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https://www.readbyqxmd.com/read/28219898/sk4-k-channels-are-therapeutic-targets-for-the-treatment-of-cardiac-arrhythmias
#1
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...
February 20, 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
#2
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
#3
Yasuhiro Shirai, Masahiko Goya, Seiko Ohno, Minoru Horie, Shozaburo Doi, Mitsuaki Isobe, Kenzo Hirao
We report on a patient diagnosed with CPVT who underwent catheter ablation of VPCs induced by epinephrine. VPCs were classified roughly into 3 types. Type 1 and Type 2 VPCs (RBBB configuration and inferior axis) were eliminated by radio frequency 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...
December 24, 2016: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28012188/video-assisted-thoracoscopic-left-cardiac-sympathetic-denervation-in-patients-with-hereditary-ventricular-arrhythmias
#4
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 (4 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...
December 24, 2016: 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
#5
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
#6
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
#7
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
#8
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...
December 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
#9
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/27761159/molecular-autopsy-in-victims-of-inherited-arrhythmias
#10
REVIEW
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
#11
REVIEW
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
#12
REVIEW
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
#13
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
#14
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
#15
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/27646203/a-novel-ryr2-loss-of-function-mutation-i4855m-is-associated-with-left-ventricular-non-compaction-and-atypical-catecholaminergic-polymorphic-ventricular-tachycardia
#16
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/27626620/the-emerging-role-of-calmodulin-regulation-of-ryr2-in-controlling-heart-rhythm-the-progression-of-heart-failure-and-the-antiarrhythmic-action-of-dantrolene
#17
Kafa Walweel, Ye Win Oo, Derek R Laver
Cardiac output and rhythm depend on the release and the take-up of calcium from the sarcoplasmic reticulum (SR). Excessive diastolic calcium leak from the SR due to dysfunctional calcium release channels (RyR2) contributes to the formation of delayed after-depolarizations, which underlie the fatal arrhythmias that occur in heart failure and inherited syndromes. Calmodulin (CaM) is a calcium-binding protein that regulates target proteins and acts as a calcium sensor. CaM is comprised of two calcium-binding EF-hand domains and a flexible linker...
January 2017: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/27623776/nebivolol-suppresses-cardiac-ryanodine-receptor-mediated-spontaneous-ca2-release-and-catecholaminergic-polymorphic-ventricular-tachycardia
#18
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/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/27538377/integration-of-60-000-exomes-and-acmg-guidelines-question-the-role-of-catecholaminergic-polymorphic-ventricular-tachycardia-associated-variants
#20
C Paludan-Müller, G Ahlberg, J Ghouse, C Herfelt, J H Svendsen, S Haunsø, J K Kanters, M S Olesen
Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a highly lethal cardiac arrhythmia disease occurring during exercise or psychological stress. CPVT has an estimated prevalence of 1:10,000 and has mainly been associated with variants in calcium-regulating genes. Identification of potential false-positive pathogenic variants was conducted by searching the Exome Aggregation Consortium (ExAC) database (n = 60,706) for variants reported to be associated with CPVT. The pathogenicity of the interrogated variants was assessed using guidelines from the American College of Medical Genetics and Genomics (ACMG) and in silico prediction tools...
January 2017: Clinical Genetics
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