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https://www.readbyqxmd.com/read/29766267/-syncopes-and-channelopathies
#1
REVIEW
Johanna Müller-Leisse, Christos Zormpas, Thorben König, David Duncker, Christian Veltmann
Syncope can be the first manifestation of cardiac channelopathies, namely Brugada syndrome, long QT syndrome, short QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). Patients affected by these rare diseases are at increased risk for sudden cardiac death due to ventricular tachyarrhythmias and require specific therapy and follow-up. As syncope is common in the general population, only few cases are caused by an underlying channelopathy. Nevertheless, the diagnosis should be considered in young patients with structurally normal hearts, especially if the history of syncope is typical for an arrhythmogenic cause, in the presence of characteristic echocardiogram (ECG) patterns, and if there is a family history of channelopathies or sudden cardiac death...
May 15, 2018: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/29760739/antiarrhythmic-effects-of-carvedilol-and-flecainide-in-cardiomyocytes-derived-from-catecholaminergic-polymorphic-ventricular-tachycardia-patients
#2
R P Pölönen, K Penttinen, H Swan, K Aalto-Setälä
Mutations in the cardiac ryanodine receptor (RYR2) are the leading cause for catecholaminergic polymorphic ventricular tachycardia (CPVT). In this study, we evaluated antiarrhythmic efficacy of carvedilol and flecainide in CPVT patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) carrying different mutations in RYR2. iPSC-CMs were generated from skin biopsies of CPVT patients carrying exon 3 deletion and L4115 or V4653F mutation in RYR2 and of a healthy individual. Ca2+ kinetics and drug effects were studied with Fluo-4 AM indicator...
2018: Stem Cells International
https://www.readbyqxmd.com/read/29759629/circadian-variation-of-ventricular-arrhythmias-in-catecholaminergic-polymorphic-ventricular-tachycardia
#3
Christina Y Miyake, S Yukiko Asaki, Gregory Webster, Richard J Czosek, Joseph Atallah, Kishor Avasarala, Sri O Rao, Patricia E Thomas, Jeffrey J Kim, Santiago O Valdes, Caridad de la Uz, Yunfei Wang, Xander H T Wehrens, Dominic Abrams
OBJECTIVES: The aim of this paper was to investigate whether ventricular arrhythmias in children with catecholaminergic polymorphic ventricular tachycardia (CPVT) show circadian patterns. BACKGROUND: Circadian arrhythmic patterns have been established in long QT, Brugada, and early repolarization, but have not been investigated in CPVT. METHODS: This is a multicenter, retrospective review of pediatric CPVT patients, age <21 years at diagnosis...
November 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29720499/gene-transfer-of-engineered-calmodulin-alleviates-ventricular-arrhythmias-in-a-calsequestrin-associated-mouse-model-of-catecholaminergic-polymorphic-ventricular-tachycardia
#4
Bin Liu, Shane D Walton, Hsiang-Ting Ho, Andriy E Belevych, Svetlana B Tikunova, Ingrid Bonilla, Vikram Shettigar, Bjorn C Knollmann, Silvia G Priori, Pompeo Volpe, Przemysław B Radwański, Jonathan P Davis, Sándor Györke
BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic syndrome characterized by sudden death. There are several genetic forms of CPVT associated with mutations in genes encoding the cardiac ryanodine receptor (RyR2) and its auxiliary proteins including calsequestrin (CASQ2) and calmodulin (CaM). It has been suggested that impairment of the ability of RyR2 to stay closed (ie, refractory) during diastole may be a common mechanism for these diseases...
May 2, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29718542/high-efficiency-pbs-quantum-dot-solar-cells-with-greatly-simplified-fabrication-processing-via-solvent-curing
#5
Kunyuan Lu, Yongjie Wang, Zeke Liu, Lu Han, Guozheng Shi, Honghua Fang, Jun Chen, Xingchen Ye, Si Chen, Fan Yang, Artem G Shulga, Tian Wu, Mengfan Gu, Sijie Zhou, Jian Fan, Maria Antonietta Loi, Wanli Ma
PbS quantum-dot (QD) solar cells are promising candidates for low-cost solution-processed photovoltaics. However, the device fabrication usually requires ten more times film deposition and rinsing steps, which is not ideal for scalable manufacturing. Here, a greatly simplified deposition processing is demonstrated by replacing methanol with acetonitrile (ACN) as the rinsing solvent. It is discovered that ACN can effectively "cure" the film cracks generated from the volume loss during the solid-state ligand-exchange process, which enables the deposition of thick and dense films with much fewer deposition steps...
May 2, 2018: Advanced Materials
https://www.readbyqxmd.com/read/29704693/cardiac-arrest-during-spine-surgery-in-the-prone-position-case-report-and-review-of-the-literature
#6
REVIEW
Victor E Staartjes, Shiva A Schillevoort, Patricia G Blum, J Peter van Tintelen, Wouter E Kok, Marc L Schröder
OBJECTIVE: Intraoperative cardiac arrest (CA) is usually attributable to pre-existing disease, or to intraoperative complications. In rare cases, intraoperative stress can demask certain genetic diseases, such as Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). It is essential that neurosurgeons are aware of the etiologies, risk factors, and initial management of CA during surgery in the prone position. METHODS: We present a case of CA directly after spinal fusion for lumbar spondylolisthesis, and review the literature on cardiac arrests during spinal neurosurgery in the prone position...
April 26, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29668588/a-delayed-diagnosis-of-catecholaminergic-polymorphic-ventricular-tachycardia-with-a-mutant-of-ryr2-at-c-7580t-g-for-6-years-in-a-9-year-old-child
#7
Hongyu Duan, Yongyi Lu, Song Yan, Lina Qiao, Yimin Hua, Yifei Li, Kaiyu Zhou, Chuan Wang
RATIONALE: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal inherited arrhythmia syndrome induced by adrenergic stress. Due to the atypical clinical manifestations in early age, limited recognition and experience of pediatric cardiologists, and low awareness of the significance of genetic diagnosis in some underdeveloped areas in China, a delayed or missed diagnosis of CPVT in children is common and concerning. PATIENT CONCERNS: A 9-year and 3-month male child with recurrent exercise-induced syncope accompanied by convulsion was initially misdiagnosed as epilepsy since the first manifestation at the age of 3 years...
April 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29610596/catecholaminergic-polymorphic-ventricular-tachycardia-looking-to-the-future
#8
Andreea Elena Velcea, Calin Siliste, Dragos Vinereanu
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inheritable cardiac disorder, characterized by polymorphic ventricular tachycardia (PVT) or bidirectional ventricular tachycardia, triggered by adrenergic stress, and manifested most frequently as syncope or sudden cardiac death. The disease has a heterogeneous genetic basis, with mutations in the genes encoding the ryanodine and calsequestrin channels accounting for the majority of cases. The diagnosis of CPVT is established in individuals with polymorphic ventricular premature beats, PVT or bidirectional ventricular tachycardia documented during exercise or adrenergic stress, who have a structurally normal heart and normal resting ECG...
December 2017: Mædica
https://www.readbyqxmd.com/read/29477366/pathogenic-mechanism-of-a-catecholaminergic-polymorphic-ventricular-tachycardia-causing-mutation-in-cardiac-calcium-release-channel-ryr2
#9
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...
April 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29452352/conditional-ablation-and-conditional-rescue-models-for-casq2-elucidate-the-role-of-development-and-of-cell-type-specific-expression-of-casq2-in-the-cpvt2-phenotype
#10
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...
May 1, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29434162/bradycardia-is-a-specific-phenotype-of-catecholaminergic-polymorphic-ventricular-tachycardia-induced-by-ryr2-mutations
#11
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
https://www.readbyqxmd.com/read/29429799/accelerated-idioventricular-rhythm-degenerating-into-bidirectional-ventricular-tachycardia-following-acute-myocardial-infarction
#12
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...
April 2018: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29427818/mutation-linked-excessively-tight-interaction-between-the-calmodulin-binding-domain-and-the-c-terminal-domain-of-the-cardiac-ryanodine-receptor-as-a-novel-cause-of-catecholaminergic-polymorphic-ventricular-tachycardia
#13
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), an important inherited disease. Some of the human CPVT-associated mutations have been found in a domain (4026-4172) that has EF hand motifs, the so-called calmodulin (CaM)-like domain (CaMLD). OBJECTIVE: The purpose of this study was to investigate the underlying mechanism by which CPVT is induced by a mutation at CaMLD. METHODS: A new N4103K/+ knock-in (KI) mice model was generated...
February 7, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29354781/suppression-of-arrhythmia-by-enhancing-mitochondrial-ca-2-uptake-in-catecholaminergic-ventricular-tachycardia-models
#14
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
https://www.readbyqxmd.com/read/29309601/different-responses-to-exercise-between-andersen-tawil-syndrome-and-catecholaminergic-polymorphic-ventricular-tachycardia
#15
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
#16
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
#17
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 calcium cation (Ca2+ ) leak from the sarcoplasmic reticulum (SR). Calmodulin (CaM) dissociation from RyR2 has been associated with diastolic Ca2+ leak in heart failure. OBJECTIVE: Determine whether the tetracaine-derivative compound EL20 inhibits abnormal Ca2+ release from RyR2 in a CPVT model and investigate the underlying mechanism of inhibition...
April 2018: 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
#18
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
#19
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
#20
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
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