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Jing Xiong, Xijun Liu, Yunyun Gong, Peng Zhang, Sujing Qiang, Qian Zhao, Rong Guo, Yunyun Qian, Lipeng Wang, Li Zhu, Ruiwu Wang, Zhiyuan Hao, Han Wen, Jingying Zhang, Kai Tang, Wang-Fu Zang, Zhiguang Yuchi, Haijun Chen, S R Wayne Chen, Wenjun Zheng, Shi-Qiang Wang, Ya-Wei Xu, Zheng Liu
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a condition that is characterized by an abnormal heart rhythm in response to physical or emotional stress. The majority CPVT patients carry mutations in the RYR2 gene that encodes the calcium release channel/ryanodine receptor (RyR2) in cardiomyocytes. The pathogenic mechanisms that account for the clinical phenotypes of CPVT are still elusive. We have identified a de novo mutation, A165D, from a CPVT patient. We found that CPVT phenotypes are recapitulated in A165D knock-in mice...
February 22, 2018: Journal of Molecular and Cellular Cardiology
Daniel J Flores, ThuyVy Duong, Luke O Brandenberger, Apratim Mitra, Aditya Shirali, John C Johnson, Danielle Springer, Audrey Noguchi, Zu-Xi Yu, Steven N Ebert, Andreas Ludwig, Bjorn C Knollmann, Mark D Levin, Karl Pfeifer
Cardiac calsequestrin (Casq2) associates with the Ryanodine Receptor 2 channel in the junctional sarcoplasmic reticulum to regulate Ca2+ release into the cytoplasm. Patients carrying mutations in CASQ2 display low resting heart rates under basal conditions and stress-induced polymorphic ventricular tachycardia (CPVT). In this study we generate and characterize novel conditional deletion and conditional rescue mouse models to test the influence of developmental programs on the heart rate and CPVT phenotypes...
February 14, 2018: Human Molecular Genetics
Kazuaki Miyata, Seiko Ohno, Hideki Itoh, Minoru Horie
Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal inherited disease characterized by ventricular arrhythmias induced by physical exercise or emotional stress. The major cause of CPVT is mutations in RYR2, which encodes the cardiac ryanodine receptor channel. Recent advances in sequencing technology have yielded incidental findings of RYR2 variants in other cardiac diseases. Analyzing the characteristics of RYR2 variants related to CPVT will be useful for differentiation from those related to other cardiac diseases...
February 9, 2018: Internal Medicine
Yun-Tao Zhao, Hang Zhou, Yumin Cui
Bidirectional ventricular tachycardia (BVT) is a rare ventricular tachyarrhythmia. It is usually regular, demonstrating a beat-to-beat alternation in the QRS frontal axis that varies between -20° to -30° and +110°. The tachycardia rate is typically between 140 and 180 beats/min and the QRS is relatively narrow, with a duration of 120 to 150 ms. The etiology of published BVT cases is most commonly digitalis toxicity and, rarely, herbal aconitine poisoning, hypokalemic periodic paralysis, catecholaminergic polymorphic ventricular tachycardia (CPVT), myocarditis, and Andersen-Tawil syndrome...
January 8, 2018: American Journal of Emergency Medicine
Shigehiko Nishimura, Takeshi Yamamoto, Yoshihide Nakamura, Michiaki Kohno, Yoriomi Hamada, Yoko Sufu, Go Fukui, Takuma Nanno, Hironori Ishiguchi, Takayoshi Kato, Xiaojuan Xu, Makoto Ono, Tetsuro Oda, Shinichi Okuda, Shigeki Kobayashi, Masafumi Yano
BACKGROUND: Ryanodine receptor (RyR2) is known to be a causal gene of catecholaminergic polymorphic ventricular tachycardia (CPVT) as an important inherited disease. Some of the human CPVT-associated mutations were found in a domain (4026-4172), which has EF hand motifs; so-called calmodulin (CaM)-like domain (CaMLD). OBJECTIVE: To investigate the underlying mechanism by which CPVT is induced with mutation at CaMLD. METHODS: We newly generated N4103K/+ knock-in (KI) mice model...
February 7, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Maria K Schweitzer, Fabiola Wilting, Simon Sedej, Lisa Dreizehnter, Nathan J Dupper, Qinghai Tian, Alessandra Moretti, Ilaria My, Ohyun Kwon, Silvia G Priori, Karl-Ludwig Laugwitz, Ursula Storch, Peter Lipp, Andreas Breit, Michael Mederos Y Schnitzler, Thomas Gudermann, Johann Schredelseker
Cardiovascular disease-related deaths frequently arise from arrhythmias, but treatment options are limited due to perilous side effects of commonly used antiarrhythmic drugs. Cardiac rhythmicity strongly depends on cardiomyocyte Ca2+ handling and prevalent cardiac diseases are causally associated with perturbations in intracellular Ca2+ handling. Therefore, intracellular Ca2+ transporters are lead candidate structures for novel and safer antiarrhythmic therapies. Mitochondria and mitochondrial Ca2+ transport proteins are important regulators of cardiac Ca2+ handling...
December 2017: JACC. Basic to Translational Science
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
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
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
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
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
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
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) Ca2+ 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
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
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
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
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
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
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
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
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