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https://www.readbyqxmd.com/read/28534967/whole%C3%A2-exome-sequencing-identifies-a-novel-mutation-r367g-in-scn5a-to-be-associated-with-familial-cardiac-conduction-disease
#1
Rong Yu, Xue-Feng Fan, Chan Chen, Zheng-Hua Liu
Cardiac conduction disease is a primary cause of sudden cardiac death. Sodium voltage‑gated channel‑α subunit 5 (SCN5A) mutations have been reported to underlie a variety of inherited arrhythmias. Numerous disease‑causing mutations of SCN5A have been identified in patients with ≥10 different conditions, including type 3 long‑QT syndrome and Brugada syndrome. The present study investigated a family with a history of arrhythmia, with the proband having a history of arrhythmia and syncope. Whole‑exome sequencing was applied in order to detect the disease‑causing mutation in this family, and Sanger sequencing was used to confirm the co‑segregation among the family members...
May 17, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28534204/-ventricular-arrhythmias-in-ion-channel-diseases
#2
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/28532773/comparison-of-the-incidences-of-complications-after-second-generation-cryoballoon-ablation-of-atrial-fibrillation-using-vitamin-k-antagonists-versus-novel-oral-anticoagulants
#3
Giacomo Mugnai, Carlo de Asmundis, Saverio Iacopino, Erwin Stroker, Massimo Longobardi, Valentina De Regibus, Hugo Enrique Coutino-Moreno, Ken Takarada, Rajin Choudhury, Juan Pablo Abugattas de Torres, Cesare Storti, Pedro Brugada, Gian-Battista Chierchia
Data evaluating the impact of the periprocedural administration of novel oral anticoagulants (NOACs) on complications in the setting of pulmonary vein (PV) isolation using cryoballoon (CB) is limited. In the present study, our aim was to analyze procedural characteristics and incidence of complications in those patients who underwent CB ablation for atrial fibrillation and the impact of NOACs on adverse events compared with vitamin K antagonists (VKAs). Consecutive patients with drug resistant atrial fibrillation who underwent PV isolation by CB as index procedure were retrospectively included in our analysis...
April 27, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28528724/twelve-lead-ambulatory-electrocardiographic-monitoring-in-brugada-syndrome-potential-diagnostic-and-prognostic-implications
#4
Belinda Gray, Adrienne Kirby, Peter Kabunga, Saul B Freedman, Laura Yeates, Ajita Kanthan, Caroline Medi, Anthony Keech, Christopher Semsarian, Raymond W Sy
BACKGROUND: Patients with Brugada syndrome (BrS) are diagnosed and risk stratified on the basis of a spontaneous or drug-induced type 1 electrocardiographic (ECG) pattern, often at single time points not accounting for variation throughout the day. OBJECTIVES: The purpose of this study was to prospectively assess the overall burden of type 1 Brugada ECG changes using 12-lead 24-hour Holter monitoring and evaluate association with cardiac events. METHODS: From July 1, 2013 to December 31, 2015, patients with BrS were recruited from 3 Australian centers and the Australian Genetic Heart Disease Registry...
June 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28527921/drug-induced-fatal-arrhythmias-acquired-long-qt-and-brugada-syndromes
#5
REVIEW
Isik Turker, Tomohiko Ai, Hideki Itoh, Minoru Horie
Since the early 1990s, the concept of primary "inherited" arrhythmia syndromes or ion channelopathies has evolved rapidly as a result of revolutionary progresses made in molecular genetics. Alterations in genes coding for membrane proteins such as ion channels or their associated proteins responsible for the generation of cardiac action potentials (AP) have been shown to cause specific malfunctions which eventually lead to cardiac arrhythmias. These arrhythmic disorders include congenital long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, short QT syndrome, progressive cardiac conduction disease, etc...
May 17, 2017: Pharmacology & Therapeutics
https://www.readbyqxmd.com/read/28523371/impact-of-electrocardiogram-screening-during-drug-challenge-test-for-the-prediction-of-t-wave-oversensing-by-a-subcutaneous-implantable-cardioverter-defibrillator-in-patients-with-brugada-syndrome
#6
Tsukasa Kamakura, Mitsuru Wada, Kohei Ishibashi, Yuko Y Inoue, Koji Miyamoto, Hideo Okamura, Satoshi Nagase, Takashi Noda, Takeshi Aiba, Satoshi Yasuda, Kengo Kusano
Screening tests conducted at rest may be inadequate for the prediction of the T-wave oversensing (TWOS) in subcutaneous implantable cardioverter defibrillator (S-ICD) candidates with Brugada syndrome (BrS) because of the dynamic nature of electrocardiogram (ECG) morphology. We evaluated the utility of ECG screening during drug challenge (DC) for prediction of TWOS in BrS patients implanted with an S-ICD. The study enrolled 6 consecutive BrS patients implanted with an S-ICD. In addition to baseline ECG screening, pre-implant screening during DC using a sodium channel blocker was performed in all patients...
May 18, 2017: Heart and Vessels
https://www.readbyqxmd.com/read/28522305/the-girona-territori-cardioprotegit-project-performance-evaluation-of-public-defibrillators
#7
Pablo Loma-Osorio, Maria Nuñez, Jaime Aboal, Daniel Bosch, Pau Batlle, Ester Ruiz de Morales, Rafael Ramos, Josep Brugada, Hisao Onaga, Alex Morales, Josep Olivet, Ramon Brugada
INTRODUCTION AND OBJECTIVES: In recent years, public access defibrillation programs have exponentially increased the availability of automatic external defibrillators (AED) in public spaces but there are no data on their performance in our setting. We conducted a descriptive analysis of the performance of AED since the launch of a public defibrillation program in our region. METHODS: A retrospective analysis was conducted of electrocardiographic tracings and the performance of AED in a public defibrillation program from June 2011 to June 2015 in the province of Girona, Spain...
May 15, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28521022/management-of-untreatable-ventricular-arrhythmias-during-pharmacologic-challenges-with-sodium-channel-blockers-for-suspected-brugada-syndrome
#8
Stefano Poli, Mauro Toniolo, Massimo Maiani, Davide Zanuttini, Luca Rebellato, Igor Vendramin, Ermanno Dametto, Guglielmo Bernardi, Flavio Bassi, Carlo Napolitano, Ugolino Livi, Alessandro Proclemer
Pharmacologic challenge with sodium channel blockers is part of the diagnostic workout in patients with suspected Brugada syndrome. The test is overall considered safe but both ajmaline and flecainide detain well known pro-arrhythmic properties. Moreover, the treatment of patients with life-threatening arrhythmias during these diagnostic procedures is not well defined. Current consensus guidelines suggest to adopt cautious protocols interrupting the sodium channel blockers as soon as any ECG alteration appears...
May 17, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28506916/temporary-removal-2017-hrs-ehra-ecas-aphrs-solaece-expert-consensus-statement-on-catheter-and-surgical-ablation-of-atrial-fibrillation
#9
Hugh Calkins, Gerhard Hindricks, Riccardo Cappato, Young-Hoon Kim, Eduardo B Saad, Luis Aguinaga, Joseph G Akar, Vinay Badhwar, Josep Brugada, John Camm, Peng-Sheng Chen, Shih-Ann Chen, Mina K Chung, Jens Cosedis Nielsen, Anne B Curtis, D Wyn Davies, John D Day, André d'Avila, N M S Natasja de Groot, Luigi Di Biase, Mattias Duytschaever, James R Edgerton, Kenneth A Ellenbogen, Patrick T Ellinor, Sabine Ernst, Guilherme Fenelon, Edward P Gerstenfeld, David E Haines, Michel Haissaguerre, Robert H Helm, Elaine Hylek, Warren M Jackman, Jose Jalife, Jonathan M Kalman, Josef Kautzner, Hans Kottkamp, Karl Heinz Kuck, Koichiro Kumagai, Richard Lee, Thorsten Lewalter, Bruce D Lindsay, Laurent Macle, Moussa Mansour, Francis E Marchlinski, Gregory F Michaud, Hiroshi Nakagawa, Andrea Natale, Stanley Nattel, Ken Okumura, Douglas Packer, Evgeny Pokushalov, Matthew R Reynolds, Prashanthan Sanders, Mauricio Scanavacca, Richard Schilling, Claudio Tondo, Hsuan-Ming Tsao, Atul Verma, David J Wilber, Teiichi Yamane
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 https://www.elsevier.com/about/our-business/policies/article-withdrawal.
May 12, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28500178/electrical-substrate-elimination-in-135-consecutive-patients-with-brugada-syndrome
#10
Carlo Pappone, Josep Brugada, Gabriele Vicedomini, Giuseppe Ciconte, Francesco Manguso, Massimo Saviano, Raffaele Vitale, Amarild Cuko, Luigi Giannelli, Zarko Calovic, Manuel Conti, Paolo Pozzi, Andrea Natalizia, Simonetta Crisà, Valeria Borrelli, Ramon Brugada, Georgia Sarquella-Brugada, Marco Guazzi, Alessandro Frigiola, Lorenzo Menicanti, Vincenzo Santinelli
BACKGROUND: There is emerging evidence that localization and elimination of abnormal electric activity in the epicardial right ventricular outflow tract may be beneficial in patients with Brugada syndrome. METHODS AND RESULTS: A total of 135 symptomatic Brugada syndrome patients having implantable cardiac defibrillator were enrolled: 63 (group 1) having documented ventricular tachycardia (VT)/ventricular fibrillation (VF) and Brugada syndrome-related symptoms, and 72 (group 2) having inducible VT/VF without ECG documentation at the time of symptoms...
May 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28496938/brugada-syndrome-risk-stratification-and-management
#11
REVIEW
Yoshifusa Aizawa
The Brugada syndrome (BrS) is an arrhythmogenic disease associated with an increased risk of ventricular fibrillation and sudden cardiac death. The risk stratification and management of BrS patients, particularly of asymptomatic ones, still remains challenging. A previous history of aborted sudden cardiac death or arrhythmic syncope in the presence of spontaneous type 1 ECG pattern of BrS phenotype appear to be the most reliable predictors of future arrhythmic events. Several other ECG parameters have been proposed for risk stratification...
October 2016: Journal of Atrial Fibrillation
https://www.readbyqxmd.com/read/28494446/mutation-load-of-multiple-ion-channel-gene-mutations-in-brugada-syndrome
#12
Francesca Gualandi, Fatima Zaraket, Michele Malagù, Giulia Parmeggiani, Cecilia Trabanelli, Sergio Fini, Xiao Dang, Xiaoming Wei, Mingyan Fang, Matteo Bertini, Roberto Ferrari, Alessandra Ferlini
Brugada syndrome is a primary arrhythmic syndrome that accounts for 20% of all sudden cardiac death cases in individuals with a structurally normal heart. Pathogenic variants associated with Brugada syndrome have been identified in over 19 genes, with SCN5A as a pivotal gene accounting for nearly 30% of cases. In contrast to other arrhythmogenic channelopathies (such as long QT syndrome), digenic inheritance has never been reported in Brugada syndrome. Exploring 66 cardiac genes using a new custom next-generation sequencing panel, we identified a double heterozygosity for pathogenic mutations in SCN5A and TRPM4 in a Brugada syndrome patient...
May 12, 2017: Cardiology
https://www.readbyqxmd.com/read/28491758/atrial-fibrillation-associated-with-wolff-parkinson-white-syndrome-in-a-patient-with-concomitant-brugada-syndrome
#13
Shaobo Shi, Tao Liu, Hector Barajas-Martinez, Ryan Pfeiffer, Hong Jiang, Congxin Huang, Dan Hu
No abstract text is available yet for this article.
January 2017: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28491752/vagally-mediated-ventricular-arrhythmia-in-brugada-syndrome
#14
Nicholay Teodorovich, Yonatan Kogan, Offir Paz, Moshe Swissa
No abstract text is available yet for this article.
November 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28491743/quinidine-for-brugada-syndrome-panacea-or-poison
#15
Jo-Jo Hai, Chun-Ka Wong, Pak-Hei Chan, Hung-Fat Tse, Tak-Cheung Yung, Chung-Wah Siu
No abstract text is available yet for this article.
November 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28491738/irx3-variant-as-a-modifier-of-brugada-syndrome-with-frequent-ventricular-fibrillation
#16
Yoshitaka Kimura, Takeshi Aiba, Tetsuo Sasano, Tetsushi Furukawa, Kengo Kusano, Wataru Shimizu
No abstract text is available yet for this article.
November 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28491726/endocardial-only-catheter-ablation-with-substantial-improvement-in-ventricular-fibrillation-recurrences-in-a-patient-with-brugada-syndrome
#17
Tatsuya Hayashi, Junichi Nitta, Masahiko Goya, Mitsuaki Isobe, Kenzo Hirao
No abstract text is available yet for this article.
September 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28491722/appearance-of-j-wave-in-the-inferolateral-leads-and-ventricular-fibrillation-provoked-by-mild-hypothermia-in-a-patient-with-brugada-syndrome
#18
Yasuaki Hada, Mitsuhiro Nishizaki, Noriyoshi Yamawake, Harumizu Sakurada, Masayasu Hiraoka
No abstract text is available yet for this article.
September 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28491718/t-wave-oversensing-during-drug-challenge-test-after-subcutaneous-implantable-cardioverter-defibrillator-implantation-in-a-patient-with-brugada-syndrome
#19
Tsukasa Kamakura, Taiki Sato, Mitsuru Wada, Kohei Ishibashi, Takashi Noda, Kengo Kusano
No abstract text is available yet for this article.
September 2016: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28486839/brugada-syndrome-and-the-story-of-dave
#20
Samira Kashinath Dhamapurkar, Barbara A Wilson, Anita Rose, Gerhard Florschutz
Brugada syndrome (BrS) is a little known genetic condition that causes severe disturbances in cardiac rhythm and may result in sudden unexpected cardiac death in an apparently healthy person. The heart structure is typically normal but there are problems with electrical activity. The syndrome is named after Spanish brothers who are cardiologists, Pedro and Josep Brugada. BrS is the major cause of sudden unexplained death syndrome (SUDS), also known as sudden arrhythmic death syndrome (SADS). Following a description of the syndrome, including its prevalence and incidence, how it is diagnosed and how it can be treated, we consider those who survive a cardiac arrest and what problems they may face...
May 10, 2017: Neuropsychological Rehabilitation
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