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Congenital heart diseases

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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/28634025/impaired-cerebral-autoregulation-in-preoperative-newborn-infants-with-congenital-heart-disease
#2
Jodie K Votava-Smith, Christopher J Statile, Michael D Taylor, Eileen C King, Jesse M Pratt, David P Nelson, Erik C Michelfelder
OBJECTIVES: To characterize cerebral autoregulation (CA) in preoperative newborn infants with congenital heart disease (CHD). METHODS: This was a prospective, pilot study of term newborns with CHD who required intensive care. Continuous mean arterial blood pressure (MAP), cerebral tissue oxygen saturation (SCTO2) via near-infrared spectroscopy, and arterial oxygen saturation (SaO2) were collected. Significant low-frequency coherence between MAP and SCTO2 was used to define impaired CA in 20-minute epochs...
May 23, 2017: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28633370/therapeutic-catheterization-in-congenital-heart-disease-reflections-on-the-value-of-risk-scores
#3
Anselm Uebing, Michael A Gatzoulis, Michael L Rigby
No abstract text is available yet for this article.
June 13, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28633223/primary-pulmonary-vein-stenosis-outcomes-risk-factors-and-severity-score-in-a-multicentric-study
#4
David Kalfa, Emre Belli, Emile Bacha, Virginie Lambert, Duccio di Carlo, Martin Kostolny, Jukka Salminen, Matej Nosal, Alain Poncelet, Jurgen Horer, Hakan Berggren, Illya Yemets, Mark Hazekamp, Bohdan Maruszewski, George Sarris, Marco Pozzi, Tjark Ebels, François Lacour-Gayet
BACKGROUND: Primary pulmonary vein stenosis (PPVS) still carries a poor prognosis, and prognostic factors remain controversial. The aim of this study was to determine outcomes and prognostic factors after PPVS repair in the current era. METHODS: Thirty patients with PPVS and a normal pulmonary vein (PV) connection operated on in 10 European/North American centers (2000-2012) were included retrospectively. A specific PVS severity score was developed based on the assessment of each PV...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28632654/an-overview-of-cardiac-computed-tomography-in-adults-with-congenital-heart-disease
#5
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
#6
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
#7
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/28632651/imaging-in-adult-congenital-heart-disease
#8
Stephanie S Gaydos, Akos Varga-Szemes, Rochelle N Judd, Pal Suranyi, David Gregg
There has been tremendous growth in the population of adults with congenital heart disease (CHD) over the last few decades because of advances in medical care. Whereas some cases are cured during childhood, most patients instead undergo palliation, which leaves them at risk for late complications. Lifelong clinical follow-up involving serial multimodality imaging is helpful to monitor and guide the treatment of late complications. Imaging of these individuals is challenging because of their unique anatomy and therefore requires careful consideration on a case-by-case basis...
July 2017: Journal of Thoracic Imaging
https://www.readbyqxmd.com/read/28632650/advanced-cardiac-imaging-in-adults-with-congenital-heart-disease-the-great-wave
#9
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/28632506/adenotonsillectomy-for-the-management-of-pulmonary-hypertension-in-a-patient-with-complex-congenital-heart-disease-a-case-report
#10
Adam C Adler, Yuan-Jiun Nicole Chao
Pulmonary hypertension is a feared complication in congenital heart disease patients. Patients with pulmonary hypertension are at risk for major perioperative cardiopulmonary complications when undergoing any surgical procedure, especially airway and laparoscopic procedures. We present the anesthetic management for a 2-year old with Down syndrome and complex cyanotic congenital heart disease undergoing tonsillectomy and adenoidectomy for severe obstructive sleep apnea.
June 19, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28631156/diagnosis-of-secondary-pulmonary-lymphangiectasia-in-congenital-heart-disease-a-novel-role-for-chest-ultrasound-and-prognostic-implications
#11
Christopher Z Lam, Tanmay Anant Bhamare, Tamadhir Gazzaz, David Manson, Tilman Humpl, Mike Seed
BACKGROUND: Secondary pulmonary lymphangiectasia is a complication of congenital heart disease that results from chronic pulmonary venous obstruction. OBJECTIVES: We aimed to evaluate the performance of chest ultrasound (US) in diagnosing secondary pulmonary lymphangiectasia and to review the clinical course of children with secondary pulmonary lymphangiectasia. MATERIALS AND METHODS: Chest US was performed on 26 children with hypoplastic left heart syndrome, total anomalous pulmonary venous connection or cor triatriatum in a prospective observational study...
June 19, 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/28629661/cornelia-de-lange-syndrome-congenital-heart-disease-in-149-patients
#12
Ariadna Ayerza Casas, Beatriz Puisac Uriol, María Esperanza Teresa Rodrigo, María Hernández Marcos, Feliciano J Ramos Fuentes, Juan Pie Juste
INTRODUCTION: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. MATERIAL AND METHOD: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables...
June 16, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28629487/learning-and-memory-in-adolescents-with-critical-biventricular-congenital-heart-disease
#13
Adam R Cassidy, Jane W Newburger, David C Bellinger
OBJECTIVES: Although evidence exists of broadly defined memory impairment among adolescents with critical congenital heart disease (CHD), nuanced investigations of declarative memory in this at-risk population have not been conducted. This study had two primary aims: (1) to conduct a fine-grained analysis of a range of relevant learning and memory processes in adolescents with critical biventricular CHD, and (2) to identify risk, odds, and predictors of memory impairment. METHODS: Data were combined from two single-center studies of neurodevelopmental outcomes in critical CHD...
June 20, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28628748/does-young-age-really-put-the-heart-at-risk
#14
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
#15
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/28628576/the-insight-from-foresight-near-infrared-spectroscopy-in-cyanotic-congenital-heart-disease
#16
Adam C Adler, Stephen A Stayer
No abstract text is available yet for this article.
July 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28627006/parents-perceptions-during-the-transition-to-home-for-their-child-with-a-congenital-heart-defect-how-can-we-support-families-of-children-with-hypoplastic-left-heart-syndrome
#17
Sarita March
PURPOSE: The aim of the study was to explore the literature related to transitions in healthcare between the hospital and home that caregivers experience with a child who has a congenital heart defect (CHD), specifically related to hypoplastic left heart syndrome (HLHS). DESIGN AND METHODS: A systematic literature review was conducted searching OVID Medline, CINAHL, and PubMed to discover the caregivers' perceptions on their transitions between hospital care and home care of their child with a CHD...
June 18, 2017: Journal for Specialists in Pediatric Nursing: JSPN
https://www.readbyqxmd.com/read/28626595/williams-beuren-syndrome-and-congenital-lobar-emphysema-uncommon-association-with-common-pathology
#18
Timothy Andrew Walsh, Krishna Revanna Gopagondanahalli, Atul Malhotra
INTRODUCTION: Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. CASE PRESENTATION: We report another case of a male Caucasian newborn with nonspecific initial respiratory distress, with detection of CLE on repeat chest X-ray on Day 25 of life and concurrent ventricular septal defect, supravalvular aortic stenosis, and branch pulmonary stenosis, in whom a 7q11.23 deletion consistent with Williams-Beuren Syndrome was made...
2017: Case Reports in Pediatrics
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
#19
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
#20
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
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