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Arrhythmogenic cardiomyopathy

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https://www.readbyqxmd.com/read/28087747/zurich-international-symposium-on-arrhythmogenic-right-ventricular-cardiomyopathies
#1
Firat Duru, Corinna Brunckhorst
No abstract text is available yet for this article.
December 21, 2016: European Heart Journal
https://www.readbyqxmd.com/read/28076798/neonatal-transplantation-confers-maturation-of-psc-derived-cardiomyocytes-conducive-to-modeling-cardiomyopathy
#2
Gun-Sik Cho, Dong I Lee, Emmanouil Tampakakis, Sean Murphy, Peter Andersen, Hideki Uosaki, Stephen Chelko, Khalid Chakir, Ingie Hong, Kinya Seo, Huei-Sheng Vincent Chen, Xiongwen Chen, Cristina Basso, Steven R Houser, Gordon F Tomaselli, Brian O'Rourke, Daniel P Judge, David A Kass, Chulan Kwon
Pluripotent stem cells (PSCs) offer unprecedented opportunities for disease modeling and personalized medicine. However, PSC-derived cells exhibit fetal-like characteristics and remain immature in a dish. This has emerged as a major obstacle for their application for late-onset diseases. We previously showed that there is a neonatal arrest of long-term cultured PSC-derived cardiomyocytes (PSC-CMs). Here, we demonstrate that PSC-CMs mature into adult CMs when transplanted into neonatal hearts. PSC-CMs became similar to adult CMs in morphology, structure, and function within a month of transplantation into rats...
January 10, 2017: Cell Reports
https://www.readbyqxmd.com/read/28069705/multilevel-analyses-of-scn5a-mutations-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-suggest-non-canonical-mechanisms-for-disease-pathogenesis
#3
Anneline S J M Te Riele, Esperanza Agullo-Pascual, Cynthia A James, Alejandra Leo-Macias, Marina Cerrone, Mingliang Zhang, Xianming Lin, Bin Lin, Nara L Sobreira, Nuria Amat-Alarcon, Roos F Marsman, Brittney Murray, Crystal Tichnell, Jeroen F van der Heijden, Dennis Dooijes, Toon A B van Veen, Harikrishna Tandri, Steven J Fowler, Richard N W Hauer, Gordon Tomaselli, Maarten P van den Berg, Matthew R G Taylor, Francesca Brun, Gianfranco Sinagra, Arthur A M Wilde, Luisa Mestroni, Connie R Bezzina, Hugh Calkins, J Peter van Tintelen, Lei Bu, Mario Delmar, Daniel P Judge
AIMS: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Nav1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Nav1.5) in ARVD/C. METHODS AND RESULTS: We performed whole-exome sequencing in six ARVD/C patients (33% male, 38.2 ± 12.1 years) without a desmosomal mutation...
January 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28069669/refining-the-molecular-organization-of-the-cardiac-intercalated-disc
#4
REVIEW
Sarah H Vermij, Hugues Abriel, Toon A B van Veen
This review presents an extensively integrated model of the cardiac intercalated disc (ID), a highly orchestrated structure that connects adjacent cardiomyocytes. Classically, three main structures are distinguished: gap junctions (GJs) metabolically and electrically connect cytoplasm of adjacent cardiomyocytes; adherens junctions (AJs) connect the actin cytoskeleton of adjacent cells; and desmosomes function as cell anchors and connect intermediate filaments. Furthermore, ion channels reside in the ID. Mutations in ID proteins have been associated with cardiac arrhythmias such as Brugada syndrome and arrhythmogenic cardiomyopathy...
January 8, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28069601/comprehensive-multi-modality-imaging-approach-in-arrhythmogenic-cardiomyopathy-an-expert-consensus-document-of-the-european-association-of-cardiovascular-imaging
#5
Kristina H Haugaa, Cristina Basso, Luigi P Badano, Chiara Bucciarelli-Ducci, Nuno Cardim, Oliver Gaemperli, Maurizio Galderisi, Gilbert Habib, Juhani Knuuti, Patrizio Lancellotti, William McKenna, Danilo Neglia, Bogdan A Popescu, Thor Edvardsen
Arrhythmogenic cardiomyopathy (AC) is a progressive disease with high risk of life-threatening ventricular arrhythmias. A genetic mutation is found in up to 50-60% of probands, mostly affecting desmosomal genes. Diagnosis of AC is made by a combination of data from different modalities including imaging, electrocardiogram, Holter monitoring, family history, genetic testing, and tissue properties. Being a progressive cardiomyopathy, repeated cardiac imaging is needed in AC patients. Repeated imaging is important also for risk assessment of ventricular arrhythmias...
January 9, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28067540/soluble-st2-is-associated-with-disease-severity-in-arrhythmogenic-right-ventricular-cardiomyopathy
#6
Kaspar Broch, Ida S Leren, Jørg Saberniak, Thor Ueland, Thor Edvardsen, Lars Gullestad, Kristina H Haugaa
PURPOSE: Diagnostic and prognostic evaluation remains challenging in arrhythmogenic right ventricular cardiomyopathy (ARVC). We measured plasma concentration of soluble ST2 (sST2) and assessed its association with right ventricular (RV) function and ventricular arrhythmias in patients with ARVC. METHODS: We included patients with ARVC and genotype positive relatives. Soluble ST2 was determined by ELISA. We assessed myocardial function by echocardiography including strain by speckle tracking technique...
January 9, 2017: Biomarkers: Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals
https://www.readbyqxmd.com/read/28064433/magnetic-vt-study-a-prospective-multicenter-post-market-randomized-controlled-trial-comparing-vt-ablation-outcomes-using-remote-magnetic-navigation-guided-substrate-mapping-and-ablation-versus-manual-approach-in-a-low-lvef-population
#7
Luigi Di Biase, Roderick Tung, Tamás Szili-Torok, J David Burkhardt, Peter Weiss, Rene Tavernier, Adam E Berman, Erik Wissner, William Spear, Xu Chen, Petr Neužil, Jan Skoda, Dhanunjaya Lakkireddy, Bruno Schwagten, Ken Lock, Andrea Natale
PURPOSE: Patients with ischemic cardiomyopathy (ICM) are prone to scar-related ventricular tachycardia (VT). The success of VT ablation depends on accurate arrhythmogenic substrate localization, followed by optimal delivery of energy provided by constant electrode-tissue contact. Current manual and remote magnetic navigation (RMN)-guided ablation strategies aim to identify a reentry circuit and to target a critical isthmus through activation and entrainment mapping during ongoing tachycardia...
January 7, 2017: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/28057231/anterior-t-wave-inversion-in-young-white%C3%A2-athletes-and-nonathletes-prevalence-and-significance
#8
Aneil Malhotra, Harshil Dhutia, Sabiha Gati, Tee-Joo Yeo, Helder Dores, Rachel Bastiaenen, Rajay Narain, Ahmed Merghani, Gherardo Finocchiaro, Nabeel Sheikh, Alexandros Steriotis, Abbas Zaidi, Lynne Millar, Elijah Behr, Maite Tome, Michael Papadakis, Sanjay Sharma
BACKGROUND: Anterior T-wave inversion (ATWI) on electrocardiography (ECG) in young white adults raises the possibility of cardiomyopathy, specifically arrhythmogenic right ventricular cardiomyopathy (ARVC). Whereas the 2010 European consensus recommendations for ECG interpretation in young athletes state that ATWI beyond lead V1 warrants further investigation, the prevalence and significance of ATWI have never been reported in a large population of asymptomatic whites. OBJECTIVES: This study investigated the prevalence and significance of ATWI in a large cohort of young, white adults including athletes...
January 3, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28052233/arrhythmogenic-right-ventricular-cardiomyopathy
#9
Domenico Corrado, Mark S Link, Hugh Calkins
No abstract text is available yet for this article.
January 5, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28040191/left-ventricular-function-in-children-and-adolescents-with-arrhythmogenic-right-ventricular-cardiomyopathy
#10
Paweena Chungsomprasong, Robert Hamilton, Wietske Luining, Meena Fatah, Shi-Joon Yoo, Lars Grosse-Wortmann
The aim of this study was to determine if left ventricular (LV) contractility is reduced in children with arrhythmogenic right ventricular cardiomyopathy (ARVC). For this retrospective study, children and adolescents undergoing a workup for ARVC were characterized according to the revised Task Force Criteria (rTFC). LV strain, rotation, and torsion were measured by feature-tracking cardiovascular magnetic resonance imaging (CMR). Of 142 pediatric patients, 41% had no, 23% possible, 20% borderline, and 16% definite ARVC...
December 2, 2016: American Journal of Cardiology
https://www.readbyqxmd.com/read/28017936/catheter-ablation-reduces-ventricular-tachycardia-burden-in-patients-with-arrhythmogenic-right-ventricular-cardiomyopathy-insights-from-a-north-western-french-multicentre-registry
#11
Zouheir Souissi, Stéphane Boulé, Jean-Sylvain Hermida, Alexandre Doucy, Philippe Mabo, Dominique Pavin, Frédéric Anselme, Nathanaël Auquier, Sandro Ninni, Augustin Coisne, François Brigadeau, Valérie Deken-Delannoy, Didier Klug, Dominique Lacroix
AIMS: Studies assessing radiofrequency ablation (RFA) of ventricular tachycardia (VT) in arrhythmogenic right ventricular cardiomyopathy (ARVC) report VT recurrences, but have not evaluated the impact of RFA on relevant clinical events during follow-up. We aimed to investigate relevant RFA outcomes in a multicentric registry. METHODS AND RESULTS: This study included 49 patients with ARVC (46 with definite diagnosis, 3 with borderline diagnosis according to revised Task Force Criteria) who underwent 92 RFA procedures (83 endocardial, 9 combined endo-epicardial) between 1999-2015...
December 25, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28012557/exercise-testing-for-long-term-follow-up-in-arrhythmogenic-right-ventricular-cardiomyopathy
#12
Daniel Karlsson, Jan Engvall, Agota Alfoldine Ando, Meriam Åström Aneq
OBJECTIVES: We investigated arrhythmia, electrocardiography and physical work capacity (PWC) in the follow-up of ARVC. DESIGN: Twenty-three patients (13 men; age 41±12years) fulfilling diagnostic criteria were re-investigated after at least five years. RESULTS: Ventricular arrhythmia during exercise testing (ET) was present in 14 patients (61%) and showed variation between examinations. In eleven (48%), complex ventricular ectopic activity was observed at peak exercise or immediately thereafter...
October 28, 2016: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28008423/flnc-gene-splice-mutations-cause-dilated-cardiomyopathy
#13
Rene L Begay, Charles A Tharp, August Martin, Sharon L Graw, Gianfranco Sinagra, Daniela Miani, Mary E Sweet, Dobromir B Slavov, Neil Stafford, Molly J Zeller, Rasha Alnefaie, Teisha J Rowland, Francesca Brun, Kenneth L Jones, Katherine Gowan, Luisa Mestroni, Deborah M Garrity, Matthew R G Taylor
OBJECTIVE: To identify novel dilated cardiomyopathy (DCM) causing genes, and to elucidate the pathological mechanism leading to DCM by utilizing zebrafish as a model organism. BACKGROUND: DCM, a major cause of heart failure, is frequently familial and caused by a genetic defect. However, only 50% of DCM cases can be attributed to a known DCM gene variant, motivating the ongoing search for novel disease genes. METHODS: We performed whole exome sequencing (WES) in two multigenerational Italian families and one US family with arrhythmogenic DCM without skeletal muscle defects, in whom prior genetic testing had been unrevealing...
August 2016: JACC. Basic to Translational Science
https://www.readbyqxmd.com/read/28007147/clinical-and-mechanistic-insights-into-the%C3%A2-genetics-of-cardiomyopathy
#14
REVIEW
Michael A Burke, Stuart A Cook, Jonathan G Seidman, Christine E Seidman
Over the last quarter-century, there has been tremendous progress in genetics research that has defined molecular causes for cardiomyopathies. More than a thousand mutations have been identified in many genes with varying ontologies, therein indicating the diverse molecules and pathways that cause hypertrophic, dilated, restrictive, and arrhythmogenic cardiomyopathies. Translation of this research to the clinic via genetic testing can precisely group affected patients according to molecular etiology, and identify individuals without evidence of disease who are at high risk for developing cardiomyopathy...
December 27, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27939893/use-of-flecainide-in-combination-antiarrhythmic-therapy-in-patients-with-arrhythmogenic-right-ventricular-cardiomyopathy
#15
Simon Ermakov, Edward P Gerstenfeld, Yana Svetlichnaya, Melvin M Scheinman
BACKGROUND: Antiarrhythmic therapy is commonly used for suppression of arrhythmias in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) in conjunction with implantable cardioverter-defibrillators and catheter ablation. The efficacy of combination flecainide and sotalol/metoprolol therapy for patients refractory to single agents and/or catheter ablation has not been well established. OBJECTIVE: The purpose of this study was to describe our experience with the addition of flecainide in combination with sotalol/metoprolol for treatment of arrhythmias in patients with ARVC...
December 9, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27932238/gender-differences-in-patients-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-clinical-manifestations-electrophysiological-properties-substrate-characteristics-and-prognosis-of-radiofrequency-catheter-ablation
#16
Chin-Yu Lin, Fa-Po Chung, Yenn-Jiang Lin, Shih-Lin Chang, Li-Wei Lo, Yu-Feng Hu, Ta-Chuan Tuan, Tze-Fan Chao, Jo-Nan Liao, Yao-Ting Chang, Yun-Yu Chen, Rohit Walia, Abigail Louise D Te, Shinya Yamada, Shih-Ann Chen
BACKGROUND: Gender differences in the penetrance and clinical expression of genetic mutations have been reported in patients with arrhythmogenic right ventricular (RV) dysplasia/cardiomyopathy (ARVD/C). Our study aimed at clarifying the impact of gender on ventricular substrates and clinical outcomes after radiofrequency catheter ablation (RFCA). METHODS: Patients with ARVD/C underwent RFCA for drug-refractory ventricular arrhythmias (VAs) were consecutively enrolled...
January 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27931612/further-progress-in-predicting-life-threatening-arrhythmias-in-patients%C3%A2-with-arrhythmogenic-right%C3%A2-ventricular-cardiomyopathy
#17
EDITORIAL
Cynthia A James, Hugh Calkins
No abstract text is available yet for this article.
December 13, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27931611/arrhythmogenic-right-ventricular-cardiomyopathy-clinical-course-and-predictors-of-arrhythmic-risk
#18
Andrea Mazzanti, Kevin Ng, Alessandro Faragli, Riccardo Maragna, Elena Chiodaroli, Nicoletta Orphanou, Nicola Monteforte, Mirella Memmi, Patrick Gambelli, Valeria Novelli, Raffaella Bloise, Oronzo Catalano, Guido Moro, Valentina Tibollo, Massimo Morini, Riccardo Bellazzi, Carlo Napolitano, Vincenzo Bagnardi, Silvia G Priori
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a leading cause of sudden cardiac death, but its progression over time and predictors of arrhythmias are still being defined. OBJECTIVES: This study sought to describe the clinical course of ARVC and occurrence of life-threatening arrhythmic events (LAE) and cardiovascular mortality; identify risk factors associated with increased LAE risk; and define the response to therapy. METHODS: We determined the clinical course of 301 consecutive patients with ARVC using the Kaplan-Meier method adjusted to avoid the bias of delayed entry...
December 13, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27920450/catheter-ablation-for-ventricular-tachycardia-in-patients-with-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-a-systematic-review-and-meta-analysis
#19
H Jiang, X -L Zhang, Q -L Yang, S -H Zhu, H -S Yu, B Xu, W Huang
No abstract text is available yet for this article.
2016: Acta Cardiologica
https://www.readbyqxmd.com/read/27919765/late-gadolinium-enhancement-in-brugada-syndrome-a-marker-for-subtle-underlying-cardiomyopathy
#20
Rachel Bastiaenen, Andrew T Cox, Silvia Castelletti, Yanushi D Wijeyeratne, Nicholas Colbeck, Nadia Pakroo, Hammad Ahmed, Nick Bunce, Lisa Anderson, James C Moon, Sanjay Prasad, Sanjay Sharma, Elijah R Behr
BACKGROUND: There is increasing evidence that the Brugada ECG pattern is a marker of subtle structural heart disease. OBJECTIVE: We characterised Brugada syndrome (BrS) patients using cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE). METHODS: BrS was diagnosed according to international guidelines. 26% BrS patients carried SCN5A mutations. CMR data from 78 BrS patients were compared with 78 healthy controls (44±15 vs 42±14 years; p=0...
December 2, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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