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https://www.readbyqxmd.com/read/28932495/tough-but-not-impossible-retrieval-of-large-atrial-septal-occluder-devices-embolized-to-left-atrium
#1
Rangaraj Ramalingam, Shivanand Patil, Natraj Setty, Jayashree Kharge, Beeresha Puttegowda, Jayasheelan Mambally Rachaiah, Cholenahally Nanjappa Manjunath
Atrial septal defect (ASD) is a congenital heart defect that is being increasingly treated using percutaneous interventions. However, these techniques are not devoid of complications. One such complication is device embolization. Removal of such closure device poses tremendous risk and consequent complications both by percutaneous retrieval and surgical removal. Herein, we present two cases of ASDs that were closed using atrial septal occluder, but the devices were subsequently embolized into left atrium. These devices were then percutaneously retrieved without any further complication or injury...
March 2017: Interventional Medicine & Applied Science
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#2
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28914499/copy-number-variants-of-ras-mapk-pathway-genes-in-patients-with-isolated-cryptorchidism
#3
F Rodríguez, C Vallejos, F Giraudo, N Unanue, M I Hernández, P Godoy, S Célis, R Martín-Arenas, M Palomares-Bralo, K E Heath, M T López, F Cassorla
Cryptorchidism is the most common congenital disorder in boys, but the cause for most cases remains unknown. Patients with Noonan Syndrome are characterized by a typical face, growth retardation, congenital heart defects, learning disabilities and cryptorchidism. Copy number variations of Ras/MAPK pathway genes are unusual in patients with several clinical features of Noonan Syndrome; however, they have not been studied in patients with only one feature of this condition, such as cryptorchidism. Our aim was to determine whether patients with isolated cryptorchidism exhibit Ras/MAPK pathway gene copy number variations (CNVs)...
September 2017: Andrology
https://www.readbyqxmd.com/read/28914109/stem-cell-therapy-for-the-systemic-right-ventricle
#4
Ming-Sing Si, Richard G Ohye
In specific forms of congenital heart defects and pulmonary hypertension, the right ventricle (RV) is exposed to systemic levels of pressure overload. The RV is prone to failure in these patients because of its vulnerability to chronic pressure overload. As patients with a systemic RV reach adulthood, an emerging epidemic of RV failure has become evident. Medical therapies proven for LV failure are ineffective in treating RV failure. Areas covered: In this review, the pathophysiology of the failing RV under pressure overload is discussed, with specific emphasis on the pivotal roles of angiogenesis and oxidative stress...
September 15, 2017: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/28911804/case-report-left-ventricular-noncompaction-cardiomyopathy-and-rasopathies
#5
John Lynn Jefferies, Carlos Enrique Prada, Juli Ann Sublett
The following is a case report of 6 patients with Noonan syndrome (NS) and/or a related RASsopathy that also have evidence of left ventricular noncompaction cardiomyopathy (LVNC). Noonan syndrome,a type of RASopathy, is an autosomal dominant disorder that is typically associated with congenital heart defects and hypertrophic cardiomyopathy. There have been minimal reports of Noonan syndrome or other RASopathy and the association of LVNC. This report promulgates 6 nonrelated cases of Noonan syndrome or unspecified RASopathy and LVNC...
September 11, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28903415/a-missense-mutation-in-tcn2-is-associated-with-decreased-risk-for-congenital-heart-defects-and-may-increase-cellular-uptake-of-vitamin-b12-via-megalin
#6
Peiqiang Li, Lijuan Huang, Yufang Zheng, Xuedong Pan, Rui Peng, Yueming Jiang, Richard H Finnell, Haijie Li, Bin Qiao, Hong-Yan Wang
Deregulation of folate and vitamin B12 (VB12) metabolism contributes to the risk of congenital heart defects (CHDs). Transcobalamin (TCN2) is essential for transporting VB12 from blood to cells as TCN2-bound VB12 (holo-TC) is the only form for somatic cellular uptake. In this study, we performed an association study between common polymorphisms in 46 one carbon metabolism genes and CHD in 412 CHDs and 213 controls. Only two significant association signals in coding regions were identified: FTCD c.1470C>T & TCN2 c...
August 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28902692/the-association-between-maternal-exposure-to-pollutant-particulate-matter-2-5-and-neonatal-congenital-heart-defects-a-systematic-review-protocol
#7
Katie C Hall, Jennifer C Robinson
The objective of this review is to identify if there is an association between maternal exposure to pollutant particulate matter 2.5 during the first trimester of pregnancy and neonatal congenital heart defects within the first year of life.
September 2017: JBI Database of Systematic Reviews and Implementation Reports
https://www.readbyqxmd.com/read/28899846/quality-of-patient-information-websites-about-congenital-heart-defects-mixed-methods-study-of-perspectives-among-individuals-with-experience-of-a-prenatal-diagnosis
#8
Tommy Carlsson, Ulla Melander Marttala, Barbro Wadensten, Gunnar Bergman, Ove Axelsson, Elisabet Mattsson
BACKGROUND: When a heart defect is prenatally diagnosed in the fetus, expectant parents experience a great need for information about various topics. After the diagnosis, the Web is used for supplemental information, and the scarcity of research calls attention to the need to explore patient information websites from the perspectives of the intended consumers. OBJECTIVE: The overarching aim of this study was to explore the quality of Swedish patient information websites about congenital heart defects, from the perspectives of individuals with experience of a prenatal diagnosis of congenital heart defect in the fetus...
September 12, 2017: Interactive Journal of Medical Research
https://www.readbyqxmd.com/read/28899436/educational-level-and-employment-status-in-adults-with-congenital-heart-disease
#9
Constanze Pfitzer, Paul C Helm, Lisa-Maria Rosenthal, Christoph Walker, Hannah Ferentzi, Ulrike M M Bauer, Felix Berger, Katharina R L Schmitt
Purpose Through this study we aimed to assess the educational level and employment status of adults with CHD in Germany. METHODS: Data were acquired from an online survey carried out in 2015 by the German National Register for Congenital Heart Defects. A total of 1458 adults with CHD participated in the survey (response rate: 37.6%). For 1198 participants, detailed medical information, such as main cardiac diagnosis and information from medical reports, was available. RESULTS: Of the participants surveyed (n=1198), 54...
September 13, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28888041/supplementation-with-the-methyl-donor-betaine-prevents-congenital-defects-induced-by-prenatal-alcohol-exposure
#10
Ganga Karunamuni, Megan M Sheehan, Yong Qiu Doughman, Shi Gu, Jiayang Sun, Youjun Li, James P Strainic, Andrew M Rollins, Michael W Jenkins, Michiko Watanabe
BACKGROUND: Despite decades of public education about dire consequences of prenatal alcohol exposure, drinking alcohol during pregnancy remains prevalent. As high as 40% of live-born infants exposed to alcohol during gestation and diagnosed with Fetal Alcohol Syndrome have congenital heart defects that can be life-threatening. In animal models, the methyl donor betaine, found in foods such as wheat bran, quinoa, beets and spinach, ameliorated neurobehavioral deficits associated with prenatal alcohol exposure (PAE) but effects on heart development are unknown...
September 9, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28884940/variable-phenotypic-expression-in-a-large-noonan-syndrome-family-segregating-a-novel-sos1-mutation
#11
Dorothée C van Trier, Tuula Rinne, Kees Noordam, Jos M Draaisma, Ineke van der Burgt
Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS. Different genotype-phenotype studies mention correlations between SOS1 mutations and some features, such as ectodermal abnormalities and specific facial features. We present a large NS family with a novel pathogenic mutation; SOS1 c.3134C>G, p...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28884922/congenital-heart-defects-in-molecularly-proven-kabuki-syndrome-patients
#12
Maria Cristina Digilio, Maria Gnazzo, Francesca Lepri, Maria Lisa Dentici, Elisa Pisaneschi, Anwar Baban, Chiara Passarelli, Rossella Capolino, Adriano Angioni, Antonio Novelli, Bruno Marino, Bruno Dallapiccola
The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%)...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28883797/genetic-bases-of-bicuspid-aortic-valve-the-contribution-of-traditional-and-high-throughput-sequencing-approaches-on-research-and-diagnosis
#13
REVIEW
Betti Giusti, Elena Sticchi, Rosina De Cario, Alberto Magi, Stefano Nistri, Guglielmina Pepe
Bicuspid aortic valve (BAV) is a common (0.5-2.0% of general population) congenital heart defect with increased prevalence of aortic dilatation and dissection. BAV has an autosomal dominant inheritance with reduced penetrance and variable expressivity. BAV has been described as an isolated trait or associated with syndromic conditions [e.g., Marfan Marfan syndrome or Loeys-Dietz syndrome (MFS, LDS)]. Identification of a syndromic condition in a BAV patient is clinically relevant to personalize aortic surgery indication...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28880458/determinants-of-platelet-count-in-pediatric-patients-with-congenital-cyanotic-heart-disease-role-of-immature-platelet-fraction
#14
Randa M Matter, Iman A Ragab, Alaa M Roushdy, Ahmed G Ahmed, Hanan H Aly, Eman A Ismail
OBJECTIVES: Congenital heart defects are common noninfectious causes of mortality in children. Bleeding and thrombosis are both limiting factors in the management of such patients. We assessed the frequency of thrombocytopenia in pediatric patients with congenital cyanotic heart disease (CCHD) and evaluated determinants of platelet count including immature platelet fraction (IPF) and their role in the pathogenesis of thrombocytopenia. METHODS: Forty-six children and adolescents with CCHD during pre-catheter visits were studied; median age was 20...
September 7, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/28878606/major-contribution-of-genomic-copy-number-variation-in-syndromic-congenital-heart-disease-the-use-of-mlpa-as-the-first-genetic-test
#15
Rejane A C Monteiro, Mariana L de Freitas, Gabrielle S Vianna, Valdirene T de Oliveira, Rafaella X Pietra, Luana C A Ferreira, Patrícia P O Rocha, Michele da S Gonçalves, Giovana da C César, Joziele de S Lima, Paula F V Medeiros, Juliana F Mazzeu, Fernanda S Jehee
Congenital heart disease (CHD) is the most common congenital disorder among live births. When associated with extracardiac abnormalities, it is characterized as a syndromic heart disease (syndromic CHD) and corresponds to 25% of all liveborn infants with a heart defect. The etiology in about 65% of the cases still remains unknown, and in about 35% of the patients, it is associated with genetic factors. In the present study, MLPA and SNP-array techniques were used to investigate a group of 47 patients with syndromic CHD...
August 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28878122/wnt11-regulates-cardiac-chamber-development-and-disease-during-perinatal-maturation
#16
Marlin Touma, Xuedong Kang, Fuying Gao, Yan Zhao, Ashley A Cass, Reshma Biniwale, Xinshu Xiao, Mansuoreh Eghbali, Giovanni Coppola, Brian Reemtsen, Yibin Wang
Ventricular chamber growth and development during perinatal circulatory transition is critical for functional adaptation of the heart. However, the chamber-specific programs of neonatal heart growth are poorly understood. We used integrated systems genomic and functional biology analyses of the perinatal chamber specific transcriptome and we identified Wnt11 as a prominent regulator of chamber-specific proliferation. Importantly, downregulation of Wnt11 expression was associated with cyanotic congenital heart defect (CHD) phenotypes and correlated with O2 saturation levels in hypoxemic infants with Tetralogy of Fallot (TOF)...
September 7, 2017: JCI Insight
https://www.readbyqxmd.com/read/28876373/minimally-invasive-epicardial-pacemaker-implantation-in-neonates-with-congenital-heart-block
#17
Roberto Costa, Katia Regina da Silva, Martino Martinelli Filho, Roger Carrillo
BACKGROUND: Few studies have characterized the surgical outcomes following epicardial pacemaker implantation in neonates with congenital complete atrioventricular block (CCAVB). OBJECTIVE: This study sought to assess the long-term outcomes of a minimally invasive epicardial approach using a subxiphoid access for pacemaker implantation in neonates. METHODS: Between July 2002 and February 2015, 16 consecutive neonates underwent epicardial pacemaker implantation due to CCAVB...
September 4, 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28875228/myocardial-deformation-assessed-by-longitudinal-strain-chamber-specific-normative-data-for-cmr-feature-tracking-from-the-german-competence-network-for-congenital-heart-defects
#18
Quanliang Shang, Shivani Patel, Michael Steinmetz, Andreas Schuster, David A Danford, Philipp Beerbaum, Samir Sarikouch, Shelby Kutty
PURPOSE: Left ventricular two-dimensional global longitudinal strain (LS) is superior to ejection fraction (EF) as predictor of outcome. We provide reference data for atrial and ventricular global LS during childhood and adolescence by CMR feature tracking (FT). METHODS: We prospectively enrolled 115 healthy subjects (56 male, mean age 12.4 ± 4.1 years) at a single institution. CMR consisted of standard two-dimensional steady-state free-precession acquisitions...
September 5, 2017: European Radiology
https://www.readbyqxmd.com/read/28867155/the-boundaries-of-fetal-cardiac-intervention-expand-or-tighten
#19
REVIEW
Laura Gellis, Wayne Tworetzky
Fetal cardiac intervention (FCI) is a relatively new and continually evolving field, and, for select cardiac defects, offers the potential to alter the progression of the disease and improve outcomes. It is a procedure that requires a collaborative effort between maternal-fetal medicine, interventional cardiology and fetal echo/ultrasound specialists, as well as fetal and maternal anesthesiologists, nursing specialists, and social workers. This article reviews the most recently reported data and advances in FCI...
August 31, 2017: Seminars in Fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28867027/macitentan-in-pulmonary-arterial-hypertension-associated-with-congenital-heart-defects
#20
EDITORIAL
Julie Wacker, Robert G Weintraub
No abstract text is available yet for this article.
October 2017: Heart, Lung & Circulation
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