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catecholaminergic polymorphic ventricular tachycardia

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https://www.readbyqxmd.com/read/27909533/patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes-for-drug-development-and-screening-in-catecholaminergic-polymorphic-ventricular-tachycardia
#1
REVIEW
Ben Jehuda Ronen, Barad Lili
Catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmia often leading to sudden cardiac death in children and young adults, is characterized by polymorphic/bidirectional ventricular tachycardia induced by adrenergic stimulation associated with emotionally stress or physical exercise. There are two forms of CPVT: 1. CPVT1 is caused by mutations in the RYR2 gene, encoding for ryanodine receptor type 2. CPVT1 is the most common form of CPVT in the population, and is inherited by a dominant mechanism...
August 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/27861184/catecholaminergic-polymorphic-ventricular-tachycardia-a-model-for-genotype-specific-therapy
#2
Thomas M Roston, Filip Van Petegem, Shubhayan Sanatani
PURPOSE OF REVIEW: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a life-threatening syndrome defined by exercise-induced or emotion-induced ventricular arrhythmias, typically caused by gain-of-function mutations in RYR2-encoded ryanodine receptor-2 (RyR2). This review will discuss recent advances and ongoing challenges in devising genotype-specific CPVT therapies. RECENT FINDINGS: CPVT patients were once universally thought to be at high risk of sudden death; however, as more cases emerge, CPVT is being re-defined as a complex syndrome of variable expressivity...
January 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/27861123/tecrl-a-new-life-threatening-inherited-arrhythmia-gene-associated-with-overlapping-clinical-features-of-both-lqts-and-cpvt
#3
Harsha D Devalla, Roselle Gélinas, Elhadi H Aburawi, Abdelaziz Beqqali, Philippe Goyette, Christian Freund, Marie-A Chaix, Rafik Tadros, Hui Jiang, Antony Le Béchec, Jantine J Monshouwer-Kloots, Tom Zwetsloot, Georgios Kosmidis, Frédéric Latour, Azadeh Alikashani, Maaike Hoekstra, Jurg Schlaepfer, Christine L Mummery, Brian Stevenson, Zoltan Kutalik, Antoine Af de Vries, Léna Rivard, Arthur Am Wilde, Mario Talajic, Arie O Verkerk, Lihadh Al-Gazali, John D Rioux, Zahurul A Bhuiyan, Robert Passier
Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole-exome sequencing (WES) was carried out on patients from three different families that presented with life-threatening arrhythmias and high risk of sudden cardiac death (SCD). Two French Canadian probands carried identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans-2,3-enoyl-CoA reductase-like protein. Both patients had cardiac arrest, stress-induced atrial and ventricular tachycardia, and QT prolongation on adrenergic stimulation...
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27844191/-indications-for-implantable-loop-recorders-in-patients-with-channelopathies-and-ventricular-tachycardias
#4
Julia Köbe, Kristina Wasmer, Florian Reinke, Lars Eckardt
Implantable loop recorders (ILR) do not play a pivotal role in the current guidelines on ventricular arrhythmias except in identifying rhythm-symptom correlations if ventricular arrhythmias are assumed. Before a decision for a pure diagnostic implantable device is made, a thorough arrhythmic risk assessment is of major importance due to the potential lethal outcome of ventricular arrhythmias. Nevertheless, some clinical circumstances exist where long-term monitoring by an ILR may add significant information in electrical heart diseases, in patients with ventricular arrhythmias, or structural heart diseases and a potential risk of ventricular arrhythmias...
November 14, 2016: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/27764147/patient-specific-human-induced-pluripotent-stem-cell-model-assessed-with-electrical-pacing-validates-s107-as-a-potential-therapeutic-agent-for-catecholaminergic-polymorphic-ventricular-tachycardia
#5
Kenichi Sasaki, Takeru Makiyama, Yoshinori Yoshida, Yimin Wuriyanghai, Tsukasa Kamakura, Suguru Nishiuchi, Mamoru Hayano, Takeshi Harita, Yuta Yamamoto, Hirohiko Kohjitani, Sayako Hirose, Jiarong Chen, Mihoko Kawamura, Seiko Ohno, Hideki Itoh, Ayako Takeuchi, Satoshi Matsuoka, Masaru Miura, Naokata Sumitomo, Minoru Horie, Shinya Yamanaka, Takeshi Kimura
INTRODUCTION: Human induced pluripotent stem cells (hiPSCs) offer a unique opportunity for disease modeling. However, it is not invariably successful to recapitulate the disease phenotype because of the immaturity of hiPSC-derived cardiomyocytes (hiPSC-CMs). The purpose of this study was to establish and analyze iPSC-based model of catecholaminergic polymorphic ventricular tachycardia (CPVT), which is characterized by adrenergically mediated lethal arrhythmias, more precisely using electrical pacing that could promote the development of new pharmacotherapies...
2016: PloS One
https://www.readbyqxmd.com/read/27761165/catheter-ablation-for-ventricular-tachyarrhythmia-in-patients-with-channelopathies
#6
Nobuyuki Murakoshi, Kazutaka Aonuma
Drug treatment and/or implantable cardioverter defibrillator (ICD) implantation are the most widely accepted first-line therapies for channelopathic patients who have recurrent syncope, sustained ventricular tachycardia (VT), or documented ventricular fibrillation (VF), or are survivors of cardiac arrest. In recent years, there have been significant advances in mapping techniques and ablation technology, coupled with better understanding of the mechanisms of ventricular tachyarrhythmia in channelopathies. Catheter ablation has provided important insights into the role of the Purkinje network and the right ventricular outflow tract in the initiation and perpetuation of VT/VF, and has evolved as a promising treatment modality for ventricular tachyarrhythmia even in channelopathies...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#7
Christopher Semsarian, Jodie Ingles
Sudden cardiac death (SCD) is a rare but devastating complication of a number of underlying cardiovascular diseases. While coronary artery disease and acute myocardial infarction are the most common causes of SCD in older populations, inherited cardiac disorders comprise a substantial proportion of SCD cases aged less than 40 years. Inherited cardiac disorders include primary inherited arrhythmogenic disorders such as familial long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and inherited cardiomyopathies, most commonly hypertrophic cardiomyopathy (HCM)...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27761157/current-topics-in-catecholaminergic-polymorphic-ventricular-tachycardia
#8
Naokata Sumitomo
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is induced by emotions or exercise in patients without organic heart disease and may be polymorphic or bidirectional in nature. The prognosis of CPVT is not good, and therefore prevention of sudden death is of utmost importance. Genetic variants of CPVT include RyR2, CASQ2, CALM2, TRD, and possibly KCNJ2 and ANK2 gene mutations. Hypotheses that suggest the causes of CPVT include weakened binding of FKBP12.6 and RyR2, a store overload-induced Ca(2+) release (SOICR), unzipping of intramolecular domain interactions in RyR2, and molecular and functional abnormalities caused by mutations in the CASQ2 gene...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27761156/left-cardiac-sympathetic-denervation-an-important-treatment-option-for-patients-with-hereditary-ventricular-arrhythmias
#9
Yongkeun Cho
Medications such as ß-blockers are currently the primary treatment for patients with hereditary arrhythmia syndromes such as long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). However, these drugs are ineffective in some patients, and the other treatment option, that is implantable cardioverter defibrillator (ICD) implantation, is associated with significant complications in young and active patients. Left cardiac sympathetic denervation (LCSD) may reduce the wide gap between life-long ß-blocker medication and ICD implantation...
October 2016: Journal of Arrhythmia
https://www.readbyqxmd.com/read/27747307/neuronal-na-channels-are-integral-components-of-pro-arrhythmic-na-ca-2-signaling-nanodomain-that-promotes-cardiac-arrhythmias-during-%C3%AE-adrenergic-stimulation
#10
Przemysław B Radwański, Hsiang-Ting Ho, Rengasayee Veeraraghavan, Lucia Brunello, Bin Liu, Andriy E Belevych, Sathya D Unudurthi, Michael A Makara, Silvia G Priori, Pompeo Volpe, Antonis A Armoundas, Wolfgang H Dillmann, Bjorn C Knollmann, Peter J Mohler, Thomas J Hund, Sándor Györke
BACKGROUND: Cardiac arrhythmias are a leading cause of death in the US. Vast majority of these arrhythmias including catecholaminergic polymorphic ventricular tachycardia (CPVT) are associated with increased levels of circulating catecholamines and involve abnormal impulse formation secondary to aberrant Ca(2+) and Na(+) handling. However, the mechanistic link between β-AR stimulation and the subcellular/molecular arrhythmogenic trigger(s) remains elusive. METHODS AND RESULTS: We performed functional and structural studies to assess Ca(2+) and Na(+) signaling in ventricular myocyte as well as surface electrocardiograms in mouse models of cardiac calsequestrin (CASQ2)-associated CPVT...
June 2016: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/27733687/enhanced-cytosolic-ca2-activation-underlies-a-common-defect-of-central-domain-cardiac-ryanodine-receptor-mutations-linked-to-arrhythmias
#11
Zhichao Xiao, Wenting Guo, Bo Sun, Donald J Hunt, Jinhong Wei, Yingjie Liu, Yundi Wang, Ruiwu Wang, Peter P Jones, Thomas G Back, S R Wayne Chen
Recent three-dimensional structural studies reveal that the central domain of ryanodine receptor (RyR) serves as a transducer that converts long-range conformational changes into the gating of the channel pore. Interestingly, the central domain encompasses one of the mutation hotspots (corresponding to amino acid residues 3778-4201) that contains a number of cardiac RyR (RyR2) mutations associated with catecholaminergic polymorphic ventricular tachycardia (CPVT) and atrial fibrillation (AF). However, the functional consequences of these central domain RyR2 mutations are not well understood...
November 18, 2016: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/27711080/adeno-associated-virus-mediated-casq2-delivery-rescues-phenotypic-alterations-in-a-patient-specific-model-of-recessive-catecholaminergic-polymorphic-ventricular-tachycardia
#12
Francesco Lodola, Diego Morone, Marco Denegri, Rossana Bongianino, Hiroko Nakahama, Lucia Rutigliano, Rosanna Gosetti, Giulia Rizzo, Alessandra Vollero, Michelangelo Buonocore, Carlo Napolitano, Gianluigi Condorelli, Silvia G Priori, Elisa Di Pasquale
Catecholaminergic Polymorphic Ventricular Tachycardia type 2 (CPVT2) is a highly lethal recessive arrhythmogenic disease caused by mutations in the calsequestrin-2 (CASQ2) gene. We have previously demonstrated that viral transfer of the wild-type (WT) CASQ2 gene prevents the development of CPVT2 in a genetically induced mouse model of the disease homozygous carrier of the R33Q mutation. In the present study, we investigated the efficacy of the virally mediated gene therapy in cardiomyocytes (CMs) differentiated from induced pluripotent stem cells (iPSCs) obtained from a patient carrying the homozygous CASQ2-G112+5X mutation...
October 6, 2016: Cell Death & Disease
https://www.readbyqxmd.com/read/27668923/catecholaminergic-polymorphic-ventricular-tachycardia-as-the-etiology-of-emergency-medical-services-reported-traumatic-arrest
#13
James Bailey, Ross P Berkeley
A 13-year-old girl had a witnessed loss of consciousness after a scuffle with another student at school and was found in ventricular fibrillation at the time of arrival of emergency medical services personnel. The patient was successfully defibrillated in the field and was transported to the emergency department as a presumed "traumatic arrest". The patient's initial electrocardiogram was remarkable for a prolonged QT interval, and it was discovered that multiple family members had died of cardiac events as young adults...
September 23, 2016: Pediatric Emergency Care
https://www.readbyqxmd.com/read/27659101/beta-blocker-therapy-for-long-qt-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia-are-all-beta-blockers-equivalent
#14
Michael J Ackerman, Silvia G Priori, Anne Dubin, Peter Kowey, Nicholas J Linker, David Slotwiner, John Triedman, George F Van Hare, Michael R Gold
No abstract text is available yet for this article.
September 19, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27646203/a-novel-ryr2-loss-of-function-mutation-i4855m-is-associated-with-left-ventricular-non-compaction-and-atypical-catecholaminergic-polymorphic-ventricular-tachycardia
#15
Thomas M Roston, Wenting Guo, Andrew D Krahn, Ruiwu Wang, Filip Van Petegem, Shubhayan Sanatani, S R Wayne Chen, Anna Lehman
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an ion channelopathy usually caused by gain-of-function mutations ryanodine receptor type-2 (RyR2). Left ventricular non-compaction (LVNC) is an often genetic cardiomyopathy. A rare LVNC-CPVT overlap syndrome may be caused by exon 3 deletion in RyR2. We sought to characterize the phenotypic spectrum and molecular basis of a novel RyR2 mutation identified in a family with both conditions. METHODS: Several members of an affected family underwent clinical and genetic assessments...
September 8, 2016: Journal of Electrocardiology
https://www.readbyqxmd.com/read/27635072/cardiac-abnormalities-in-first-degree-relatives-of-unexplained-cardiac-arrest-victims-a-report-from-the-cardiac-arrest-survivors-with-preserved-ejection-fraction-registry
#16
Christian Steinberg, Gareth J Padfield, Jean Champagne, Shubhayan Sanatani, Paul Angaran, Jason G Andrade, Jason D Roberts, Jeffrey S Healey, Vijay S Chauhan, David H Birnie, Mikyla Janzen, Brenda Gerull, George J Klein, Richard Leather, Christopher S Simpson, Colette Seifer, Mario Talajic, Martin Gardner, Andrew D Krahn
BACKGROUND: Unexplained cardiac arrest (UCA) may be explained by inherited arrhythmia syndromes. The Cardiac Arrest Survivors With Preserved Ejection Fraction Registry prospectively assessed first-degree relatives of UCA or sudden unexplained death victims to screen for cardiac abnormalities. METHODS AND RESULTS: Around 398 first-degree family members (186 UCA, 212 sudden unexplained death victims' relatives; mean age, 44±17 years) underwent extensive cardiac workup, including ECG, signal averaged ECG, exercise testing, cardiac imaging, Holter-monitoring, and selective provocative drug testing with epinephrine or procainamide...
September 2016: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/27623776/nebivolol-suppresses-cardiac-ryanodine-receptor-mediated-spontaneous-ca2-release-and-catecholaminergic-polymorphic-ventricular-tachycardia
#17
Zhen Tan, Zhichao Xiao, Jinhong Wei, Jingqun Zhang, Qiang Zhou, Chris D Smith, Alma Nani, Guogen Wu, Long-Sheng Song, Thomas G Back, Michael Fill, S R Wayne Wayne Chen
Beta-blockers are a standard treatment for heart failure and cardiac arrhythmias. There are about 30 commonly used beta-blockers representing a diverse class of drugs with different receptor affinities and pleiotropic properties. We reported that among 14 beta-blockers tested previously, only carvedilol effectively suppressed cardiac ryanodine receptor (RyR2) mediated spontaneous Ca(2+) waves during store Ca(2+) overload, also known as store-overload induced Ca(2+) release (SOICR). Given the critical role of SOICR in arrhythmogenesis, it is of importance to determine whether there are other beta-blockers that suppress SOICR...
September 13, 2016: Biochemical Journal
https://www.readbyqxmd.com/read/27600096/nonalternans-repolarization-variability-and-arrhythmia-the-calcium-connection
#18
Jan Němec
Repolarization alternans precedes certain types of ventricular arrhythmias and its presence may be prognostically useful, but some ventricular arrhythmias are not preceded by repolarization alternans. Nonalternans changes of ventricular repolarization occur in patients with coronary artery disease and in subjects with congenital long QT syndrome. In animal experiments, nonalternans repolarization lability occurs in a canine model of chronic AV block with propensity to polymorphic ventricular tachycardia, in the perfused rabbit heart exposed to IKr block, and in a murine model of catecholaminergic polymorphic ventricular tachycardia...
August 17, 2016: Journal of Electrocardiology
https://www.readbyqxmd.com/read/27582498/suppression-of-ryanodine-receptor-function-prolongs-ca2-release-refractoriness-and-promotes-cardiac-alternans-in-intact-hearts
#19
Xiaowei Zhong, Bo Sun, Alexander Vallmitjana, Tao Mi, Wenting Guo, Mingke Ni, Ruiwu Wang, Ang Guo, Henry J Duff, Anne M Gillis, Long-Sheng Song, Leif Hove-Madsen, Raul Benitez, S R Wayne Wayne Chen
Beat-to-beat alternations in the amplitude of the cytosolic Ca(2+) transient (Ca(2+) alternans) are thought to be the primary cause of cardiac alternans that can lead to cardiac arrhythmias and sudden death. Despite its important role in arrhythmogenesis, the mechanism underlying Ca(2+) alternans remains poorly understood. Here we investigated the role of cardiac ryanodine receptor (RyR2), the major Ca(2+) release channel responsible for cytosolic Ca(2+) transients, in cardiac alternans. Using a unique mouse model harboring a suppression-of-function (SOF) RyR2 mutation (E4872Q), we assessed the effect of genetically suppressing RyR2 function on Ca(2+) and action potential duration (APD) alternans in intact hearts, and electrocardiogram (ECG) alternans in vivo...
August 31, 2016: Biochemical Journal
https://www.readbyqxmd.com/read/27539163/catecholaminergic-polymorphic-ventricular-tachycardia-associated-with-sinus-node-dysfunction-and-junctional-rhythm-case-report-and-literature-review
#20
Natale Daniele Brunetti, Pier Luigi Pellegrino, Girolamo D'Arienzo, Rafel Sai, Luigi Ziccardi, Francesco Santoro, Antonio Gaglione, Matteo Di Biase
We report the case of a 38-year-old woman with history of syncope and polymorphic ventricular tachycardia; tachycardia was inducible at exercise stress test, not at electrophysiologic study. Phases of QT prolongation were found at ambulatory electrocardiogram monitoring. The woman came to our attention for periodic control of implantable loop recorder. Rest electrocardiogram at admission unexpectedly showed sinus bradycardia, junctional rhythm, and ventricular premature beats. Furthermore, loop recorder control revealed a short run of bidirectional tachycardia, not associated with syncope...
July 28, 2016: Journal of Electrocardiology
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