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Congenital cardiac

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https://www.readbyqxmd.com/read/28636109/xq26-1-26-3-duplication-including-mospd1-and-gpc3-identified-in-boy-with-short-stature-and-double-outlet-right-ventricle
#1
Yukiko Hirota, Takaomi Minami, Tomoyuki Sato, Akiko Yokomizo, Auimi Matsumoto, Masahide Goto, Eriko Jinbo, Takanori Yamamgata
Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA)...
June 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28635575/-high-risk-obstetrics-in-tertiary-centres-anaesthetist-hybrid-operating-suite-and-obstetric-critical-care-unit
#2
C D van der Marel, A J Eggink, R J Stolker
The frequency of pregnancy-related morbidity has increased over recent decades, as has the number of patients with complex congenital cardiac anomalies reaching fertile age, resulting in an increasing number of high-risk pregnancies. In order to optimalise maternal and foetal outcome in these patients, not only is the availability of optimal in-hospital facilities (e.g. obstetric critical care unit, hybrid operating suite) important, but also a multidisciplinary approach which is mandatory for successful maternal and foetal outcome...
2017: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/28632654/an-overview-of-cardiac-computed-tomography-in-adults-with-congenital-heart-disease
#3
Pal Suranyi, Akos Varga-Szemes, Anthony M Hlavacek
Familiarity with congenital heart disease (CHD) and its manifestations in adults is becoming increasingly important for the practicing cardiothoracic imager. The use of computed tomographic angiography is becoming commonplace not only in adults with a history and subsequent interventions for CHD as a child but also in de novo detection of-typically-milder, survivable forms of CHD, which are clinically suspected because of declining cardiac performance, cardiac events, or murmurs. Occasionally, adult CHD (ACHD) is found incidentally on scans performed for other indications (eg, trauma or neoplasm staging) because of improvements in computed tomographic technology and advanced visualization...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632653/imaging-adults-with-congenital-heart-disease-part-ii-advanced-cmr-techniques
#4
Anurag Sahu, Timothy C Slesnick
Because of great strides in medical care, survival into adulthood has become a common expectation in patients suffering from nearly all forms of congenital heart disease. As this aging population expands, the utilization of cardiac magnetic resonance imaging in their care continues to grow. Magnetic resonance technology has developed exponentially over the last 2 decades, and several advanced techniques for imaging adults with congenital heart disease have moved from the purely research arena into routine clinical care...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632652/utility-of-cardiac-magnetic-resonance-imaging-in-the-management-of-adult-congenital-heart-disease
#5
Giuseppe Muscogiuri, Aurelio Secinaro, Paolo Ciliberti, Megan Fuqua, Arni Nutting
The increasing number of patients with adult congenital heart disease (ACHD) calls for the development of noninvasive imaging techniques that allow a long-term evaluation of native and postsurgical anatomy and function. Echocardiography remains the imaging modality of choice for congenital heart disease, but it is affected by limited acoustic windows and poor tissue characterization. Cardiac computed tomography and cardiac catheter angiography are 2 valid alternatives for the anatomic and functional assessment of ACHD; however, both use ionizing radiation, and cardiac catheter angiography requires an invasive approach...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632650/advanced-cardiac-imaging-in-adults-with-congenital-heart-disease-the-great-wave
#6
Anthony M Hlavacek, U Joseph Schoepf
No abstract text is available yet for this article.
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#7
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28629628/left-ventricular-outflow-tract-obstruction-and-its-impact-on-systolic-ventricular-function-and-exercise-capacity-in-adults-with-a-subaortic-right-ventricle
#8
Annina Stauber, Céline Wey, Matthias Greutmann, Daniel Tobler, Kerstin Wustmann, Andreas Wahl, Emanuela R Valsangiacomo Buechel, Matthias Wilhelm, Markus Schwerzmann
BACKGROUND: In biventricular hearts the filling and contractility of one ventricle affects the performance of the other. In this study, we compared right ventricular systolic function and exercise capacity in patients with a subaortic right ventricle (RV) in relation to the presence of a left ventricular outflow tract obstruction (LVOTO). METHODS: Retrospective chart review of adults with congenitally corrected transposition of the great arteries (ccTGA) or with a previous atrial switch procedure for complete TGA (D-TGA)...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28629280/absent-ductus-venosus-case-series-from-two-tertiary-centres
#9
Giuseppe Maria Maruotti, Gabriele Saccone, M D Andrea Ciardulli, Laura Letizia Mazzarelli, Vincenzo Berghella, M D Pasquale Martinelli
INTRODUCTION: Congenital absence of the ductus venosus (ADV) is a rare vascular anomaly often associated with fetal cardiac and extracardiac anomalies, aneuploidies, and hydrops. The prognosis depends on the patterns of abnormal venous circulation, on the associated malformations and on chromosomal aberrations. METHODS: We performed a retrospective audit of all consecutive cases with ADV referred in our centres and analysed the outcomes. RESULTS: A total of six cases with prenatally diagnosed ADV were identified...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28628748/does-young-age-really-put-the-heart-at-risk
#10
Michael P Belanger, Luke Yang Tan, Carin Wittnich
Despite significant advances in the management and treatment of heart disease in children, there continue to be patients who have worse outcomes than might be expected. A number of risk factors that could be responsible have been identified. Evidence based findings will be reviewed including whether young age and/or reduced body weight exacerbate these responses. For example, newborn children undergoing congenital cardiac surgery are known to have worse outcomes than older children. Evidence exists that newborn hearts do not tolerate ischemia as well as adults; developing irreversible injury sooner and exhibiting at risk metabolic profiles...
June 19, 2017: Canadian Journal of Physiology and Pharmacology
https://www.readbyqxmd.com/read/28628610/outcome-of-cardiac-surgery-in-patients-with-congenital-heart-disease-in-england-between-1997-and-2015
#11
Aleksander Kempny, Konstantinos Dimopoulos, Anselm Uebing, Gerhard-Paul Diller, Ulrich Rosendahl, George Belitsis, Michael A Gatzoulis, Stephen J Wort
BACKGROUND: The number of patients with congenital heart disease (CHD) is increasing worldwide and most of them will require cardiac surgery, once or more, during their lifetime. The total volume of cardiac surgery in CHD patients at a national level and the associated mortality and predictors of death associated with surgery are not known. We aimed to investigate the surgical volume and associated mortality in CHD patients in England. METHODS: Using a national hospital episode statistics database, we identified all CHD patients undergoing cardiac surgery in England between 1997 and 2015...
2017: PloS One
https://www.readbyqxmd.com/read/28626825/phace-s-syndrome-report-of-a-case-with-new-ocular-and-systemic-manifestations
#12
Raheleh Assari, Vahid Ziaee, Sasan Moghimi, Mohammad Reza Akbari, Arash Mirmohammadsadeghi
PURPOSE: To describe an infant with PHACE(S) syndrome [posterior fossa anomalies (P), hemangiomas (H), arterial anomalies (A), cardiac abnormalities and coarctation of aorta (C), eye abnormalities (E), and the sternal defects (S)] with unusual strabismus, congenital glaucoma, and new systemic manifestations. METHODS: A 6-month-old girl was referred with large hemangiomas on the left side of the face. RESULTS: In the ocular examination, right esotropia and hypotropia, and limitation of elevation in adduction in the right eye were seen...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28626087/effect-of-obesity-and-underweight-status-on-perioperative-outcomes-of-congenital-heart-operations-in-children-adolescents-and-young-adults-an-analysis-of-data-from-the-society-of-thoracic-surgeons-database
#13
Michael L O'Byrne, Sunghee Kim, Christoph P Hornik, Babatunde A Yerokun, Roland A Matsouaka, Jeffrey P Jacobs, Marshall L Jacobs, Richard A Jonas
Background -Extreme BMI (either very high or very low) has been associated with increased risk of adverse perioperative outcome in adults undergoing cardiac surgery. The effect of body-mass index (BMI) on perioperative outcomes in congenital heart disease patients has not been evaluated. Methods -A multicenter retrospective cohort study was performed studying patients 10-35 years undergoing a congenital heart disease operation in the Society of Thoracic Surgeons Congenital Heart Surgery Database between 1/1/2010-12/31/2015...
June 16, 2017: Circulation
https://www.readbyqxmd.com/read/28626076/cardiac-fibroblast-transcriptome-analyses-support-a-role-for-interferogenic-profibrotic-and-inflammatory-genes-in-anti-ssa-ro-associated-congenital-heart-block
#14
Robert M Clancy, Androo J Markham, Tanisha Jackson, Sara E Rasmussen, Miroslav Blumenberg, Jill P Buyon
The signature lesion of SSA/Ro autoantibody-associated congenital heart block (CHB) is fibrosis and a macrophage infiltrate, supporting an experimental focus on cues influencing the fibroblast component. The transcriptomes of human fetal cardiac fibroblasts were analyzed using two complementary approaches. Cardiac injury conditions were simulated in vitro by incubating human fetal cardiac fibroblasts with supernatants from macrophages transfected with the SSA/Ro-associated hY3. The top ten upregulated transcripts in the stimulated fibroblasts reflected a type I interferon (IFN) response (e...
June 16, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28625174/quantification-of-cardiomyocyte-alignment-from-three-dimensional-3d-confocal-microscopy-of-engineered-tissue
#15
William J Kowalski, Fangping Yuan, Takeichiro Nakane, Hidetoshi Masumoto, Marc Dwenger, Fei Ye, Joseph P Tinney, Bradley B Keller
Biological tissues have complex, three-dimensional (3D) organizations of cells and matrix factors that provide the architecture necessary to meet morphogenic and functional demands. Disordered cell alignment is associated with congenital heart disease, cardiomyopathy, and neurodegenerative diseases and repairing or replacing these tissues using engineered constructs may improve regenerative capacity. However, optimizing cell alignment within engineered tissues requires quantitative 3D data on cell orientations and both efficient and validated processing algorithms...
June 19, 2017: Microscopy and Microanalysis
https://www.readbyqxmd.com/read/28624463/insights-from-genotype-phenotype-correlations-by-novel-speg-mutations-causing-centronuclear-myopathy
#16
Haicui Wang, Claudia Castiglioni, Ayşe Kaçar Bayram, Fabiana Fattori, Serdar Pekuz, Diego Araneda, Hüseyin Per, Ricardo Erazo, Hakan Gümüş, Suzan Zorludemir, Kerstin Becker, Ximena Ortega, Jorge Alfredo Bevilacqua, Enrico Bertini, Sebahattin Cirak
Centronuclear myopathies (CNM) are a clinically and genetically heterogeneous group of congenital myopathies, defined histologically by increased number of fibres with centrally located nuclei, and type I fibre predominance in muscle biopsy. Myotubular myopathy, the X-linked form of CNM caused by mutations in the phosphoinositide phosphatase MTM1, is histologically characteristic since muscle fibres resemble myotubes. Here we present two unrelated patients with CNM and typical myotubular fibres in the muscle biopsy caused by mutations in striated muscle preferentially expressed protein kinase (SPEG)...
May 24, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28624249/the-role-of-3-d-heart-models-in-planning-and-executing-interventional-procedures
#17
REVIEW
Elena K Grant, Laura J Olivieri
Percutaneous interventions aimed at addressing congenital and structural heart disease are simultaneously becoming more common and more complex as time progresses. An increasing number of heart defects that had previously required open heart surgery can now be successfully addressed in the cardiac catheterization laboratory. Adequate preprocedural preparation for these novel, complex procedures is critical to ensure their success. Diagnostic data can be collected before the intervention and displayed in multiple formats during the procedure...
February 24, 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28622971/utilization-patterns-of-extracorporeal-membrane-oxygenation-in-neonates-in-the-united-states-1997-2012
#18
Ashley Y Song, Hsuan-Hsiu Annie Chen, Rachel Chapman, Ameish Govindarajan, Jeffrey S Upperman, Rita V Burke, James Stein, Philippe S Friedlich, Ashwini Lakshmanan
BACKGROUND: Extracorporeal membrane oxygenation (ECMO) remains one of the most intensive therapies for newborns in the United States. However, there is limited information on resource utilization for neonates receiving ECMO. METHODS: We conducted a retrospective data analysis of the Kids' Inpatient Database from 1997 to 2012. Bivariate and multivariate analysis was completed to identify predictors of LOS, hospital costs and mortality. Cardiac and non-cardiac diagnoses of neonates receiving ECMO were also included in the bivariate and multivariable analysis...
June 1, 2017: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/28622145/clinical-analyses-of-383-cases-with-maternal-cardiac-diseases
#19
Emine Aydin, Ozgur Ozyuncu, Dila Kasapoglu, Gokcen Orgul, Necla Ozer, Murat Yurdakok, M Sinan Beksac
AIM: To evaluate the pregnancy outcomes of women with heart disease. MATERIALS AND METHODS: In this retrospective study, 383 pregnant women with cardiac diseases were examined. The cases were classified according to the World Health Organization (WHO) classification. The distribution of the cases according to class, congenital heart diseases, mean birthweight, mean gestational week at delivery, type of delivery [cesarean section (CS) or vaginal delivery], and cardivascular events (during pregnancy and puerperium) were evaluated...
June 5, 2017: Journal of Perinatal Medicine
https://www.readbyqxmd.com/read/28621042/clinical-evaluation-of-anomalous-aortic-origin-of-a-coronary-artery-aaoca
#20
Silvana Molossi, Hitesh Agrawal
The clinical evaluation of patients with an anomalous aortic origin of a coronary artery (AAOCA), a congenital abnormality of the origin or course of a coronary artery that arises from the aorta, is challenging given its first presentation being sudden cardiac arrest in about half of the patients. Symptoms of chest pain, shortness of breath and syncope during exertion should be of concern in evaluating young athletes and nonathletes. The lack of abnormal signs on the physical exam and electrocardiogram further adds to the difficulty in establishing the diagnosis...
June 16, 2017: Congenital Heart Disease
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