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Congenital heart defects

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https://www.readbyqxmd.com/read/29781990/fetal-mouse-cardiovascular-imaging-using-a-high-frequency-ultrasound-30-45mhz-system
#1
Marlin Touma
Congenital heart defects (CHDs) are the most common cause of childhood morbidity and early mortality. Prenatal detection of the underlying molecular mechanisms of CHDs is crucial for inventing new preventive and therapeutic strategies. Mutant mouse models are powerful tools to discover new mechanisms and environmental stress modifiers that drive cardiac development and their potential alteration in CHDs. However, efforts to establish the causality of these putative contributors have been limited to histological and molecular studies in non-survival animal experiments, in which monitoring the key physiological and hemodynamic parameters is often absent...
May 5, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29779522/sinus-tachycardia-presenting-as-a-wide-and-narrow-complex-tachyarrhythmia-what-is-the-link
#2
Chenni S Sriram, Mario D Gonzalez
We describe a neonate that developed alternating wide and narrow complex tachycardias following heart surgery for congenital heart defect. Although the etiology was sinus tachycardia, a premature atrial complex initiated aberrancy due to phase 3 block that was perpetuated due to 'linking' at similar or even slower heart rates. Similarly, there was abrupt transition from wide to narrow complex tachycardia following a premature ventricular complex without a change in subsequent heart rate. This was explained by interruption of linking phenomenon by premature ventricular activation...
May 2018: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29776964/arrhythmias-in-adult-patients-with-congenital-heart-disease-and-pulmonary-arterial-hypertension
#3
Maria Drakopoulou, Heba Nashat, Aleksander Kempny, Rafael Alonso-Gonzalez, Lorna Swan, Stephen J Wort, Laura C Price, Colm McCabe, Tom Wong, Michael A Gatzoulis, Sabine Ernst, Konstantinos Dimopoulos
OBJECTIVES: Approximately 5%-10% of adults with congenital heart disease (CHD) develop pulmonary arterial hypertension (PAH), which affects life expectancy and quality of life. Arrhythmias are common among these patients, but their incidence and impact on outcome remains uncertain. METHODS: All adult patients with PAH associated with CHD (PAH-CHD) seen in a tertiary centre between 2007 and 2015 were followed for new-onset atrial or ventricular arrhythmia. Clinical variables associated with arrhythmia and their relation to mortality were assessed using Cox analysis...
May 18, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29776810/congenital-heart-disease-in-adults-assessmentof-functional-capacity-using-cardiopulmonary-exercise-testing
#4
Sílvia Aguiar Rosa, Ana Agapito, Rui M Soares, Lídia Sousa, José Alberto Oliveira, Ana Abreu, Ana Sofia Silva, Sandra Alves, Helena Aidos, Fátima F Pinto, Rui Cruz Ferreira
AIM: The aim of the study was to compare functional capacity in different types of congenital heart disease (CHD), as assessed by cardiopulmonary exercise testing (CPET). METHODS: A retrospective analysis was performed of adult patients with CHD who had undergone CPET in a single tertiary center. Diagnoses were divided into repaired tetralogy of Fallot, transposition of the great arteries (TGA) after Senning or Mustard procedures or congenitally corrected TGA, complex defects, shunts, left heart valve disease and right ventricular outflow tract obstruction...
May 15, 2018: Portuguese Journal of Cardiology: An Official Journal of the Portuguese Society of Cardiology
https://www.readbyqxmd.com/read/29776787/the-value-of-peripheral-perfusion-index-measurements-for-early-detection-of-critical-cardiac-defects
#5
Ozgun Uygur, Ozge Altun Koroglu, Erturk Levent, Merve Tosyali, Mete Akisu, Mehmet Yalaz, Nilgun Kultursay
BACKGROUND: Approximately 25% of congenital heart diseases (CHD) are estimated to be critical and require an intervention. In this study, we aimed to investigate the additional value of peripheral perfusion index (PPI) measurements to pulse oximetry screening for critical CHD (CCHD). METHODS: Infants born at Ege University Hospital between May 2013 and September 2015 were prospectively included in the study. In addition to physical examination, pre- and postductal oxygen saturations and PPI values were measured with a new generation pulse oximeter before discharge from the hospital...
April 12, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29774208/long-term-outcome-of-transcatheter-device-closure-of-perimembranous-ventricular-septal-defects
#6
Krishna D Mandal, Danyan Su, Yusheng Pang
Background: Ventricular septal defect is a common congenital heart defect. Transcatheter closure of perimembranous ventricular septal defect (pmVSD) is an effective method alternative to surgical closure. The aim of the study is to evaluate the procedural result, early and long-term follow-up outcome of transcatheter closure of pmVSD. Methods: From January 2005 to December 2016, we retrospectively identified the patients who underwent transcatheter device closure of pmVSD. All patients underwent transthoracic echocardiography (TTE) and electrocardiogram (ECG) before and after the procedure...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#7
REVIEW
Katherine Courchaine, Graham Rykiel, Sandra Rugonyi
The role of hemodynamics in cardiovascular development is not well understood. Indeed, it would be remarkable if it were, given the dauntingly complex array of intricately synchronized genetic, molecular, mechanical, and environmental factors at play. However, with congenital heart defects affecting around 1 in 100 human births, and numerous studies pointing to hemodynamics as a factor in cardiovascular morphogenesis, this is not an area in which we can afford to remain in the dark. This review seeks to present the case for the importance of research into the biomechanics of the developing cardiovascular system...
May 14, 2018: Progress in Biophysics and Molecular Biology
https://www.readbyqxmd.com/read/29770295/recent-innovations-in-perfusion-and-cardiopulmonary-bypass-for-neonatal-and-infant-cardiac-surgery
#8
REVIEW
David Sturmer, Claude Beaty, Sean Clingan, Eric Jenkins, Whitney Peters, Ming-Sing Si
The development and refinement of cardiopulmonary bypass (CPB) has made the repair of complex congenital heart defects possible in neonates and infants. In the past, the primary goal for these procedures was patient survival. Now that substantial survival rates have been achieved for even the most complex of repairs in these patients, focus has been given to the reduction of morbidity. Although a necessity for these complex neonatal and infant heart defect repairs, CPB can also be an important source of perioperative complications...
April 2018: Translational Pediatrics
https://www.readbyqxmd.com/read/29764576/-nipbl-gene-mutations-in-two-children-with-cornelia-de-lange-syndrome
#9
Yun-Jing Zhao, Hong-Wei Ma
Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Patient 2 had cleft palate and moderate-to-severe deafness. Clinical features suggested Cornelia de Lange syndrome in both children...
May 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29762935/septic-shock-meningoencephalitis-and-multiple-pulmonary-emboli-case-report-of-an-uncommon-clinical-presentation-of-ventricular-septal-defect-acute-infective-endocarditis
#10
Laura Varela Barca, Jose López-Menéndez, Ana Redondo Palacios, Jorge Rodríguez-Roda Stuart
The case is reported of a 55 year-old woman, with a previously known congenital septal defect, who was admitted to the emergency department with a diagnosis of meningoencephalitis, septic shock, and rapid clinical deterioration. Echocardiography revealed a vegetation occupying the right-side heart. Endocarditis affectation of the septal defect, aortic and tricuspid valves was noted and blood cultures were positive for Staphylococcus aureus. Urgent surgical treatment was performed whereby the ventricular septal defect was closed, a meticulous debridement of the affected area was conducted, and the aortic and tricuspid valves were replaced...
September 2017: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/29762087/genomics-and-epigenomics-of-congenital-heart-defects-expert-review-and-lessons-learned-in-africa
#11
Nicholas Ekow Thomford, Kevin Dzobo, Nana Akyaa Yao, Emile Chimusa, Jonathan Evans, Emmanuel Okai, Paul Kruszka, Maximilian Muenke, Gordon Awandare, Ambroise Wonkam, Collet Dandara
Congenital heart defects (CHD) are structural malformations found at birth with a prevalence of 1%. The clinical trajectory of CHD is highly variable and thus in need of robust diagnostics and therapeutics. Major surgical interventions are often required for most CHDs. In Africa, despite advances in life sciences infrastructure and improving education of medical scholars, the limited clinical data suggest that CHD detection and correction are still not at par with the rest of the world. But the toll and genetics of CHDs in Africa has seldom been systematically investigated...
May 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#12
Annie Ting Gee Chiu, Sophelia Hoi Shan Chan, Shun Ping Wu, Shun Hin Ting, Brian Hon Yin Chung, Angel On Kei Chan, Virginia Chun Nei Wong
The authors report a child with spinal muscular atrophy with respiratory distress type 1 (SMARD1). She presented atypically with hypothyroidism and heart failure due to septal defects that required early heart surgery and microcephaly in association with cerebral atrophy and thin corpus collosum. The subsequent asymmetrical onset of diaphragmatic paralysis, persistent hypotonia, and generalized muscle weakness led to the suspicion of spinal muscular atrophy with respiratory distress type 1. Sanger sequencing confirmed a compound heterozygous mutation in the Immunoglobulin Mu Binding Protein 2 (IGHMBP2) gene, with a known mutation c...
2018: Child Neurology Open
https://www.readbyqxmd.com/read/29760779/a-boy-with-developmental-delay-and-mosaic-supernumerary-inv-dup-5-p15-33p15-1-leading-to-distal-5p-tetrasomy-case-report-and-review-of-the-literature
#13
Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova
Background: With only 11 patients reported, 5p tetrasomy belongs to rare postnatal findings. Most cases are due to small supernumerary marker chromosomes (sSMCs) or isochromosomes. The patients share common but unspecific symptoms such as developmental delay, seizures, ventriculomegaly, hypotonia, and fifth finger clinodactyly. Simple interstitial duplications leading to trisomies of parts of 5p are much more frequent and better described. Duplications encompassing 5p13.2 cause a defined syndrome with macrocephaly, distinct facial phenotype, heart defects, talipes equinovarus, feeding difficulties, respiratory distress and anomalies of the central nervous system, developmental delay and hypotonia...
2018: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29757759/mechanical-circulatory-support-of-the-right-ventricle-for-adult-and-pediatric-patients-with-heart-failure
#14
Steven G Chopski, Nohra M Murad, Carson S Fox, Randy M Stevens, Amy L Throckmorton
The clinical implementation of mechanical circulatory assistance for a significantly dysfunctional or failing left ventricle as a bridge-to-transplant or bridge-to-recovery is on the rise. Thousands of patients with left-sided heart failure are readily benefitting from these life-saving technologies, and left ventricular failure often leads to severe right ventricular dysfunction or failure. Right ventricular failure (RVF) has a high rate of mortality caused by the risk of multisystem organ failure and prolonged hospitalization for patients after treatment...
May 10, 2018: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://www.readbyqxmd.com/read/29753092/sex-differences-for-major-congenital-heart-defects-in-down-syndrome-a-population-based-study
#15
Michele Santoro, Alessio Coi, Isabella Spadoni, Fabrizio Bianchi, Anna Pierini
BACKGROUND: Down syndrome (DS) is the most common autosomal chromosomal anomaly in liveborn infants. About 40% of infants with DS have a major congenital heart defect (CHD). Among them, atrioventricular septal defects (AVSD), atrial septal defects (ASD), ventricular septal defect (VSD) and Tetralogy of Fallot (ToF) are the most common. The aim of this study was to estimate the sex difference in the occurrence of CHD in infants with DS comparing it with non-DS infants. METHOD: Live birth cases of DS diagnosed by the first year of life were extracted from the Registry of Congenital Anomalies of Tuscany (2003-2015 period)...
May 9, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29751595/optical-electrophysiology-in-the-developing-heart
#16
REVIEW
Kandace Thomas, Julie Goudy, Trevor Henley, Michael Bressan
The heart is the first organ system to form in the embryo. Over the course of development, cardiomyocytes with differing morphogenetic, molecular, and physiological characteristics are specified and differentiate and integrate with one another to assemble a coordinated electromechanical pumping system that can function independently of any external stimulus. As congenital malformation of the heart presents the leading class of birth defects seen in humans, the molecular genetics of heart development have garnered much attention over the last half century...
May 11, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29746156/tessier-number-30-median-mandibular-cleft-with-congenital-heart-anomalies-in-qena-egypt
#17
Ahmed Ali Abdelrahim Ali
Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.
January 1, 2018: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/29744658/catheter-mri-and-ct-imaging-in-newborns-with-pulmonary-atresia-with-ventricular-septal-defect-and-aortopulmonary-collaterals-quantifying-the-risks-of-radiation-dose-and-anaesthetic-time
#18
David F A Lloyd, Sebastian Goreczny, Conal Austin, Tarique Hussain, Shakeel A Qureshi, Eric Rosenthal, Thomas Krasemann
A comprehensive understanding of the native pulmonary blood supply is crucial in newborns with pulmonary atresia with ventricular septal defect and aortopulmonary collaterals (PA/VSD/MAPCA). We sought to describe the accuracy in terms of identifying native pulmonary arteries, radiation dose and anaesthetic time associated with multi-modality imaging in these patients, prior to their first therapeutic intervention. Furthermore, we wanted to evaluate the cumulative radiations dose and anaesthetic time over the study period...
May 9, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29743909/improvement-of-physical-capacity-in-patients-undergoing-transcatheter-closure-of-atrial-septal-defects
#19
Paweł Prochownik, Tadeusz Przewłocki, Piotr Podolec, Piotr Wilkołek, Bartosz Sobień, Urszula Gancarczyk, Natalia Podolec, Monika Komar
Introduction: Atrial septal defect (ASD) is the most common congenital cardiac anomaly diagnosed in adults. It often remains asymptomatic until the fourth or fifth decade of life. Significant left-to-right interatrial shunting is associated with the risk of heart failure, pulmonary hypertension and atrial fibrillation. Percutaneous ASD closure is a recognized method of treatment. Aim: To evaluate the clinical outcomes and physical capacity in patients undergoing transcatheter closure of ostium secundum ASD...
2018: Postępy W Kardiologii Interwencyjnej, Advances in Interventional Cardiology
https://www.readbyqxmd.com/read/29743679/control-of-cardiac-jelly-dynamics-by-notch1-and-nrg1-defines-the-building-plan-for-trabeculation
#20
Gonzalo Del Monte-Nieto, Mirana Ramialison, Arne A S Adam, Bingruo Wu, Alla Aharonov, Gabriele D'Uva, Lauren M Bourke, Mara E Pitulescu, Hanying Chen, José Luis de la Pompa, Weinian Shou, Ralf H Adams, Sarah K Harten, Eldad Tzahor, Bin Zhou, Richard P Harvey
In vertebrate hearts, the ventricular trabecular myocardium develops as a sponge-like network of cardiomyocytes that is critical for contraction and conduction, ventricular septation, papillary muscle formation and wall thickening through the process of compaction 1 . Defective trabeculation leads to embryonic lethality2-4 or non-compaction cardiomyopathy (NCC) 5 . There are divergent views on when and how trabeculation is initiated in different species. In zebrafish, trabecular cardiomyocytes extrude from compact myocardium 6 , whereas in chicks, chamber wall thickening occurs before overt trabeculation 7 ...
May 9, 2018: Nature
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