Eriksen, Mikael Dellborg, Malin Berghammer, Bengt Johansson, Alexandra Soufi, Edward Callus, Philip Moons, Victor Grech
Studies in recent years have explored lifestyle habits and health-risk behaviours in adult congenital heart disease (ACHD) patients when compared to controls. The aim of this study was to investigate differences in lifestyle habits between Maltese and other European ACHD patients. Data on alcohol consumption, cigarette smoking, substance misuse, dental care and physical activity collected in 2013-2015 during "Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease-International Study" (APPROACH-IS) were analysed...
March 24, 2017: Pediatric Cardiology
https://www.readbyqxmd.com/read/28340978/adult-congenital-heart-disease-nurse-coordination-essential-skills-and-role-in-optimizing-team-based-care-a-position-statement-from-the-international-society-for-adult-congenital-heart-disease-isachd
#12
Christina Sillman, Joanne Morin, Corina Thomet, Deena Barber, Yoshiko Mizuno, Hsiao-Ling Yang, Theresa Malpas, Serena Francesca Flocco, Clare Finlay, Chi-Wen Chen, Yvonne Balon, Susan M Fernandes
BACKGROUND: Founded in 1992, the International Society for Adult Congenital Heart Disease (ISACHD) is the leading global organization of professionals dedicated to pursuing excellence in the care of adults with congenital heart disease (CHD) worldwide. Among ISACHD's objectives is to "promote a holistic team-based approach to the care of the adult with CHD that is comprehensive, patient-centered, and interdisciplinary" (http://www.isachd.org). This emphasis on team-based care reflects the fact that adults with CHD constitute a heterogeneous population with a wide spectrum of disease complexity, frequent association with other organ involvement, and varied co-morbidities and psychosocial issues...
February 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28337699/lung-ultrasound-is-comparable-with-chest-roentgenogram-for-diagnosis-of-community-acquired-pneumonia-in-hospitalised-children
#13
Krishna Kumar Yadav, Shally Awasthi, Anit Parihar
OBJECTIVE: To evaluate the accuracy of lung ultrasound (LUS) in comparison to chest roentgenogram (CXR) in hospitalised children with community-acquired pneumonia (CAP). METHODS: This study was a hospital based prospective observational study, conducted between January 2014 and December 2014. Hospitalised children aged 2 to 59 mo with community-acquired pneumonia were included in the study. The informed written consent was taken from parents (or legal guardian) before recruitment...
March 24, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28337558/improving-on-the-diagnostic-characteristics-of-echocardiography-for-pulmonary-hypertension
#14
Kathleen Broderick-Forsgren, Clemontina A Davenport, Joseph A Sivak, Charles William Hargett, Michael C Foster, Andrew Monteagudo, Alicia Armour, Sudarshan Rajagopal, Kristine Arges, Eric J Velazquez, Zainab Samad
This retrospective study evaluated the diagnostic characteristics of a combination of echocardiographic parameters for pulmonary hypertension (PH). Right ventricular systolic pressure (RVSP) estimation by echocardiography (echo) is used to screen for PH. However, the sensitivity of this method is suboptimal. We hypothesized that RVSP estimation in conjunction with other echo parameters would improve the value of echo for PH. The Duke Echo database was queried for adult patients with known or suspected PH who had undergone both echo and right heart catheterization (RHC) within a 24 h period between 1/1/2008 and 12/31/2013...
March 24, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28337429/investigating-cardiac-motion-patterns-using-synthetic-high-resolution-3d-cardiovascular-magnetic-resonance-images-and-statistical-shape-analysis
#15
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
#16
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
#17
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/28333672/case-report-pediatric-scar-management-after-open-heart-surgery
#18
Ha Phan, Beau Harger, Nick Estrada
Tetralogy of Fallot is a congenital disease caused by structural defects within the heart that can lead to cyanosis. The purpose of this case report is to discuss the use of PracaSil-Plus, a proprietary topical anhydrous silicone base containing pracaxi oil, in scar-management therapy, following open-heart surgery on a pediatric patient with tetralogy of Fallot. The Patient and Observer Scar Assessment Scale was the research instrument used to evaluate for efficacy of the scar therapy. Following 8 weeks of treatment with PracaSil-Plus, reduction in scores were observed for scar color, stiffness, thickness, and irregularity, with improvements of 87...
July 2016: International Journal of Pharmaceutical Compounding
https://www.readbyqxmd.com/read/28331377/management-of-systemic-lupus-erythematosus-during-pregnancy-challenges-and-solutions
#19
REVIEW
Caroline L Knight, Catherine Nelson-Piercy
Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease predominantly affecting women, particularly those of childbearing age. SLE provides challenges in the prepregnancy, antenatal, intrapartum, and postpartum periods for these women, and for the medical, obstetric, and midwifery teams who provide their care. As with many medical conditions in pregnancy, the best maternal and fetal-neonatal outcomes are obtained with a planned pregnancy and a cohesive multidisciplinary approach. Effective prepregnancy risk assessment and counseling includes exploration of factors for poor pregnancy outcome, discussion of risks, and appropriate planning for pregnancy, with consideration of discussion of relative contraindications to pregnancy...
2017: Open Access Rheumatology: Research and Reviews
https://www.readbyqxmd.com/read/28329947/-air-pollution-and-adverse-birth-outcome-in-china-a-comprehensive-review
#20
P F Zhu, Y Zhang, J Ban, T T Li, X M Shi
Objective: To summarize the progress in the research of the association between air pollution and adverse birth outcomes in China. Methods: A literature retrieval was conducted by using the databases of CNKI, Wanfang, Pubmed, Science Direct, and Web of Science to select relevant research papers published before 30(th), June 2016 in China according to inclusion criteria. Finally, 27 papers were included in analysis. Results: Exposure to particulate matter (PM(10)), sulfur dioxide (SO(2)), nitrogen dioxide (NO(2)), total suspended particles (TSP) during pregnancy might increase risk for low birth weight; exposure to PM(10), SO(2), NO(2) during pregnancy might increase risk for premature birth; and exposure to SO(2), NO(2), ozone (O(3)), and PM(10) during pregnancy might increase risk for congenital heart diseases and other birth defects...
March 10, 2017: Zhonghua Liu Xing Bing Xue za Zhi, Zhonghua Liuxingbingxue Zazhi
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