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Cardiac congenital defects

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https://www.readbyqxmd.com/read/28515759/department-of-pediatric-cardiac-surgery-in-gdansk-in-its-new-location-previous-activity-and-perspectives-for-development
#1
Ireneusz Haponiuk, Maciej Chojnicki, Mariusz Steffens, Radosław Jaworski, Aneta Szofer-Sendrowska, Konrad Paczkowski, Ewelina Kwaśniak, Anna Romanowicz, Wiktor Szymanowicz, Katarzyna Gierat-Haponiuk
The Department of Pediatric Cardiac Surgery in Gdansk is the only pediatric cardiac surgery center in northern Poland providing comprehensive treatment to children with congenital heart defects. The Department of Pediatric Cardiac Surgery in Gdansk currently offers a full spectrum of advanced procedures of modern cardiac surgery and interventional cardiology dedicated to patients from infancy to adolescence. January 19, 2016 marked the official opening of its new location.
March 2017: Kardiochirurgia i Torakochirurgia Polska, Polish Journal of Cardio-Thoracic Surgery
https://www.readbyqxmd.com/read/28515370/acute-kidney-injury-following-cardiopulmonary-bypass-in-children%C3%A3-risk-factors-and-outcomes
#2
Seon Hwa Lee, Soo-Jin Kim, Hyung Joong Kim, Jae Sung Son, Ran Lee, Tae Gyoon Yoon
BACKGROUND: Acute kidney injury (AKI) is the most common and most serious complication following heart surgery. We aimed to determine the prevalence of, and risk factors for, AKI following pediatric cardiac surgery.Methods and Results:We retrospectively analyzed 135 patients aged ≤18 years who underwent cardiac surgery for congenital heart defects; by RACHS-1 category, 58 patients (43%) had an operative risk score ≥3. AKI was defined and classified using the pediatric pRIFLE criteria (Pediatric Risk, Injury, Failure, Loss, and End-stage Kidney Disease); 19 patients (14...
May 17, 2017: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/28511407/gerbode-ventricular-septal-defect-a-rare-cardiac-anomaly-associated-with-genetic-variants-in-indian-population-a-case-series
#3
Yashvanthi Borkar, Krishnananda Nayak, Ranjan K Shetty, Gopalakrishna Bhat, Rajasekhar Moka
Gerbode defects are rare Ventricular Septal Defects (VSD) constituting approximately one percent cases of congenital heart diseases. The genetic predispositions towards the Gerbode Defect (GD) have remained an unexplored area of study till date. We investigated the genotype-phenotype correlation in patients with Gerbode VSD. Molecular genetic study on Sanger sequencing and subsequent data analysis showed that the contributing sequence variations in the NKX2-5, GATA4 and TBX5 gene lies in one of the highly conserved regions and this region is responsible for encoding a functional protein...
March 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28505706/the-three-vessels-and-trachea-view-3vtv-in-the-first-trimester-of-pregnancy-an-additional-tool-in-screening-for-congenital-heart-defects-chd-in-an-unselected-population
#4
Valentina De Robertis, Georgios Rembouskos, Tiziana Fanelli, Grazia Volpe, Brunella Muto, Paolo Volpe
OBJECTIVE: The aim of the study was to evaluate the feasibility of obtaining the 3VTV in an unselected population undergoing first trimester screening for aneuploidy, and to investigate its role in the early detection of CHD. METHODS: Cardiac examination was performed by expert sonographers. Abnormal findings of 3VTV were classified in 3 different subgroups: number, size and spatial relationship of the vessels. RESULTS: We enrolled 6350 consecutive singleton pregnancies and included 5343 cases...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28504326/preoperative-colonization-in-pediatric-cardiac-surgery-and-its-impact-on-postoperative-infections
#5
Simona Silvetti, Marco Ranucci, Giuseppe Isgrò, Valentina Villa, Elena Costa
BACKGROUND: Patients with congenital heart defects are frequently hospitalized before surgery. This exposes them to a high risk for pathogen colonization. There are limited data on colonization prevalence in the pediatric cardiac population, and limited data concerning its potential role in the risk of developing infections after cardiac surgery. AIM: This study aimed to verify the impact of preoperative colonization on postoperative infections in a population of pediatric cardiac surgery patients coming from Italy and developing countries...
May 15, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28497583/evaluation-of-athletes-with-complex-congenital-heart-disease
#6
Benjamin A Bates, Camille Richards, Michael Hall, Edmund K Kerut, William Campbell, Michael R McMullan
As a result of improvements in congenital heart surgery, there are more adults alive today with congenital heart disease (CHD) than children. Individuals with cardiac birth defects may be able to participate in physical activities but require proper cardiovascular evaluation. The American Heart Association and American College of Cardiology released guidelines in 2015 for athletes with cardiovascular abnormalities. The guidelines express that although restriction from competitive athletics may be indicated for some, the majority of individuals with CHD can and should engage in some form of physical activity...
May 12, 2017: Echocardiography
https://www.readbyqxmd.com/read/28495809/comparison-of-enteral-versus-intravenous-potassium-supplementation-in-hypokalaemia-in-paediatric-patients-in-intensive-care-post-cardiac-surgery-open-label-randomised-equivalence-trial-eips
#7
Naveed Ur Rehman Siddiqu, Quratulain Merchant, Babar S Hasan, Arjumand Rizvi, Muneer Amanullah, Amina Rehmat, Anwarul Ul Haq
OBJECTIVES: The primary objective was to compare the efficacy of enteral potassium replacement (EPR) and intravenous potassium replacement (IVPR) as first-line therapy. Secondary objectives included comparison of adverse effects and number of doses required to resolve the episode of hypokalaemia. TRIAL DESIGN: The EIPS trial is designed as a randomised, equivalence trial between two treatment arms. STUDY SETTING: The study was conducted at the paediatric cardiac intensive care unit (PCICU) at Aga Khan University Hospital, Karachi...
May 10, 2017: BMJ Open
https://www.readbyqxmd.com/read/28493409/unruptured-sinus-of-valsalva-aneurysm-mimicking-as-right-atrial-tumor
#8
Roopali Khanna, Pujan Shah, Mousam Dey, Pravin K Goel, Puneet Goyal, Shantanu Pandey
Sinus of Valsalva aneurysm is a rare congenital cardiac abnormality and is usually diagnosed when it ruptures. An asymptomatic 55-year-old male of unruptured sinus of Valsalva aneurysm of noncoronary cusp was on medical follow-up. At 2-year follow-up, there was thrombus formation in the aneurysm, mimicking right atrium tumor on 2D transthoracic echocardiography. Cardiac computed tomography showed filling defect in the aneurysm suggestive of thrombus. Considering the high risk of systemic emboli surgery was performed, and aneurysm was repaired with Dacron patch...
May 11, 2017: Echocardiography
https://www.readbyqxmd.com/read/28492792/cervical-cannulation-for-surgical-repair-of-congenital-cardiac-defects-in-infants-and-small-children
#9
Pankaj Garg, Arvind Kumar Bishnoi, Ketav Lakhia, Parth Solanki, Jigar Surti, Komal Shah, Sanjay Patel
INTRODUCTION: The biggest challenge faced in minimally invasive pediatric cardiac surgery is cannulation for cardiopulmonary bypass. Our technique and experience of cervical cannulation in infants and small children for repair of congenital cardiac defects is reported in this study. METHODS: From January 2013 to June 2015, 37 children (22 males) with mean age of 17.97±8.63 months and weight of 8.06±1.59 kg were operated on for congenital cardiac defects through right lateral thoracotomy...
March 2017: Brazilian Journal of Cardiovascular Surgery
https://www.readbyqxmd.com/read/28484359/evaluation-of-congenital-heart-defects-treatment-options-establishment-of-pediatric-cardiology-cardiosurgery-in-bosnia-and-herzegovina
#10
REVIEW
Zijo Begic, Sanko Pandur, Edo Omerbasic, Almira Kadic, Mirza Halimic
INTRODUCTION: Modern pediatric cardiology mainly deals with congenital heart defects (CHD), as the most common congenital anomalies. In most cases CHD requires surgical or interventional treatment. GOAL: The goal of the research was to evaluate CHD treatment at Pediatric Clinic, University Clinical Center (UCC) Sarajevo, Bosnia and Herzegovina (B&H). UCC Sarajevo is the only institution in B&H where cardiac treatment of CHD in pediatric population is performed. Pediatric cardiosurgery has started to develop in Bosnia and Herzegovina in April 1997...
March 2017: Materia Socio-medica
https://www.readbyqxmd.com/read/28483478/left-aberrant-subclavian-artery-systematic-study-in-adult-patients
#11
Paweł Tyczyński, Ilona Michałowska, Rafał Wolny, Piotr Dobrowolski, Hubert Łazarczyk, Justyna Rybicka, Piotr Hoffman, Adam Witkowski
BACKGROUND: Left aberrant subclavian artery (LASA), is a type of right aortic arch (RAA) branching, which takes-off distally to the right subclavian artery and usually crosses behind the esophagus to the left upper limb. Taking into account the rarity of RAA, LASA is much more rarely seen than the right aberrant subclavian artery (RASA) originating from the left aortic arch. However, RAA may be associated with much more frequent presence of LASA, than left aortic arch with RASA. Anatomical LASA characteristics were not described up to date...
April 25, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28482343/fetal-tricuspid-regurgitation-in-the-first-trimester-as-a-screening-marker-for-congenital-heart-defects-systematic-review-and-meta-analysis
#12
Carolina Scala, Maddalena Morlando, Alessandra Familiari, Umberto Leone Roberti Maggiore, Simone Ferrero, Francesco D'Antonio, Asma Khalil
BACKGROUND: Assessment of tricuspid flow has been reported to improve the performance of screening for aneuploidies and congenital heart defects (CHD). However, the performance of tricuspid regurgitation (TR) as a screening marker for CHD in euploid fetuses is yet to be established. The main aim of this meta-analysis was to establish the predictive accuracy of TR for CHD. METHODS: MEDLINE, Embase, and the Cochrane Library were searched electronically utilizing combinations of the relevant medical subject heading for "fetus," "tricuspid regurgitation," and "first trimester...
May 9, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28471988/associations-of-gata4-genetic-mutations-with-the-risk-of-congenital-heart-disease-a-meta-analysis
#13
Yanwei Zhang, Feng Ai, Jiayong Zheng, Bangtian Peng
BACKGROUND: GATA4 gene is a cardiac transcriptional factor playing important role in cardiac formation and development. Three GATA4 gene mutations, 99 G>T, 487 C>T, and 354 A>C, have been reported in congenital heart disease (CHD). Therefore, a meta-analysis was performed to explore the associations between 99 G>T, 487 C>T, or 354 A>C mutations and the risk of CHD. METHODS: We searched the relevant studies in electronic databases, including ISI Science Citation Index, Embase, PubMed, CNKI, and Wan fang, from January 2006 to March 2016...
May 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28469102/prevalence-of-congenital-heart-disease-among-infants-from-2012-to-2014-in-langfang-china
#14
Peng-Fei Sun, Gui-Chun Ding, Min-Yu Zhang, Sheng-Nan He, Yu Gao, Jian-Hua Wang
BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformations with high mortality and morbidity. The prevalence of CHD reported previously ranged from 4 per 1000 live births to 50 per 1000 live births. In this cross-sectional study, we aimed to document the prevalence of CHD in Langfang district of Hebei Province, China by analyzing data collected by hospitals located in 11 the counties of the district, as supported by a public health campaign. METHODS: A total of 67,718 consecutive 3-month-old infants were included from July 19, 2012 to July 18, 2014...
May 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28468790/genome-wide-association-studies-and-meta-analyses-for-congenital-heart-defects
#15
A J Agopian, Elizabeth Goldmuntz, Hakon Hakonarson, Anshuman Sewda, Deanne Taylor, Laura E Mitchell
BACKGROUND: Maternal and inherited (ie, case) genetic factors likely contribute to the pathogenesis of congenital heart defects, but it is unclear whether individual common variants confer a large risk. METHODS AND RESULTS: To evaluate the relationship between individual common maternal/inherited genotypes and risk for heart defects, we conducted genome-wide association studies in 5 cohorts. Three cohorts were recruited at the Children's Hospital of Philadelphia: 670 conotruncal heart defect (CTD) case-parent trios, 317 left ventricular obstructive tract defect (LVOTD) case-parent trios, and 406 CTD cases (n=406) and 2976 pediatric controls...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28466610/neonatal-cardiac-surgery-in-the-new-era-lessons-learned-from-1000-consecutive-cases
#16
Gabriel Amir, Georgy Frenkel, Elchanan Bruckheimer, Alexander Lowenthal, Amichay Rotstein, Jacob Katz, Yelena Zeitlin, Ofer Schiller, Einat Birk
BACKGROUND: neonatal cardiac surgery has evolved over the last 50 years with a large percentage of the patients achieving complete physiological repair in the neonatal period. The remaining patients achieve staged palliation with an increasing amount of success. OBJECTIVES: To report our experience with 1000 neonatal cardiac surgical procedures performed in the last 10 years. METHODS: We conducted a retrospective analysis of surgical outcome in all neonatal patients who underwent cardiac surgery between January 2007 and July 2016 at Schneider Children's Medical Center of Israel...
November 2016: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/28465979/isolated-double-chambered-right-ventricle-with-intact-interventricular-septum
#17
Subramanian Chellappan, Balaswaroop Sahu, Yogesh C Sathe
Double-chambered right ventricle (DCRV) is a developmental cardiac anomaly in which anomalous muscle bundles divide the right ventricular (RV) cavity into two chambers. It is usually associated with other congenital cardiac defects, of which ventricular septal defect is the most common association. Isolated DCRV with an intact interventricular septum is very rarely reported. It manifests itself usually in adolescence and adults as the obstruction progresses gradually. It is important to recognize this anomaly as it can progress to severe RV failure if unaddressed...
October 2016: Journal of Cardiovascular Echography
https://www.readbyqxmd.com/read/28464518/6q25-1-tab2-microdeletion-syndrome-congenital-heart-defects-and-cardiomyopathy
#18
Andrew Cheng, Mary Beth P Dinulos, Whitney Neufeld-Kaiser, Jill Rosenfeld, McKenna Kyriss, Suneeta Madan-Khetarpal, Hiba Risheg, Peter H Byers, Yajuan J Liu
Congenital heart defects (CHD) are the most frequent type of congenital anomaly and are often associated with genetic and chromosomal syndromes. Haploinsufficiency of TAB2 (TGF-beta activated kinase 1/MAP3K7 binding protein 2) has been proposed to cause valvular and cardiac outflow tract structural abnormalities. In this study, we describe 13 newly identified individuals with microdeletions of chromosome 6q25.1 that involve TAB2. One of the patients in our study cohort has the smallest deletion yet reported, affecting only TAB2...
May 2, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28464487/a-novel-xp22-13-microdeletion-in-nance-horan-syndrome
#19
Andrea Accogli, Monica Traverso, Francesca Madia, Tommaso Bellini, Maria Stella Vari, Francesca Pinto, Valeria Capra
BACKGROUND: Nance-Horan syndrome (NHS) is a rare X-linked developmental disorder characterized by congenital cataract, dental anomalies and facial dysmorphisms. Notably, up to 30% of NHS patients have intellectual disability and a few patients have been reported to have congenital cardiac defects. Nance-Horan syndrome is caused by mutations in the NHS gene that is highly expressed in the midbrain, retina, lens, tooth, and is conserved across vertebrate species. Although most pathogenic mutations are nonsense mutations, a few genomic rearrangements involving NHS locus have been reported, suggesting a possible pathogenic role of the flanking genes...
May 2, 2017: Birth Defects Res
https://www.readbyqxmd.com/read/28462756/changes-in-the-diagnosis-of-congenital-cardiovascular-malformations-during-the-1st-year-of-life-impacts-on-epidemiological-risk-factor-associations
#20
Kevin C Firl, Jacquie S King, Kepher H Makambi, Christopher A Loffredo
Many epidemiological studies base their classification of congenital cardiovascular malformations in newborns upon a single, initial diagnosis. This study aimed to evaluate the effect of subsequent diagnostic investigations on the results of epidemiological studies. We used diagnostic codes from the Baltimore-Washington Infant Study from the time of birth and at ~1 year of age. Odds ratios and 95% confidence intervals were used to identify associations between changes in diagnoses and infant characteristics, time period, that is, before and after introduction of color flow Doppler imaging, and diagnostic variables...
May 2017: Cardiology in the Young
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