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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
#1
Wenqian Chen, Andrea Koop, Yingjie Liu, Wenting Guo, Jinhong Wei, Ruiwu Wang, David H MacLennan, Robert T Dirksen, S R Wayne Chen
Mutations in the skeletal muscle ryanodine receptor (RyR1) cause malignant hyperthermia (MH) and central core disease (CCD), while 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 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)...
July 7, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28685702/a-focus-on-pharmacological-management-of-catecholaminergic-polymorphic-ventricular-tachycardia
#2
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
#3
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 phenotypical manifestations in our dominant CPVT mice model carriers of the heterozygous mutation R4496C in RYR2Methods and Results: We developed an in vitro mRNA and protein-based assays to screen multiple siRNAs for their ability to selectively silence mutant RYR2-R4496C mRNA over the corresponding wild-type (WT) allele...
June 15, 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
#4
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...
June 13, 2017: Cardiology
https://www.readbyqxmd.com/read/28534204/-ventricular-arrhythmias-in-ion-channel-diseases
#5
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...
May 22, 2017: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/28492868/efficacy-of-flecainide-in-the-treatment-of-catecholaminergic-polymorphic-ventricular-tachycardia-a-randomized-clinical-trial
#6
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
#7
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
#8
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
https://www.readbyqxmd.com/read/28369767/multiple-targets-for-flecainide-action-implications-for-cardiac-arrhythmogenesis
#9
REVIEW
Samantha C Salvage, Karthik H Chandrasekharan, Kamalan Jeevaratnam, Angela F Dulhunty, Andrew J Thompson, Antony P Jackson, Christopher L-H Huang
Flecainide suppresses cardiac tachyarrhythmias including paroxysmal atrial fibrillation, supraventricular tachycardia and arrhythmic long QT syndromes (LQTS), as well as the Ca(2+) -mediated, catecholaminergic polymorphic ventricular tachycardia (CPVT). However, flecainide can also exert pro-arrhythmic effects most notably following myocardial infarction and when used to diagnose Brugada syndrome (BrS). These divergent actions result from its physiological and pharmacological actions at multiple, interacting levels of cellular organization...
April 3, 2017: British Journal of Pharmacology
https://www.readbyqxmd.com/read/28343764/temporary-removal-channelopathies-genetic-testing-and-risk-stratification
#10
Arthur A M Wilde, Ahmad Amin
The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.
March 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28238200/left-cardiac-sympathetic-denervation-case-series-and-technical-report
#11
C McNamara, P Cullen, M Rackauskas, R Kelly, K E O'Sullivan, J Galvin, D Eaton
BACKGROUND: Left cardiac sympathetic denervation (LCSD) is a surgical procedure that has been shown to have an antiarrhythmic and antifibrillatory effect. Evidence indicating its antiarrhythmic effect has been available for over 100 years. It involves the removal of the lower half of the stellate ganglion and T2-T4 of the sympathetic ganglia and is carried out as either a unilateral or bilateral procedure. With advancements in thoracic surgery, it can be safely performed via a minimally invasive Video-Assisted Thoracoscopic Surgery (VATS) approach resulting in significantly less morbidity and a shortened inpatient stay...
February 25, 2017: Irish Journal of Medical Science
https://www.readbyqxmd.com/read/28237968/nationwide-experience-of-catecholaminergic-polymorphic-ventricular-tachycardia-caused-by-ryr2-mutations
#12
Anders Krogh Broendberg, Jens Cosedis Nielsen, Jesper Bjerre, Lisbeth Noerum Pedersen, Jens Kristensen, Finn Lund Henriksen, Henning Bundgaard, Henrik Kjaerulf Jensen
OBJECTIVE: The aim of this study was to characterise disease penetrance, course of disease and use of antiarrhythmic medication and implantable cardioverter-defibrillator (ICD) therapy in a Danish nationwide cohort of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) due to mutations in the ryanodine receptor-2 (RyR2) gene. METHODS: The study population was identified through the national hereditary heart disease database (Progeny). The study population was divided into three groups: probands, symptomatic and asymptomatic relatives...
February 25, 2017: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/28233036/avoiding-sports-related-sudden-cardiac-death-in-children-with-congenital-channelopathy-recommendations-for-sports-activities
#13
C N Lang, J Steinfurt, K E Odening
For the past few years, children affected by an inherited channelopathy have been counseled to avoid (recreational) sports activities and all competitive sports so as to prevent exercise-induced arrhythmia and sudden cardiac death. An increased understanding of the pathophysiological mechanisms, better anti-arrhythmic strategies, and, in particular, more epidemiological data on exercise-induced arrhythmia in active athletes with channelopathies have changed the universal recommendation of "no sports," leading to revised, less strict, and more differentiated guidelines (published by the American Heart Association/American College of Cardiology in 2015)...
April 2017: Herz
https://www.readbyqxmd.com/read/28219898/sk4-k-channels-are-therapeutic-targets-for-the-treatment-of-cardiac-arrhythmias
#14
Shiraz Haron-Khun, David Weisbrod, Hanna Bueno, Dor Yadin, Joachim Behar, Asher Peretz, Ofer Binah, Edith Hochhauser, Michael Eldar, Yael Yaniv, Michael Arad, Bernard Attali
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a stress-provoked ventricular arrhythmia, which also manifests sinoatrial node (SAN) dysfunction. We recently showed that SK4 calcium-activated potassium channels are important for automaticity of cardiomyocytes derived from human embryonic stem cells. Here SK4 channels were identified in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from healthy and CPVT2 patients bearing a mutation in calsequestrin 2 (CASQ2-D307H) and in SAN cells from WT and CASQ2-D307H knock-in (KI) mice...
April 2017: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/28100344/-recurrent-syncope-related-to-catecholaminergic-polymorphic-ventricular-tachycardia-due-to-de-novo-ryr2-r2401h-mutation
#15
X Liu, J X Li, J Z Hu, Y Shen, R Wan, Q M Xiong, Q Q Zhou, J Y Xie, J J Jin, X Yan, J H Yu, K Hong
Objective: To explore the clinical and molecular genetic features of a Chinese patient with catecholaminergic polymorphic ventricular tachycardia (CPVT). Methods: Clinical data including resting electrocardiography, echocardiography and treadmill exercise testing of a patient with CPVT admitted to our department in March 2013 were analyzed, and the peripheral venous blood samples of the patient and his family members and 400 ethnicity-matched healthy controls were obtained. All exons and exon-intron boundaries of the six CPVT-related genes including RYR2, CASQ2, TRDN, CALM1, KCNJ2 and ANKB were sequenced to detect the variants related to CPVT...
January 25, 2017: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/28012210/elimination-of-ventricular-arrhythmia-in-catecholaminergic-polymorphic-ventricular-tachycardia-by-targeting-catecholamine-sensitive-area-a-dominant-subordinate-relationship-between-origin-sites-of-bidirectional-ventricular-premature-contractions
#16
Yasuhiro Shirai, Masahiko Goya, Seiko Ohno, Minoru Horie, Shozaburo Doi, Mitsuaki Isobe, Kenzo Hirao
We report on a patient diagnosed with catechoaminergic polymorphic ventricular tachycardia (CPVT) who underwent catheter ablation of ventricular premature contractions (VPCs) induced by epinephrine. VPCs were classified roughly into three types. Type 1 and Type 2 VPCs (right bundle branch block [RBBB] configuration and inferior axis) were eliminated by radiofrequency applications at the left aortic sinus of Valsalva and the anterolateral papillary muscle (APM), respectively. Although no spontaneous VPCs were seen after the elimination of Type 1 and 2 VPCs, pacing resulting in capture at the APM induced Type 3 VPC (RBBB configuration and superior axis) reproducibly...
May 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28012188/video-assisted-thoracoscopic-left-cardiac-sympathetic-denervation-in-patients-with-hereditary-ventricular-arrhythmias
#17
Se Yong Jang, Yongkeun Cho, Nam Kyun Kim, Chang-Yeon Kim, Jihyun Sohn, Jae-Hyung Roh, Myung Hwan Bae, Jang Hoon Lee, Dong Heon Yang, Hun Sik Park, Shung Chull Chae, Tak-Hyuk Oh, Gun Jik Kim
BACKGROUND: Left cardiac sympathetic denervation (LCSD) has been underutilized in patients with hereditary ventricular arrhythmia syndromes such as congenital long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). The purpose of this study was to investigate the safety and efficacy of video-assisted thoracoscopic (VATS) LCSD in such patients. METHODS: Fifteen patients (four men, 24.6 ± 10.5 years old) who underwent VATS-LCSD between November 2010 and January 2015 for hereditary ventricular arrhythmia syndromes at Kyungpook National University Hospital were enrolled in this study...
March 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/27909533/patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes-for-drug-development-and-screening-in-catecholaminergic-polymorphic-ventricular-tachycardia
#18
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
#19
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
#20
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 2016: EMBO Molecular Medicine
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