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https://www.readbyqxmd.com/read/28812984/modelling-the-effects-of-quinidine-disopyramide-and-e-4031-on-short-qt-syndrome-variant-3-in-the-human-ventricles
#1
Cunjin Luo, Kuanquan Wang, Henggui Zhang
Short QT syndrome (SQTS) is an inherited cardiac channelopathy, but at present little information is available on its pharmacological treatment. SQT3 variant (linked to the inward rectifier potassium current IK1) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF). Using biophysically-detailed human ventricular computer models, this study investigated the potential effects of quinidine, disopyramide, and E-4031 on SQT3...
August 16, 2017: Physiological Measurement
https://www.readbyqxmd.com/read/28810874/sudden-cardiac-death-focus-on-the-genetics-of-channelopathies-and-cardiomyopathies
#2
REVIEW
Simona Magi, Vincenzo Lariccia, Marta Maiolino, Salvatore Amoroso, Santo Gratteri
Sudden cardiac death (SCD) describes a natural and unexpected death from cardiac causes occurring within a short period of time (generally within 1 h of symptom onset) in the absence of any other potentially lethal condition. Most SCD-related diseases have a genetic basis; in particular congenital cardiac channelopathies and cardiomyopathies have been described as leading causes of SCD. Congenital cardiac channelopathies are primary electric disorders caused by mutations affecting genes encoding cardiac ion channels or associated proteins, whereas cardiomyopathies are related to mutations in genes encoding several categories of proteins, including those of sarcomeres, desmosomes, the cytoskeleton, and the nuclear envelope...
August 15, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28801377/ethnic-differences-in-genetic-ion-channelopathies-associated-with-sudden-cardiac-death-a-systematic-review-and-meta-analysis
#3
Tim Kong, Joseph Feulefack, Kim Ruether, Fan Shen, Wang Zheng, Xing-Zhen Chen, Consolato Sergi
BACKGROUND AND AIMS: Reports of allele frequencies encoding ion channel, or their interacting proteins associated with sudden cardiac death among different ethnic groups have been inconsistent. Here, we aimed to characterize the distribution of these genes and their alleles among various ethnicities through meta-analysis. METHODS: We conducted a systematic review and meta-analysis to assess the mean allele frequencies of channelopathy genes SCN5A, NOS1AP, KCNH2, KCNE1, and KCNQ1 among the Black, Caucasian, Asian, and Hispanic ethnicities...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28767663/contribution-of-exome-sequencing-for-genetic-diagnostic-in-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia
#4
Joel Fedida, Veronique Fressart, Philippe Charron, Elodie Surget, Tiphaine Hery, Pascale Richard, Erwan Donal, Boris Keren, Guillaume Duthoit, Françoise Hidden-Lucet, Eric Villard, Estelle Gandjbakhch
BACKGROUND: Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) is an inherited cardiomyopathy mainly caused by heterozygous desmosomal gene mutations, the major gene being PKP2. The genetic cause remains unknown in ~50% of probands with routine desmosomal gene screening. The aim of this study was to assess the diagnostic accuracy of whole exome sequencing (WES) in ARVC/D with negative genetic testing. METHODS: WES was performed in 22 patients, all without a mutation identified in desmosomal genes...
2017: PloS One
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#5
Gaetano Vacanti, Riccardo Maragna, Andrea Mazzanti, Silvia G Priori
PURPOSE OF REVIEW: In this chapter we will discuss the most recent and relevant evidences published in the field of inherited arrhythmogenic disorders, focusing on the so called 'channelopathies' that are associated with sudden cardiac death (SCD) in children: long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT). RECENT FINDINGS: We will discuss the latest diagnostic criteria for channelopathies released by the European Society of Cardiology, the new data on BrS in children and the recent evidence supporting a genotype-specific therapy for LQTS type 3...
July 28, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28757052/genetics-update-monogenetics-polygene-disorders-and-the-quest-for-modifying-genes
#6
REVIEW
Joseph D Symonds, Sameer M Zuberi
The genetic channelopathies are a broad collection of diseases. Many ion channel genes demonstrate wide phenotypic pleiotropy, but nonetheless concerted efforts have been made to characterise genotype-phenotype relationships. In this review we give an overview of the factors that influence genotype-phenotype relationships across this group of diseases as a whole, using specific individual channelopathies as examples. We suggest reasons for the limitations observed in these relationships. We discuss the role of ion channel variation in polygenic disease and highlight research that has contributed to unravelling the complex aetiological nature of these conditions...
July 27, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28756098/phenotypic-variability-in-lqt3-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-and-their-response-to-antiarrhythmic-pharmacologic-therapy-an-in-silico-approach
#7
Michelangelo Paci, Elisa Passini, Stefano Severi, Jari Hyttinen, Blanca Rodriguez
BACKGROUND: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are in vitro models with the clear advantages of their human origin and suitability for human disease investigations. However, limitations include their incomplete characterization and variability reported in different cell lines and laboratories. OBJECTIVE: The purpose of this study was to investigate in silico ionic mechanisms potentially explaining the phenotypic variability of hiPSC-CMs in long QT syndrome type 3 (LQT3) and their response to antiarrhythmic drugs...
July 27, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28750076/targeted-next-generation-sequencing-detects-novel-gene-phenotype-associations-and-expands-the-mutational-spectrum-in-cardiomyopathies
#8
Cinzia Forleo, Anna Maria D'Erchia, Sandro Sorrentino, Caterina Manzari, Matteo Chiara, Massimo Iacoviello, Andrea Igoren Guaricci, Delia De Santis, Rita Leonarda Musci, Antonino La Spada, Vito Marangelli, Graziano Pesole, Stefano Favale
Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium, including hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), and arrhythmogenic right ventricular cardiomyopathy (ARVC), with higher morbidity and mortality. These diseases are genetically diverse and associated with rare mutations in a large number of genes, many of which overlap among the phenotypes. To better investigate the genetic overlap between these three phenotypes and to identify new genotype-phenotype correlations, we designed a custom gene panel consisting of 115 genes known to be associated with cardiomyopathic phenotypes and channelopathies...
2017: PloS One
https://www.readbyqxmd.com/read/28728690/contemporary-outcomes-in-patients-with%C3%A2-long-qt-syndrome
#9
Ram K Rohatgi, Alan Sugrue, J Martijn Bos, Bryan C Cannon, Samuel J Asirvatham, Christopher Moir, Heidi J Owen, Katy M Bos, Teresa Kruisselbrink, Michael J Ackerman
BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal cardiac channelopathy with a 1% to 5% annual risk of LQTS-triggered syncope, aborted cardiac arrest, or sudden cardiac death. OBJECTIVES: This study sought to evaluate LQTS outcomes from a single center in the contemporary era. METHODS: The authors conducted a retrospective study comprising the 606 patients with LQTS (LQT1 in 47%, LQT2 in 34%, and LQT3 in 9%) who were evaluated in Mayo Clinic's Genetic Heart Rhythm Clinic from January 1999 to December 2015...
July 25, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28728269/-calcium-sensitive-potassium-channelopathy-with-de-novo-kcnma1-mutation-a-case-report
#10
(no author information available yet)
No abstract text is available yet for this article.
July 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28726852/autoimmune-channelopathies-questions-remain
#11
Jin Li, Ange Maguy
No abstract text is available yet for this article.
September 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28726851/autoimmune-cardiac-channelopathies-the-heart-of-the-matter
#12
Pietro Enea Lazzerini, Pier Leopoldo Capecchi, Franco Laghi-Pasini, Mohamed Boutjdir
No abstract text is available yet for this article.
September 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28721212/recent-advances-in-the-management-of-ventricular-tachyarrhythmias
#13
REVIEW
Syeda Atiqa Batul, Brian Olshansky, John D Fisher, Rakesh Gopinathannair
Ventricular arrhythmias are an important cause of cardiovascular morbidity and mortality, particularly in those with structural heart disease, inherited cardiomyopathies, and channelopathies. The goals of ventricular arrhythmia management include symptom relief, improving quality of life, reducing implantable cardioverter defibrillator shocks, preventing deterioration of left ventricular function, reducing risk of arrhythmic death, and potentially improving overall survival. Guideline-directed medical therapy and implantable cardioverter defibrillator implantation remain the mainstay of therapy to prevent sudden cardiac death in patients with ventricular arrhythmias in the setting of structural heart disease...
2017: F1000Research
https://www.readbyqxmd.com/read/28712329/organotypic-cultures-of-cerebellar-slices-as-a-model-to-investigate-demyelinating-disorders
#14
Frédéric Doussau, Jean-Luc Dupont, Dorine Neel, Aline Schneider, Bernard Poulain, Jean Louis Bossu
Demyelinating disorders, characterized by a chronic or episodic destruction of the myelin sheath, are a leading cause of neurological disability in young adults in western countries. Studying the complex mechanisms involved in axon myelination, demyelination and remyelination requires an experimental model preserving the neuronal networks and neuro-glial interactions. Organotypic cerebellar slice cultures appear to be the best alternative to in vivo experiments and the most commonly used model for investigating etiology or novel therapeutic strategies in multiple sclerosis...
July 17, 2017: Expert Opinion on Drug Discovery
https://www.readbyqxmd.com/read/28690545/spatial-patterns-of-excitation-at-tissue-and-whole-organ-level-due-to-early-afterdepolarizations
#15
REVIEW
Nele Vandersickel, Enid Van Nieuwenhuyse, Gunnar Seemann, Alexander V Panfilov
Early after depolarizations (EAD) occur in many pathological conditions, such as congenital or acquired channelopathies, drug induced arrhythmias, and several other situations that are associated with increased arrhythmogenicity. In this paper we present an overview of the relevant computational studies on spatial EAD dynamics in 1D, 2D, and in 3D anatomical models and discuss the relation of EADs to cardiac arrhythmias. We also discuss unsolved problems and highlight new lines of research in this area.
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28689025/venom-derived-peptide-inhibitors-of-voltage-gated-potassium-channels
#16
REVIEW
Raymond S Norton, K George Chandy
Voltage-gated potassium channels play a key role in human physiology and pathology. Reflecting their importance, numerous channelopathies have been characterised that arise from mutations in these channels or from autoimmune attack on the channels. Voltage-gated potassium channels are also the target of a broad range of peptide toxins from venomous organisms, including sea anemones, scorpions, spiders, snakes and cone snails; many of these peptides bind to the channels with high potency and selectivity. In this review we describe the various classes of peptide toxins that block these channels and illustrate the broad range of three-dimensional structures that support channel blockade...
July 5, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28685702/a-focus-on-pharmacological-management-of-catecholaminergic-polymorphic-ventricular-tachycardia
#17
Claudio Barbanti, Alice Maltret, Daniel Sidi
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a channelopathy characterized by adrenergic mediated ventricular arrhythmia. Untreated CPVT is a malignant syndrome with more than 50% of arrhythmic event and up to 25% of fatal or near-fatal cardiac event at 8 years follow-up. Prevention of sudden cardiac death starts with exclusion of competitive sports. Beta blockers (BB) are the cornerstone pharmacological therapy for prevention of cardiac event in CPVT patients. Dose of BB should be the highest tolerable, preferably nadolol...
July 7, 2017: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/28685698/medical-therapy-for-long-qt-syndrome
#18
George Adamos, Nicoletta Iacovidou, Theodoros Xanthos
Long QT syndrome (LQTS) is an arrhythmogenic disorder characterized by repolarization abnormalities with a propensity to cause life threatening cardiac events. The first manifestation of the syndrome may be sudden death, therefore, early diagnosis and therapy is of great importance. LQTS can be both congenital and acquired. The latter is most commonly seen in hospitalized patients and such individuals have an easily recognizable and reversible precipitating factor (electrolyte disturbances, certain drugs etc...
July 7, 2017: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/28676720/a-channelopathy-mutation-in-the-voltage-sensor-discloses-contributions-of-a-conserved-phenylalanine-to-gating-properties-of-kv1-1-channels-and-ataxia
#19
Sonia Hasan, Cecilia Bove, Gabriella Silvestri, Elide Mantuano, Anna Modoni, Liana Veneziano, Lara Macchioni, Therese Hunter, Gary Hunter, Mauro Pessia, Maria Cristina D'Adamo
Channelopathy mutations prove informative on disease causing mechanisms and channel gating dynamics. We have identified a novel heterozygous mutation in the KCNA1 gene of a young proband displaying typical signs and symptoms of Episodic Ataxia type 1 (EA1). This mutation is in the S4 helix of the voltage-sensing domain and results in the substitution of the highly conserved phenylalanine 303 by valine (p.F303V). The contributions of F303 towards K(+) channel voltage gating are unclear and here have been assessed biophysically and by performing structural analysis using rat Kv1...
July 4, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28670758/congenital-long-qt-syndrome-and-torsade-de-pointes
#20
REVIEW
Nabil El-Sherif, Gioia Turitto, Mohamed Boutjdir
Since its initial description by Jervell and Lange-Nielsen in 1957, the congenital long QT syndrome (LQTS) has been the most investigated cardiac ion channelopathy. A prolonged QT interval in the surface electrocardiogram is the sine qua non of the LQTS and is a surrogate measure of the ventricular action potential duration (APD). Congenital as well as acquired alterations in certain cardiac ion channels can affect their currents in such a way as to increase the APD and hence the QT interval. The inhomogeneous lengthening of the APD across the ventricular wall results in dispersion of APD...
July 2, 2017: Annals of Noninvasive Electrocardiology
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