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Cardiac congenital 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/29776810/congenital-heart-disease-in-adults-assessmentof-functional-capacity-using-cardiopulmonary-exercise-testing
#2
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
#3
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/29772208/influence-of-blood-flow-on-cardiac-development
#4
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
#5
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/29770291/a-review-of-the-nunn-modified-single-patch-technique-for-atrioventricular-septal-defect-repair
#6
REVIEW
Tracy R Geoffrion, Kanchana Singappuli, John S K Murala
Atrioventricular septal defect (AVSD) is a common congenital cardiac surgical problem. Over the years, younger and smaller infants are having operations for this condition before irreversible cardio pulmonary changes occur. Traditionally a single or two patch techniques have been used to repair this defect. However, in the past two decades an innovative method of modified single patch technique popularized by Dr. Graham Nunn has gained worldwide popularity. This review discusses the origin, surgical principles, technique and outcomes of this method, popularly known as Nunn or Australian technique...
April 2018: Translational Pediatrics
https://www.readbyqxmd.com/read/29761130/spinal-muscular-atrophy-with-respiratory-distress-type-1-a-child-with-atypical-presentation
#7
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/29757759/mechanical-circulatory-support-of-the-right-ventricle-for-adult-and-pediatric-patients-with-heart-failure
#8
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/29753526/prenatally-versus-postnatally-diagnosed-congenital-diaphragmatic-hernia-side-stage-and-outcome
#9
Carmen Mesas Burgos, Björn Frenckner, Matias Luco, Matthew T Harting, Pamela A Lally, Kevin P Lally
AIM: To compare outcomes between prenatally and postnatally diagnosed CDH in a large multicenter database of prospectively collected data and evaluate factors associated with poorer outcome for prenatally diagnosed CDH. MATERIAL AND METHODS: We used information from the multicenter, multinational CDH Study Group database on patients born between 2007 and 2015. We compared differences between prenatally and postnatally diagnosed CDH with respect to survival, side, size, ECMO needs, associated major cardiac malformations and liver position...
April 14, 2018: Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29751595/optical-electrophysiology-in-the-developing-heart
#10
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/29750039/impact-of-an-inline-extracorporeal-membrane-oxygenation-hemofilter-system-in-neonatal-acute-kidney-injury
#11
Mohammed Azar, Abdulrahman Alamir, Abdullah Thabet Al Qahtani, Al Mokali Khamisa, Khalid Alfakeeh
Extracorporeal membrane oxygenation (ECMO) is considered a recognized lifesaving support for patients with cardiorespiratory failure. Acute kidney injury (AKI) and fluid overload are significant morbidity factors resulting in serious complications. The inline hemofilter system (IHS) and the continuous renal replacement therapy (CRRT) machine are different methods of renal replacement therapy for patients with ECMO. IHS is the alternate, safe dialysis modality of choice because it is user-friendly, inexpensive, and efficiently removes fluid overload and renal diffusive clearance...
2018: Therapeutics and Clinical Risk Management
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
#12
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
#13
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
#14
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
https://www.readbyqxmd.com/read/29743157/parents-experiences-of-caring-for-their-child-at-the-time-of-discharge-after-cardiac-surgery-and-during-the-postdischarge-period-qualitative-study-using-an-online-forum
#15
Jo Wray, Katherine Brown, Jenifer Tregay, Sonya Crowe, Rachel Knowles, Kate Bull, Faith Gibson
BACKGROUND: Congenital heart disease (CHD) is the most common class of birth defects, which encompasses a broad spectrum of severity ranging from relatively minor to extremely complex. Improvements in surgery and intensive care have resulted in an increasing number of infants with the most complex lesions surviving after surgery until the time of discharge from the hospital, but there remain concerns about out-of-hospital mortality, variability in how services are provided at the time of discharge and beyond, and difficulties experienced by some families in accessing care...
May 9, 2018: Journal of Medical Internet Research
https://www.readbyqxmd.com/read/29734195/tenascin-x-congenital-adrenal-hyperplasia-and-the-cah-x-syndrome
#16
Walter L Miller, Deborah P Merke
Mutations of the CYP21A2 gene encoding adrenal 21-hydroxylase cause congenital adrenal hyperplasia (CAH). The CYP21A2 gene is partially overlapped by the TNXB gene, which encodes an extracellular matrix protein called Tenascin-X (TNX). Mutations affecting both alleles of TNXB cause a severe, autosomal recessive form of Ehlers-Danlos syndrome (EDS). Rarely, patients with severe, salt-wasting CAH have deletions of CYP21A2 that extend into TNXB, resulting in a "contiguous gene syndrome" consisting of CAH and EDS...
May 7, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29731120/clinical-and-echocardiographic-prevalence-and-detection-of-congenital-and-acquired-cardiac-abnormalities-in-girls-and-women-with-the-turner-syndrome
#17
Anji T Yetman, Lois Starr, Jennifer Sanmann, Megan Wilde, Mary Murray, Jonathan W Cramer
The prevalence of congenital and acquired heart disease in patients with the Turner syndrome (TS) is based on historic cohorts who underwent imaging before the advent of modern day echocardiography. Recent small studies suggest a higher prevalence of cardiac defects. We reviewed clinical and echocardiographic data on 564 girls and women with TS to assess the prevalence of cardiac defects. Echocardiographic review on a subset of this population was performed to assess for diagnostic limitations of echocardiography in assessing for congenital and acquired defects in this patient cohort...
April 17, 2018: American Journal of Cardiology
https://www.readbyqxmd.com/read/29724030/some-isolated-cardiac-malformations-can-be-related-to-laterality-defects
#18
REVIEW
Paolo Versacci, Flaminia Pugnaloni, Maria Cristina Digilio, Carolina Putotto, Marta Unolt, Giulio Calcagni, Anwar Baban, Bruno Marino
Human beings are characterized by a left⁻right asymmetric arrangement of their internal organs, and the heart is the first organ to break symmetry in the developing embryo. Aberrations in normal left⁻right axis determination during embryogenesis lead to a wide spectrum of abnormal internal laterality phenotypes, including situs inversus and heterotaxy . In more than 90% of instances, the latter condition is accompanied by complex and severe cardiovascular malformations. Atrioventricular canal defect and transposition of the great arteries—which are particularly frequent in the setting of heterotaxy —are commonly found in situs solitus with or without genetic syndromes...
May 2, 2018: Journal of Cardiovascular Development and Disease
https://www.readbyqxmd.com/read/29722020/atrioventricular-canal-defect-and-genetic-syndromes-the-unifying-role-of-sonic-hedgehog
#19
REVIEW
M C Digilio, F Pugnaloni, A De Luca, G Calcagni, A Baban, M L Dentici, P Versacci, B Dallapiccola, M Tartaglia, B Marino
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" demonstrated that the distinct morphology and combination of AVCD features in some of these syndromes is reminiscent of the cardiac phenotype found in heterotaxy, a malformation complex previously associated with functional cilia abnormalities and aberrant Hedgehog (Hh) signaling...
May 3, 2018: Clinical Genetics
https://www.readbyqxmd.com/read/29720615/characterizing-the-role-of-atrial-natriuretic-peptide-signaling-in-the-development-of-embryonic-ventricular-conduction-system
#20
Arun Govindapillai, Adam Hotchkiss, Mark Baguma-Nibasheka, Robert A Rose, Lucile Miquerol, Oliver Smithies, Nobuyo Maeda, Kishore B S Pasumarthi
Patients born with congenital heart defects frequently encounter arrhythmias due to defects in the ventricular conduction system (VCS) development. Although recent studies identified transcriptional networks essential for the heart development, there is scant information on the mechanisms regulating VCS development. Based on the association of atrial natriuretic peptide (ANP) expression with VCS forming regions, it was reasoned that ANP could play a critical role in differentiation of cardiac progenitor cells (CPCs) and cardiomyocytes (CMs) toward a VCS cell lineage...
May 2, 2018: Scientific Reports
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