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https://www.readbyqxmd.com/read/29786701/lutembacher-syndrome-with-mitral-valve-calcification-in-a-31-year-old-male
#1
Arsalan Majeed Adam, Ansab Godil, Muhammad Saad Ali Mallick, Fahad Khan, Ather Hasan Rizvi, Inam-Ul-Haq Muhammad Makhdoom
Lutembacher syndrome is characterized by a congenital ostium secundum atrial septal defect and an acquired mitral valve stenosis. We present a similar case in a 31-year old male who came in with orthopnoea, central cyanosis and pedal oedema. Examination revealed cardiac murmurs in tricuspid and apical regions. Chest x-ray showed signs of pulmonary congestion and ventricular enlargement. Electrocardiogaphy (ECG) revealed right axis deviation and right bundle branch block along with atrial fibrillation and Transthoracic Echocardiography (TTE) showed abnormal valves (mitral stenosis with calcification and tricuspid regurgitation) and dilated cardiac chambers...
February 2018: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/29784874/select-%C3%AE-arrestins-control-cell-surface-abundance-of-the-mammalian-kir2-1-potassium-channel-in-a-yeast-model
#2
Natalie A Hager, Collin J Krasowski, Timothy D Mackie, Alexander R Kolb, Patrick G Needham, Andrew A Augustine, Alison Dempsey, Christopher Szent-Gyorgyi, Marcel P Bruchez, Daniel J Bain, Adam V Kwiatkowski, Allyson F O'Donnell, Jeffrey L Brodsky
Protein composition at the plasma membrane is tightly regulated, with rapid protein internalization and selective targeting to the cell surface occurring in response to environmental changes. For example, ion channels are dynamically relocalized to or from the plasma membrane in response to physiological alterations, allowing cells and organisms to maintain osmotic and salt homeostasis. To identify additional factors that regulate the selective trafficking of a specific ion channel, we used a yeast model for a mammalian potassium channel, the K+ inwardly rectifying channel Kir2...
May 21, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29784681/use-of-intracardiac-echocardiography-in-interventional-cardiology-working-with-the-anatomy-rather-than-fighting-it
#3
REVIEW
Andres Enriquez, Luis C Saenz, Raphael Rosso, Frank E Silvestry, David Callans, Francis E Marchlinski, Fermin Garcia
The indications for catheter-based structural and electrophysiological procedures have recently expanded to more complex scenarios, in which an accurate definition of the variable individual cardiac anatomy is key to obtain optimal results. Intracardiac echocardiography (ICE) is a unique imaging modality able to provide high-resolution real-time visualization of cardiac structures, continuous monitoring of catheter location within the heart, and early recognition of procedural complications, such as pericardial effusion or thrombus formation...
May 22, 2018: Circulation
https://www.readbyqxmd.com/read/29783821/-clinical-and-genetic-analysis-of-eleven-pediatric-patients-with-alagille-syndrome
#4
L Guo, S T Zhao, Y Cheng, M Deng, H Li, Y Z Song, X R Cai, Q Zhou
Objective: To explore the clinical and molecular genetic features of patients with Alagille syndrome (AS). Methods: The clinical data of eleven pediatric patients, who were suspected to have AS at the Department of Pediatrics in the First Affiliated Hospital of Jinan University from August 2010 to March 2017, were collected and analyzed. Genomic DNA was extracted from peripheral blood leukocytes of the patients and their parents. For 5 patients collected before March 2006, all JAG1 exons and their flanking sequences were directly sequenced...
May 2, 2018: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29782331/management-challenges-in-an-infant-with-pentalogy-of-cantrell-giant-anterior-encephalocele-and-craniofacial-anomalies-a-case-report
#5
Richard Hubbard, Seth Hayes, Holly Gillis, Spencer Lindsey, Prashant Malhotra, Tariq Wani, Joseph D Tobias, Ralph Beltran
Pentalogy of Cantrell is a rare syndrome consisting of midline abnormalities involving the heart, sternum, abdominal wall, and the anterior and pericardial diaphragm. This combination of defects places patients at particular perioperative risk and requires individualized management during anesthetic care. The following report documents the management of a patient with pentalogy of Cantrell, whose condition was further complicated by severe midline craniofacial abnormalities, including large anterior encephalocele, deficient mandible, tethered tongue, and cleft palate...
May 17, 2018: A&A practice
https://www.readbyqxmd.com/read/29781990/fetal-mouse-cardiovascular-imaging-using-a-high-frequency-ultrasound-30-45mhz-system
#6
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/29780907/calcified-amorphous-tumor-a-rare-cause-of-central-retinal-artery-occlusion
#7
Jeffrey H Ma, Manjot K Gill
Purpose: We report the case of a central retinal artery occlusion secondary to presumed embolus from a calcified amorphous tumor of the heart, a very rare non-neoplastic cardiac mass. Observations: A 60-year-old female presented with acute unilateral vision loss of the left eye. Examination revealed hand motion visual acuity of the left eye and a left relative afferent pupillary defect. Fundoscopy showed whitening of the macula with a cherry red spot, consistent with a central retinal artery occlusion...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29779522/sinus-tachycardia-presenting-as-a-wide-and-narrow-complex-tachyarrhythmia-what-is-the-link
#8
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
#9
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
#10
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
#11
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
#12
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/29772440/inhibition-of-nogo-b-promotes-cardiac-hypertrophy-via-endoplasmic-reticulum-stress
#13
Junli Li, Wenchao Wu, Yanguo Xin, Mingyue Zhao, Xiaojing Liu
AIMS: Nogo-B is a key endoplasmic reticulum (ER) protein that regulates ER stress signaling. However, its role in cardiac hypertrophy remains poorly understood. ER stress is interrelated with autophagy in the process of cardiac hypertrophy. Therefore, we aimed to test the hypothesis that both ER stress and autophagy signaling mediate the function of Nogo-B in cardiac hypertrophy. MAIN METHODS: Rat models of transverse aortic constriction (TAC), neonatal rat cardiomyocytes (NRCMs) stimulated with norepinephrine (Ne) and primary cardiac fibroblasts treated with transforming growth factor β1 (TGF-β1) were used in this study...
May 14, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/29772208/influence-of-blood-flow-on-cardiac-development
#14
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/29770800/current-and-future-circulating-biomarkers-for-cardiac-amyloidosis
#15
REVIEW
Marco Luciani, Luca Troncone, Federica Del Monte
Cardiac amyloidosis (CA) comprises a heterogeneous group of medical conditions affecting the myocardium. It presents with proteinaceous infiltration with variable degrees of severity, prevalence and evolution. Despite this heterogeneity, erroneous protein folding is the common pathophysiologic process, yielding the formation of a single misfolded protein (monomer) that progressively evolves and ultimately forms amyloid fibers. Additionally, by seeding out from the organs of origin, intermediates called oligomers metastasize and restart the process...
May 17, 2018: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29770295/recent-innovations-in-perfusion-and-cardiopulmonary-bypass-for-neonatal-and-infant-cardiac-surgery
#16
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/29768408/a-homozygous-kat2b-variant-modulates-the-clinical-phenotype-of-add3-deficiency-in-humans-and-flies
#17
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons
Recent evidence suggests that the presence of more than one pathogenic mutation in a single patient is more common than previously anticipated. One of the challenges hereby is to dissect the contribution of each gene mutation, for which animal models such as Drosophila can provide a valuable aid. Here, we identified three families with mutations in ADD3, encoding for adducin-γ, with intellectual disability, microcephaly, cataracts and skeletal defects. In one of the families with additional cardiomyopathy and steroid-resistant nephrotic syndrome (SRNS), we found a homozygous variant in KAT2B, encoding the lysine acetyltransferase 2B, with impact on KAT2B protein levels in patient fibroblasts, suggesting that this second mutation might contribute to the increased disease spectrum...
May 16, 2018: PLoS Genetics
https://www.readbyqxmd.com/read/29766225/potential-common-pathogenic-pathways-for-the-left-ventricular-noncompaction-cardiomyopathy-lvnc
#18
Ying Liu, Hanying Chen, Weinian Shou
Ventricular trabeculation and compaction are two essential morphogenetic events for generating a functionally competent ventricular wall. A significant reduction in trabeculation is usually associated with hypoplastic wall and ventricular compact zone deficiencies, which commonly leads to embryonic heart failure and early embryonic lethality. In contrast, the arrest of ventricular wall compaction (noncompaction) is believed to be causative to the left ventricular noncompaction (LVNC), a genetically heterogeneous disorder and the third most common cardiomyopathy among pediatric patients...
May 15, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29764968/how-to-prevent-and-manage-radiation-induced-coronary-artery-disease
#19
REVIEW
Jason R Cuomo, Sean P Javaheri, Gyanendra K Sharma, Deepak Kapoor, Adam E Berman, Neal L Weintraub
Radiation-induced coronary heart disease (RICHD) is the second most common cause of morbidity and mortality in patients treated with radiotherapy for breast cancer, Hodgkin's lymphoma and other prevalent mediastinal malignancies. The risk of RICHD increases with radiation dose. Exposed patients may present decades after treatment with manifestations ranging from asymptomatic myocardial perfusion defects to ostial, triple-vessel disease and sudden cardiac death. RICHD is insidious, with a long latency and a tendency to remain silent late into the disease course...
May 15, 2018: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/29764576/-nipbl-gene-mutations-in-two-children-with-cornelia-de-lange-syndrome
#20
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
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