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https://www.readbyqxmd.com/read/29309601/different-responses-to-exercise-between-andersen-tawil-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia
#1
Yuko Y Inoue, Takeshi Aiba, Hiro Kawata, Tomoko Sakaguchi, Wataru Mitsuma, Hiroshi Morita, Takashi Noda, Hiroshi Takaki, Keiko Toyohara, Yoshiaki Kanaya, Toshiyuki Itoi, Takeshi Mitsuhashi, Naokata Sumitomo, Yongkeun Cho, Satoshi Yasuda, Shiro Kamakura, Kengo Kusano, Yoshihiro Miyamoto, Minoru Horie, Wataru Shimizu
Aims: Andersen-Tawil Syndrome (ATS) and catecholaminergic polymorphic ventricular tachycardia (CPVT) are both inherited arrhythmic disorders characterized by bidirectional ventricular tachycardia (VT). The aim of this study was to evaluate the diagnostic value of exercise stress tests for differentiating between ATS and CPVT. Methods and results: We included 26 ATS patients with KCNJ2 mutations from 22 families and 25 CPVT patients with RyR2 mutations from 22 families...
December 22, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29262473/-clinical-challenges-in-the-management-of-catecholaminergic-polymorphic-ventricular-tachycardia-in-children
#2
H Y Ge, X M Li, H Jiang, Y Zhang, H J Liu, X C Zheng, M T Li
Objective: Catecholaminergic polymorphic ventricular tachycardia (CPVT) accounts for up to 10%-15% sudden cardiac death (SCD) in the children and young population. This study aimed to assess the current situation and challenges in CPVT clinical diagnosis. Method: A retrospective review included 11 children (7 male patients) at the First Hospital of Tsinghua University clinically diagnosed with CPVT from June 2014 to July 2017. Each patient was evaluated with detailed history, physical examination, resting 12-lead electrocardiogram(ECG), 24-h Holter, exercise stress test, Doppler echocardiography and genetic test...
December 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/29248564/el20-a-potent-antiarrhythmic-compound-selectively-inhibits-calmodulin-deficient-ryanodine-receptor-type-2
#3
Robert C Klipp, Na Li, Qiongling Wang, Tarah A Word, Martha Sibrian-Vazquez, Robert M Strongin, Xander H T Wehrens, Jonathan J Abramson
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmogenic disorder caused by mutations in the cardiac ryanodine receptor (RyR2) that increase diastolic Ca2+ leak from the sarcoplasmic reticulum (SR). Calmodulin (CaM) dissociation from RyR2 has been associated with diastolic Ca2+ leak in heart failure. OBJECTIVE: Determine if tetracaine-derivative, EL20, inhibits abnormal Ca2+ release from RyR2 in a CPVT model and the underlying mechanism of inhibition...
December 14, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29235522/an-optogenetic-arrhythmia-model-to-study-catecholaminergic-polymorphic-ventricular-tachycardia-mutations
#4
Elisabeth Fischer, Alexander Gottschalk, Christina Schüler
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition of abnormal heart rhythm (arrhythmia), induced by physical activity or stress. Mutations in ryanodine receptor 2 (RyR2), a Ca2+ release channel located in the sarcoplasmic reticulum (SR), or calsequestrin 2 (CASQ2), a SR Ca2+ binding protein, are linked to CPVT. For specific drug development and to study distinct arrhythmias, simple models are required to implement and analyze such mutations. Here, we introduced CPVT inducing mutations into the pharynx of Caenorhabditis elegans, which we previously established as an optogenetically paced heart model...
December 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29178653/compound-heterozygous-casq2-mutations-and-long-term-course-of-catecholaminergic-polymorphic-ventricular-tachycardia
#5
Katherine Josephs, Kunjan Patel, Christopher M Janson, Cristina Montagna, Thomas V McDonald
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal inherited cardiac disorder characterized by episodic ventricular tachycardia during adrenergic stimulation. It is associated with significant morbidity and mortality. Knowledge of the underlying genetic cause, pathogenesis, and the natural history of the disease remains incomplete. Approximately 50% of CPVT cases are caused by dominant mutations in the cardiac ryanodine receptor (RYR2) gene, <5% of cases are accounted for by recessive mutations in cardiac calsequestrin (CASQ2) or Triadin (TRDN)...
November 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29032884/the-genetics-underlying-idiopathic-ventricular-fibrillation-a-special-role-for-catecholaminergic-polymorphic-ventricular-tachycardia
#6
Jaakko T Leinonen, Lia Crotti, Aurora Djupsjöbacka, Silvia Castelletti, Nella Junna, Alice Ghidoni, Annukka M Tuiskula, Carla Spazzolini, Federica Dagradi, Matti Viitasalo, Kimmo Kontula, Maria-Christina Kotta, Elisabeth Widén, Heikki Swan, Peter J Schwartz
BACKGROUND: Ventricular fibrillation (VF) is a major cause of sudden cardiac death. In some cases clinical investigations fail to identify the underlying cause and the event is classified as idiopathic (IVF). Since mutations in arrhythmia-associated genes frequently determine arrhythmia susceptibility, screening for disease-predisposing variants could improve IVF diagnostics. METHODS AND RESULTS: The study included 76 Finnish and Italian patients with a mean age of 31...
October 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29030236/long-term-aerobic-exercise-in-calsequestrin2-knockout-mice-accentuates-vagal-antagonism-during-%C3%AE-adrenergic-stimulation-which-restricts-heart-rate-acceleration-and-paradoxically-increases-abnormal-ryanodine-receptor-calcium-leak-in-ventricular-myocytes
#7
Hsiang-Ting Ho, Senthil Thambidorai, Björn C Knollmann, George E Billman, Sandor Györke, Anuradha Kalyanasundaram
BACKGROUND: Long-term aerobic exercise alters autonomic balance, which may not be favorable in heart rate (HR)-dependent arrhythmic diseases including catecholaminergic polymorphic ventricular tachycardia (CPVT) because of preexisting bradycardia and increased sensitivity to parasympathetic stimulation. OBJECTIVE: The purpose of this study was to determine whether long-term exercise-induced autonomic adaptations modify CPVT susceptibility. METHODS: We determined exercise-induced parasympathetic effects on HR, arrhythmia incidence, and intracellular sarcoplasmic reticulum (SR) Ca(2+) leak in atrial (ACM) and ventricular (VCM) cardiomyocytes, in exercised (EX) calsequestrin knockout (CASQ2(-/-)) mice, a model of CPVT...
October 10, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28961276/cpvt-associated-cardiac-ryanodine-receptor-mutation-g357s-with-reduced-penetrance-impairs-ca2-release-termination-and-diminishes-protein-expression
#8
Yingjie Liu, Jinhong Wei, Siobhan M Wong King Yuen, Bo Sun, Yijun Tang, Ruiwu Wang, Filip Van Petegem, S R Wayne Chen
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of the most lethal inherited cardiac arrhythmias mostly linked to cardiac ryanodine receptor (RyR2) mutations with high disease penetrance. Interestingly, a novel RyR2 mutation G357S discovered in a large family of more than 1400 individuals has reduced penetrance. The molecular basis for the incomplete disease penetrance in this family is unknown. To gain insights into the variable disease expression in this family, we determined the impact of the G357S mutation on RyR2 function and expression...
2017: PloS One
https://www.readbyqxmd.com/read/28940060/psychosocial-implications-of-living-with-catecholaminergic-polymorphic-ventricular-tachycardia-in-adulthood
#9
Ebony Richardson, Catherine Spinks, Andrew Davis, Christian Turner, John Atherton, Julie McGaughran, Christopher Semsarian, Jodie Ingles
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited arrhythmogenic disease with a high risk of sudden cardiac death. The impact on health-related quality of life (HR-QoL) and psychosocial outcomes is not known. We sought to provide the first description of HR-QoL and psychosocial wellbeing of adults with CPVT, parents of affected children and at-risk relatives. Participants were recruited through the Australian Genetic Heart Disease Registry and invited to complete a cross-sectional survey comprising a number of validated scales and open-ended questions...
September 23, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28917558/cardiac-sympathectomy-for-the-management-of-ventricular-arrhythmias-refractory-to-catheter-ablation
#10
Travis Richardson, Ricardo Lugo, Pablo Saavedra, George Crossley, Walter Clair, Sharon Shen, Juan Carlos Estrada, Jay Montgomery, M Benjamin Shoemaker, Christopher Ellis, Gregory F Michaud, Eric Lambright, Arvindh N Kanagasundram
BACKGROUND: Catheter ablation is now a mainstay of therapy for ventricular arrhythmias (VAs). However, there are scenarios where either physiological or anatomical factors make ablation less likely to be successful. OBJECTIVE: The purpose of this study was to demonstrate that cardiac sympathetic denervation (CSD) may be an alternate therapy for patients with difficult-to-ablate VAs. METHODS: We identified all patients referred for CSD at a single center for indications other than long QT syndrome and catecholaminergic polymorphic ventricular tachycardia who had failed catheter ablation...
September 14, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28789916/flecainide-reduces-ventricular-arrhythmias-in-patients-with-genotype-ryr2-positive-catecholaminergic-polymorphic-ventricular-tachycardia
#11
Fernando Wangüemert Pérez, Julio Salvador Hernández Afonso, María Del Val Groba Marco, Eduardo Caballero Dorta, Luis Álvarez Acosta, Oscar Campuzano Larrea, Guillermo Pérez, Josep Brugada Terradellas, Ramón Brugada Terradellas
INTRODUCTION AND OBJECTIVES: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited disease characterized by polymorphic or bidirectional ventricular arrhythmias (VA) triggered by physical or emotional stress in young people with a structurally normal heart. Beta-blockers are the cornerstone of treatment, while flecainide has recently been incorporated into the therapeutic arsenal. The aim of this study was to report our experience with this drug. METHODS: The cohort included 174 genotype-positive CPVT-patients from 7 families...
August 5, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#12
Gaetano Vacanti, Riccardo Maragna, Silvia G Priori, Andrea Mazzanti
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...
October 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28687594/reduced-threshold-for-store-overload-induced-ca-2-release-is-a-common-defect-of-ryr1-mutations-associated-with-malignant-hyperthermia-and-central-core-disease
#13
COMPARATIVE STUDY
Wenqian Chen, Andrea Koop, Yingjie Liu, Wenting Guo, Jinhong Wei, Ruiwu Wang, David H MacLennan, Robert T Dirksen, Sui Rong Wayne Chen
Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), whereas mutations in the cardiac ryanodine receptor (RyR2) lead to catecholaminergic polymorphic ventricular tachycardia (CPVT). Most disease-associated RyR1 and RyR2 mutations are located in the N-terminal, central, and C-terminal regions of the corresponding ryanodine receptor (RyR) isoform. An increasing body of evidence demonstrates that CPVT-associated RyR2 mutations enhance the propensity for spontaneous Ca(2+) release during store Ca(2+) overload, a process known as store overload-induced Ca(2+) release (SOICR)...
August 7, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28685702/a-focus-on-pharmacological-management-of-catecholaminergic-polymorphic-ventricular-tachycardia
#14
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/28620067/allele-specific-silencing-of-mutant-mrna-rescues-ultrastructural-and-arrhythmic-phenotype-in-mice-carriers-of-the-r4496c-mutation-in-the-ryanodine-receptor-gene-ryr2
#15
Rossana Bongianino, Marco Denegri, Andrea Mazzanti, Francesco Lodola, Alessandra Vollero, Simona Boncompagni, Silvia Fasciano, Giulia Rizzo, Damiano Mangione, Serena Barbaro, Alessia Di Fonso, Carlo Napolitano, Alberto Auricchio, Feliciano Protasi, Silvia G Priori
RATIONALE: Mutations in the cardiac Ryanodine Receptor gene (RYR2) cause dominant catecholaminergic polymorphic ventricular tachycardia (CPVT), a leading cause of sudden death in apparently healthy individuals exposed to emotions or physical exercise. OBJECTIVE: We investigated the efficacy of allele-specific silencing by RNA interference to prevent CPVT phenotypic manifestations in our dominant CPVT mice model carriers of the heterozygous mutation R4496C in RYR2...
August 18, 2017: Circulation Research
https://www.readbyqxmd.com/read/28605744/a-clinical-case-of-catecholaminergic-polymorphic-ventricular-tachycardia-the-clinical-suspicious-and-the-need-of-genetics
#16
Annamaria Del Franco, Francesca Gualandi, Michele Malagù, Alessandra Ferlini, Dang Xiao, Roberto Ferrari, Matteo Bertini
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a very rare genetic cardiac channelopathy, which has not been sufficiently studied yet. The first clinical manifestation has been described during the first decade of life, linked to strenuous exercise or acute emotion. The absence of structural heart disease and a family history of possible arrhythmogenic disorder generally guide the diagnosis towards a potential channelopathy. The opportunity to perform an extensive genetic analysis allows physicians to make the correct diagnosis and to optimize clinical management...
2017: Cardiology
https://www.readbyqxmd.com/read/28534204/-ventricular-arrhythmias-in-ion-channel-diseases
#17
REVIEW
Christian Wolpert, Mara Vogel, Christian Nagel, Claudia Herrera-Siklody, Norman Rüb
In patients with ion channel disease the predominant arrhythmias are polymorphic ventricular tachycardias (VT), torsade de pointes tachycardia and ventricular fibrillation (VF). In only extremely rare cases is very rapid monomorphic ventricular tachycardia observed. This is why implantable cardioverter-defibrillators (ICDs) should always be programmed for treatment of VF only with high detection rates to avoid inappropriate discharges. In idiopathic VF and catecholaminergic polymorphic ventricular tachycardia (CPVT), no baseline electrocardiographic abnormalities can be detected, whereas in Brugada syndrome, long QT syndrome, early repolarisation syndrome and Anderson-Tawil syndrome alterations of the baseline ECG are very important to identify patients at risk...
June 2017: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/28492868/efficacy-of-flecainide-in-the-treatment-of-catecholaminergic-polymorphic-ventricular-tachycardia-a-randomized-clinical-trial
#18
Prince J Kannankeril, Jeremy P Moore, Marina Cerrone, Silvia G Priori, Naomi J Kertesz, Pamela S Ro, Anjan S Batra, Elizabeth S Kaufman, David L Fairbrother, Elizabeth V Saarel, Susan P Etheridge, Ronald J Kanter, Michael P Carboni, Matthew V Dzurik, Darlene Fountain, Heidi Chen, E Wesley Ely, Dan M Roden, Bjorn C Knollmann
Importance: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal genetic arrhythmia syndrome characterized by polymorphic ventricular tachycardia with physical or emotional stress, for which current therapy with β-blockers is incompletely effective. Flecainide acetate directly suppresses sarcoplasmic reticulum calcium release-the cellular mechanism responsible for triggering ventricular arrhythmias in CPVT-but has never been assessed prospectively. Objective: To determine whether flecainide dosed to therapeutic levels and added to β-blocker therapy is superior to β-blocker therapy alone for the prevention of exercise-induced arrhythmias in CPVT...
July 1, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28422759/ryr2r420q-catecholaminergic-polymorphic-ventricular-tachycardia-mutation-induces-bradycardia-by-disturbing-the-coupled-clock-pacemaker-mechanism
#19
Yue Yi Wang, Pietro Mesirca, Elena Marqués-Sulé, Alexandra Zahradnikova, Olivier Villejoubert, Pilar D'Ocon, Cristina Ruiz, Diana Domingo, Esther Zorio, Matteo E Mangoni, Jean-Pierre Benitah, Ana María Gómez
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal genetic arrhythmia that manifests syncope or sudden death in children and young adults under stress conditions. CPVT patients often present bradycardia and sino-atrial node (SAN) dysfunction. However, the mechanism remains unclear. We analyzed SAN function in two CPVT families and in a novel knock-in (KI) mouse model carrying the RyR2R420Q mutation. Humans and KI mice presented slower resting heart rate. Accordingly, the rate of spontaneous intracellular Ca2+ ([Ca2+]i) transients was slower in KI mouse SAN preparations than in WT, without any significant alteration in the "funny" current (If )...
April 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28404607/interpreting-incidentally-identified-variants-in-genes-associated-with-catecholaminergic-polymorphic-ventricular-tachycardia-in-a-large-cohort-of-clinical-whole-exome-genetic-test-referrals
#20
Andrew P Landstrom, Andrew L Dailey-Schwartz, Jill A Rosenfeld, Yaping Yang, Margaret J McLean, Christina Y Miyake, Santiago O Valdes, Yuxin Fan, Hugh D Allen, Daniel J Penny, Jeffrey J Kim
BACKGROUND: The rapid expansion of genetic testing has led to increased utilization of clinical whole-exome sequencing (WES). Clinicians and genetic researchers are being faced with assessing risk of disease vulnerability from incidentally identified genetic variants which is typified by variants found in genes associated with sudden death-predisposing catecholaminergic polymorphic ventricular tachycardia (CPVT). We sought to determine whether incidentally identified variants in genes associated with CPVT from WES clinical testing represent disease-associated biomarkers...
April 2017: Circulation. Arrhythmia and Electrophysiology
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