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https://www.readbyqxmd.com/read/29691127/digenic-heterozigosity-in-scn5a-and-cacna1c-explains-the-variable-expressivity-of-the-long-qt-phenotype-in-a-spanish-family
#1
Paloma Nieto-Marín, Juan Jiménez-Jáimez, David Tinaquero, Silvia Alfayate, Raquel G Utrilla, María Del Mar Rodríguez Vázquez Del Rey, Francesca Perin, Geòrgia Sarquella-Brugada, Lorenzo Monserrat, Josep Brugada, Luis Tercedor, Juan Tamargo, Eva Delpón, Ricardo Caballero
INTRODUCTION AND OBJECTIVES: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. METHODS: L-type calcium current (ICaL ) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p...
April 21, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29687676/can-sudden-cardiac-death-in-the-young-be-predicted-and-prevented-lessons-from-autopsy-for-the-emergency-physician
#2
Jennifer L White, Anna Marie Chang, Sergi Cesar, Georgia Sarquella-Brugada
Sudden unexpected death in the young, though rare, is devastating for both the family and the community. Although only 1.3 to 8.5 cases of sudden cardiac death (SCD) occur per 100 000 young people, autopsy is often inconclusive. Many causes of SCD are related to autosomal dominant inherited risk, however; therefore, answers are important for survivors. Causes of autopsy-positive SCD in young patients include hypertrophic cardiomyopathy and arrhythmogenic right ventricular dysplasia. Autopsy-negative SCD has been related to inherited arrhythmogenic causes such as long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, Wolff- Parkinson-White syndrome, and idiopathic ventricular fibrillation...
June 2018: Emergencias: Revista de la Sociedad Española de Medicina de Emergencias
https://www.readbyqxmd.com/read/29679186/impact-of-an-additional-right-pulmonary-vein-on-second-generation-cryoballoon-ablation-for-atrial-fibrillation-a-propensity-matched-score-study
#3
Ken Takarada, Erwin Ströker, Juan-Pablo Abugattas, Valentina de Regibus, Hugo-Enrique Coutiño, Ian Lusoc, Lucio Capulzini, Juan Sieira, Giacomo Mugnai, Francesca Salghetti, Rajin Choudhury, Saverio Iacopino, Carlo de Asmundis, Pedro Brugada, Gian-Battista Chierchia
PURPOSE: Cryoballoon (CB) technology in the context of anatomical pulmonary vein (PV) variants might hypothetically hamper successful PV isolation (PVI). Our aim was to assess the impact of a right middle PV (RMPV) in the setting of second-generation cryoballoon (CB advance-CB-A), on procedural parameters and on mid-term follow-up. METHODS: Consecutive patients with AF presenting RMPV (RMPV+) at the pre-procedural computed tomography who underwent PVI by CB-A were enrolled...
April 21, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29678781/hot-topics-in-brugada-syndrome
#4
EDITORIAL
Hiroshi Morita
No abstract text is available yet for this article.
April 17, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29672598/long-qt-molecular-autopsy-in-sudden-unexplained-death-in-the-young-1-40-years-old-lessons-learnt-from-an-eight-year-experience-in-new-zealand
#5
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner
BACKGROUND: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand. METHODS: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families. RESULTS: During the study period, 365 SUDY cases were referred for molecular autopsy. 128 cases (35%) underwent LQTS genetic testing. 31 likely pathogenic variants were identified in 27 cases (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1 (2/31, 7%), KCNJ2 (1/31, 3%)...
2018: PloS One
https://www.readbyqxmd.com/read/29655994/peripartum-anaesthetic-management-of-a-patient-with-brugada-syndrome-and-myoadenylate-deaminase-deficiency
#6
H Dawe, R Wendler, E Evans, S Hammond
Brugada syndrome is a rare electrophysiological cardiac disease which can result in serious arrhythmias and sudden cardiac death. Peripartum management is centred around avoiding arrhythmogenic drugs, including high doses of sodium channel blocking drugs such as bupivacaine. Myoadenylate deaminase deficiency, also known as adenosine monophosphate deaminase deficiency, is the commonest cause of myopathy in Caucasians. There is evidence that myoadenylate deaminase deficiency can predispose patients to developing malignant hyperthermia when exposed to specific anaesthetic agents...
March 2, 2018: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/29655766/mechanical-chest-compressions-and-traumatic-complications-in-out-of-hospital-cardiac-arrest-is-there-a-price-to-pay
#7
Josep Iglesies, Pablo Loma-Osorio, Jaime Aboal, María Núñez, Ramon Brugada
No abstract text is available yet for this article.
April 11, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29652902/relations-between-right-ventricular-morphology-and-clinical-electrical-and-genetic-parameters-in-brugada-syndrome
#8
Belinda Gray, Ganesh Kumar Gnanappa, Richard D Bagnall, Giuseppe Femia, Laura Yeates, Jodie Ingles, Charlotte Burns, Rajesh Puranik, Stuart M Grieve, Christopher Semsarian, Raymond W Sy
BACKGROUND: Increasing evidence suggests the presence of structural changes affecting the right ventricular outflow tract (RVOT) in patients with Brugada Syndrome (BrS). The aim of this study was to characterise the RV morphology in BrS and explore associations between morphologic, clinical, electrical, and genetic parameters using non-invasive multimodality testing. METHODS: Consecutive BrS patients (recruited 2013-2015) underwent clinical assessment, dedicated RV imaging using cardiac magnetic resonance (CMR) imaging (unless contra-indicated), electrical assessment (electrocardiogram, Holter monitoring, signal-averaged ECG[SAECG]) and genotyping...
2018: PloS One
https://www.readbyqxmd.com/read/29650450/familial-brugada-syndrome-associated-with-a-complete-deletion-of-the-scn5a-and-scn10a-genes
#9
Juan Pablo Trujillo-Quintero, María Gutiérrez-Agulló, Juan Pablo Ochoa, Juan Gabriel Martínez-Martínez, David de Uña, Amaya García-Fernández
No abstract text is available yet for this article.
April 9, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29650120/programmed-ventricular-stimulation-and-brugada-syndrome-new-insights-old-controversies
#10
EDITORIAL
David J Wilber
No abstract text is available yet for this article.
April 17, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29650119/assessing-the-malignant-ventricular-arrhythmic-substrate-in-patients-with-brugada-syndrome
#11
Carlo Pappone, Giuseppe Ciconte, Francesco Manguso, Gabriele Vicedomini, Valerio Mecarocci, Manuel Conti, Luigi Giannelli, Paolo Pozzi, Valeria Borrelli, Lorenzo Menicanti, Zarko Calovic, Giuseppe Della Ratta, Josep Brugada, Vincenzo Santinelli
BACKGROUND: Guidelines recommend the use of implanted cardioverter-defibrillators in patients with Brugada syndrome and induced ventricular tachyarrhythmias, but there is no evidence supporting it. OBJECTIVES: This prospective registry study was designed to explore clinical and electrophysiological predictors of malignant ventricular tachyarrhythmia inducibility in Brugada syndrome. METHODS: A total of 191 consecutive selected patients with (group 1; n = 88) and without (group 2; n = 103) Brugada syndrome-related symptoms were prospectively enrolled in the registry...
April 17, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29649615/fever-related-arrhythmic-events-in-the-multicenter-survey-on-arrhythmic-events-in-brugada-syndrome-sabrus
#12
Yoav Michowitz, Anat Milman, Georgia Sarquella-Brugada, Antoine Andorin, Jean Champagne, Pieter G Postema, Ruben Casado-Arroyo, Eran Leshem, Jimmy Jm Juang, Carla Giustetto, Jacob Tfelt-Hansen, Yanushi D Wijeyeratne, Christian Veltmann, Domenico Corrado, Sung-Hwan Kim, Pietro Delise, Shingo Maeda, Jean-Baptiste Gourraud, Frederic Sacher, Philippe Mabo, Yoshihide Takahashi, Tsukasa Kamakura, Takeshi Aiba, Giulio Conte, Aviram Hochstadt, Yuka Mizusawa, Michael Rahkovich, Elena Arbelo, Zhengrong Huang, Isabelle Denjoy, Carlo Napolitano, Ramon Brugada, Leonardo Calo, Silvia G Priori, Masahiko Takagi, Elijah R Behr, Fiorenzo Gaita, Gan-Xin Yan, Josep Brugada, Antoine Leenhardt, Arthur A M Wilde, Pedro Brugada, Kengo F Kusano, Kenzo Hirao, Gi-Byoung Nam, Vincent Probst, Bernard Belhassen
BACKGROUND: The literature on fever related arrhythmic events (AE) in Brugada syndrome (BrS) is currently limited to few case reports and small series. OBJECTIVE: The current study aims to describe the characteristics of fever-related AE in a large cohort of BrS patients. METHODS: SABRUS is a multicenter study on 678 BrS patients with first AE documented at time of aborted cardiac arrest (ACA) (n=426) or after prophylactic ICD implantation (n=252)...
April 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29626346/propofol-for-implantable-cardioverter-defibrillator-implantation-in-patients-with-brugada-syndrome
#13
Hye-Mee Kw On, Sung-Hoon Kim, Se-Ung Pa Rk, Jin-Ho Rh Im, Hee-Su N Park, Wook-Jong Kim, Gi-Byou Ng Nam
AIMS: Avoiding propofol in patients with Brugada syndrome has been suggested because of the theoretical risk of provoking ventricular arrhythmias, although propofol may be selected for conscious sedation during electrophysiological procedures in catheterization laboratories. This study aimed to document peri-procedural electrocardiographic changes and adverse events in patients with Brugada syndrome undergoing implantable cardioverter defibrillator (ICD) implantation using propofol sedation...
April 6, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#14
REVIEW
W Grimm, A Grimm, K Grimm, E Efimova
A number of rare cardiac diseases can be recognized by electrocardiogram (ECG). This article illustrates the clinical importance of ECG as a key diagnostic tool to detect Wolff-Parkinson-White syndrome and channelopathies, which are frequently diagnosed late after one or more affected family members have become victims of sudden cardiac death. These channelopathies include long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. In addition, typical ECG findings are frequently present in patients with idiopathic ventricular tachycardia, arrhythmogenic right ventricular dysplasia, digitalis intoxication, hyperkalemia, acute cor pulmonale due to pulmonary embolism, as well as severe left ventricular hypertrophy as in hypertrophic cardiomyopathy...
April 4, 2018: Der Internist
https://www.readbyqxmd.com/read/29608225/prediction-of-ventricular-tachyarrhythmia-in-brugada-syndrome-by-right-ventricular-outflow-tract-conduction-delay-signs
#15
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Agnes J Q M Muskens, Natasja M S de Groot
BACKGROUND: Brugada syndrome (BrS) is an autosomal dominant disease responsible for sudden cardiac death in young individuals without structural anomalies. The most critical part in management of this channelopathy is identification of high risk patients, especially asymptomatic subjects. Prior studies have shown that conduction delay in the right ventricular outflow tract (RVOT) is the main mechanism for developing ventricular tachyarrhythmia (VTA) in BrS patients. The aim of this study was to investigate the significance of electrocardiographic RVOT conduction delay parameters as predictors for development of VTA in patients with BrS...
April 2, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29601309/anatomical-and-procedural-predictors-of-pulmonary-vein-stenosis-in-the-setting-of-second-generation-cryoballoon-ablation
#16
Hugo-Enrique Coutiño, Ken Takarada, Juan Sieira, Juan-Pablo Abugattas, Francesca Salghetti, Valentina De Regibus, Erwin Ströker, Pedro Brugada, Saverio Iacopino, Carlo de Asmundis, Gian-Battista Chierchia
AIMS: Pulmonary vein stenosis (PVS) is a well recognized complication as a consequence of pulmonary vein isolation. In the current study, we sought to analyze potential anatomical and intraprocedural predictors of PVS during second-generation cryoballoon ablation, particularly focusing on the impact of freeze duration and number of cryoapplications. METHODS: Fifty-four patients who underwent cryoballoon ablation for atrial fibrillation were included retrospectively in this study...
March 29, 2018: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/29593552/k-v-4-3-expression-modulates-na-v-1-5-sodium-current
#17
Vincent Portero, Ronald Wilders, Simona Casini, Flavien Charpentier, Arie O Verkerk, Carol Ann Remme
In cardiomyocytes, the voltage-gated transient outward potassium current (Ito ) is responsible for the phase-1 repolarization of the action potential (AP). Gain-of-function mutations in KCND3 , the gene encoding the Ito carrying KV 4.3 channel, have been associated with Brugada syndrome (BrS). While the role of Ito in the pro-arrhythmic mechanism of BrS has been debated, recent studies have suggested that an increased Ito may directly affect cardiac conduction. However, the effects of an increased Ito on AP upstroke velocity or sodium current at the cellular level remain unknown...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29578424/influence-of-catheter-ablation-of-paroxysmal-supraventricular-tachycardia-on-patients-anxiety
#18
G Papiashvili, N Tabagari-Bregvadze, J Brugada
The aim of the study was to investigate the influence of catheter ablation of paroxysmal supraventricular tachycardia on patients' anxiety levels. We investigated 70 consecutive patients with paroxysmal supraventricular tachycardia (AV Nodal Reentrant Tachycardia (AVNRT), AV Reentrant Tachycardia (AVRT) or Atrial Tachycardia (AT)) who underwent a catheter ablation. The patients filled out the State and Trait Anxiety Inventory (STAI) before the ablation on the day of the procedure and after 3 months of a successful catheter ablation...
February 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29578423/impact-of-radiofrequency-catheter-ablation-on-health-related-quality-of-life-assessed-by-the-sf-36-questionnaire-in-patients-with-paroxysmal-supraventricular-tachycardia
#19
G Papiashvili, N Tabagari-Bregvadze, J Brugada
The aim of the study was to investigate the effect of catheter ablation on different aspects of health-related quality of life in association with patients' age, gender and the type of paroxysmal supraventricular tachycardia. We investigated 70 consecutive patients with paroxysmal supraventricular tachycardia (AV Nodal Reentrant Tachycardia (AVNRT), AV Reentrant Tachycardia (AVRT) or Atrial Tachycardia (AT)) who underwent a catheter ablation. The patients were asked to fill out the short form (SF-36) health questionnaire before the ablation on the day of the procedure and after 3 months of a successful catheter ablation and eight health concept scores (1...
February 2018: Georgian Medical News
https://www.readbyqxmd.com/read/29574594/endomyocardial-biopsy-at-the-time-of-ablation-or-device-implantation
#20
Ammar M Killu, Nishaki Mehta, Qi Zheng, Piotr Sobieszczyk, Usha B Tedrow, William G Stevenson, Roy M John
PURPOSE: Cardiomyopathies frequently lead to conduction system disease and/or arrhythmias necessitating device therapy, catheter ablation, or both. Endomyocardial biopsy (EMB) is avoided with recent right ventricle (RV) lead implants and optimal timing is uncertain. We determined outcomes of EMB at the time of ablation or device implantation procedures. METHODS: We retrospectively analyzed patients undergoing EMB during their electrophysiological procedure between January 2014 and July 2016...
March 24, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
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