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Brugada syndrome

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https://www.readbyqxmd.com/read/28810115/current-guidelines-on-syncope
#1
Maheedhar Gedela, Naveen Rajpurohit, Kashif A Shaikh, Muhammad Omar, Scott Pham
Syncope is a very commonly encountered clinical problem in general practice and in the emergency department. In the evaluation of syncope, it is important to identify the specific cause to determine the treatment, to estimate the precise risk to a patient, and to reduce recurrence. Sometimes, making a diagnosis of syncope is difficult, as different mechanisms may often coexist. Syncope causes a significant impact on quality of life due to associated risk of physical injury. In particular, syncope can be a precursor to sudden cardiac death in patients with underlying cardiac disease...
November 2016: South Dakota Medicine: the Journal of the South Dakota State Medical Association
https://www.readbyqxmd.com/read/28800177/exercise-stress-test-reveals-ineligibility-for-subcutaneous-implantable-cardioverter-defibrillator-in-patients-with-brugada-syndrome
#2
Motomi Tachibana, Nobuhiro Nishii, Hiroshi Morita, Koji Nakagawa, Atsuyuki Watanabe, Kazufumi Nakamura, Hiroshi Ito
BACKGROUND: The eligibility of patients with Brugada syndrome (BrS) for implantation of a subcutaneous implantable cardioverter defibrillator (S-ICD) is not well known. This study aimed to clarify the eligibility of BrS patients for S-ICD using electrocardiography (ECG) at rest and during exercise testing. We also analyzed factors associated with ineligibility for S-ICD from standard 12-lead ECG at rest. METHODS: We enrolled 110 consecutive BrS patients who visited Okayama university hospital from December 2015 to December 2016...
August 11, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28797161/masked-inherited-primary-arrhythmia-syndromes-in-sudden-cardiac-death-patients-accompanied-by-coronary-vasospasm
#3
Ki Hong Lee, Hyung Wook Park, Jeong Nam Eun, Jeong Gwan Cho, Nam Sik Yoon, Mi Ran Kim, Yo Han Ku, Hyukjin Park, Seung Hun Lee, Jeong Han Kim, Min Chul Kim, Woo Jin Kim, Hyun Kuk Kim, Jae Yeong Cho, Keun-Ho Park, Doo Sun Sim, Hyun Ju Yoon, Kye Hun Kim, Young Joon Hong, Ju Han Kim, Youngkeun Ahn, Myung Ho Jeong, Jong Chun Park
Background/Aims: Coronary vasospasms are one of the important causes of sudden cardiac death (SCD). Provocation of coronary vasospasms can be useful, though some results may lead to false positives, with patients potentially experiencing recurrent SCD despite appropriate medical treatments. We hypothesized that it is not coronary vasospasms but inherited primary arrhythmia syndromes (IPAS) that underlie the development of SCD. Methods: We analyzed 74 consecutive patients (3...
August 11, 2017: Korean Journal of Internal Medicine
https://www.readbyqxmd.com/read/28782696/heritability-in-a-scn5a-mutation-founder-population-with-increased-female-susceptibility-to-non-nocturnal-ventricular-tachyarrhythmia-and-sudden-cardiac-death
#4
Rachel M A Ter Bekke, Aaron Isaacs, Andrei Barysenka, Marije B Hoos, Jan D H Jongbloed, Jan C A Hoorntje, Alfons S M Patelski, Apollonia T J M Helderman-van den Enden, Arthur van den Wijngaard, Monika Stoll, Paul G A Volders
BACKGROUND: Heritable cardiac sodium-channel dysfunction is associated with various arrhythmia syndromes, some predisposing to ventricular fibrillation. Phenotypic diversity among carriers of identical-by-descent mutations is often remarkable, suggesting influences of genetic modifiers. OBJECTIVE: We identified a unique SCN5A-mutation founder population with mixed clinical phenotypes and sudden cardiac death, and investigated the heritability of electromechanical traits besides the SCN5A-mutation effect...
August 3, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28781860/masquerading-bundle-branch-block-obscuring-the-diagnosis-of-brugada-syndrome-an-electrocardiographic-and-vectorcardiographic-study
#5
Isabel V Konopka, Hugo A Garro, Rita B Tepper, Norma Pizzarelli, Mario D Gonzalez, Rafael S Acunzo
We describe the induction of a masquerading bundle branch block in two patients with Brugada syndrome following the administration of Ajmaline. The development of this conduction disturbance prevented the correct electrocardiographic diagnosis. However, the simultaneously obtained vectocardiogram identified both the Brugada pattern and the masquerading bundle branch block.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28781849/double-jeopardy-long-qt3-and-brugada-syndromes
#6
Amneet Sandhu, Ryan T Borne, Chandara Mam, T Jared Bunch, Ryan G Aleong
Mutations in the SCN5A gene are linked to both the long QT syndrome 3 and Brugada syndrome with few reports describing an overlapping phenotype. We present a unique case and discuss clinical considerations of a patient concurrently exhibiting such conditions with genetic analysis confirming an SCN5A mutation.
August 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28759457/genetic-causes-of-sudden-cardiac-death-in-children-inherited-arrhythmogenic-diseases
#7
Gaetano Vacanti, Riccardo Maragna, Andrea Mazzanti, Silvia G Priori
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...
July 28, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28748141/recording-of-isolated-very-delayed-potentials-on-the-right-ventricular-epicardium-in-a-patient-with-brugada-syndrome
#8
Atsuyuki Watanabe, Hiroshi Morita, Sho Tsushima, Koji Nakagawa, Nobuhiro Nishii, Hiroshi Ito
No abstract text is available yet for this article.
July 2017: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28742119/doestrare-a-statistical-test-to-identify-local-enrichments-in-rare-genomic-variants-associated-with-disease
#9
Elodie Persyn, Matilde Karakachoff, Solena Le Scouarnec, Camille Le Clézio, Dominique Campion, French Exome Consortium, Jean-Jacques Schott, Richard Redon, Lise Bellanger, Christian Dina
Next-generation sequencing technologies made it possible to assay the effect of rare variants on complex diseases. As an extension of the "common disease-common variant" paradigm, rare variant studies are necessary to get a more complete insight into the genetic architecture of human traits. Association studies of these rare variations show new challenges in terms of statistical analysis. Due to their low frequency, rare variants must be tested by groups. This approach is then hindered by the fact that an unknown proportion of the variants could be neutral...
2017: PloS One
https://www.readbyqxmd.com/read/28739038/anesthetic-and-perioperative-management-of-patients-with-brugada-syndrome
#10
REVIEW
Gregory Dendramis, Claudia Paleologo, Giuseppe Sgarito, Umberto Giordano, Roberto Verlato, Adrian Baranchuk, Pedro Brugada
Brugada syndrome (BrS) is an arrhythmogenic disease reported to be one among the leading causes of cardiac death in subjects under the age of 40 years. In these patients, episodes of lethal arrhythmias may be induced by several factors or situations, and for this reason, management during anesthesia and surgery must provide some precautions and drugs restrictions. To date, it is difficult to formulate guidelines for anesthetic management of patients with BrS because of the absence of prospective studies, and there is not a definite recommendation for neither general nor regional anesthesia, and there are no large studies in merit...
June 28, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28734879/ventricular-arrhythmias-ablation-in-brugada-syndrome-current-and-future-directions
#11
Carlo Pappone, Josep Brugada
No abstract text is available yet for this article.
July 19, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28734073/differential-calcium-sensitivity-in-nav-1-5-mixed-syndrome-mutants
#12
Mena Abdelsayed, Alban-Elouen Baruteau, Karen Gibbs, Shubhayan Sanatani, Andrew D Krahn, Vincent Probst, Peter C Ruben
INTRODUCTION: Inherited arrhythmias may arise from mutations in the SCN5a gene, which encodes the cardiac voltage-gated sodium channel, NaV 1.5. Mutants in NaV 1.5 result in Brugada Syndrome (BrS1), Long-QT Syndrome (LQT3), or mixed syndromes (an overlap of BrS1/LQT3). Exercise is a potential arrhythmogenic trigger in mixed syndromes. We sought to determine the effects of elevated cytosolic calcium, common during exercise, in mixed syndrome NaV 1.5 mutants. METHODS: We used whole-cell patch-clamp to assess the biophysical properties of NaV 1...
July 22, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28728742/a-clinical-score-model-to-predict-lethal-events-in-young-patients-%C3%A2-19-years-with-the-brugada-syndrome
#13
M Cecilia Gonzalez Corcia, Juan Sieira, Gudrun Pappaert, Carlo de Asmundis, Gian Battista Chierchia, Andrea Sarkozy, Pedro Brugada
Risk stratification in Brugada syndrome in young patients remains challenging. We investigated the clinical characteristics, prognosis, and risk in young patients with the Brugada syndrome. We studied 95 patients with the Brugada syndrome aged ≤19 years. The median age at diagnosis was 12.9 years. The clinical presentation was sudden cardiac death in 7% and syncope in 21%. The remaining 72% were asymptomatic at diagnosis. Electrical abnormalities were present in 36%, including spontaneous type I electrocardiogram (12%), sinus node dysfunction (9%), atrioventricular block (17%), intraventricular conduction delay (16%), and atrial arrhythmias (8%)...
June 15, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28709698/revisiting-the-sensitivity-of-sodium-channel-blocker-testing-in-brugada-syndrome-using-obligate-transmittance
#14
EDITORIAL
Rafik Tadros, Arthur A M Wilde
No abstract text is available yet for this article.
July 5, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28705229/brugada-syndrome-in-a-patient-with-amyotrophic-lateral-sclerosis-a-case-report
#15
Anusha Battineni, Rohit Gummi, Naresh Mullaguri, Raghav Govindarajan
BACKGROUND: Amyotrophic lateral sclerosis is a fatal neuromuscular disorder characterized by progressive death of the upper and lower motor neurons in the central nervous system. Patients with this disease die mostly as a result of respiratory failure; however, owing to prolonged survival through assisted ventilation, cardiovascular causes are increasingly responsible for mortality. We report what is to the best of our knowledge the first case of type 2 Brugada syndrome causing ventricular tachyarrhythmia and cardiac arrest in a patient with upper limb onset amyotrophic lateral sclerosis...
July 14, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28703223/unmasking-the-molecular-link-between-arrhythmogenic-cardiomyopathy-and-brugada-syndrome
#16
REVIEW
Javier Moncayo-Arlandi, Ramon Brugada
The intercalated discs that connect cardiomyocytes control cell-to-cell adhesion and communication. Several macromolecular structures (desmosomes, fascia adherens junctions, gap junctions, and sodium-channel complexes) coexist in, and confer their mechanical and electrical properties to, the intercalated disc. Traditionally, each structure was assumed to have a unique function in the intercalated disc. However, growing evidence suggests that these complexes act together in intercellular communication and adhesion, forming a single structural and functional entity - the connexome...
July 13, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28690312/wolff-parkinson-white-syndrome-with-ventricular-hypertrophy-in-a-brazilian-family
#17
Lenises de Paula van der Steld, Oscar Campuzano, Alexandra Pérez-Serra, Mabel Moura de Barros Zamorano, Selma Sousa Matos, Ramon Brugada
BACKGROUND PRKAG2 syndrome diagnosis is already well-defined as Wolff-Parkinson-White syndrome (WPW), ventricular hypertrophy (VH) due to glycogen accumulation, and conduction system disease (CSD). Because of its rarity, there is a lack of literature focused on the treatment. The present study aimed to describe appropriate strategies for the treatment of affected family members with PRKAG2 syndrome with a long follow-up period. CASE REPORT We studied 60 selected individuals from 84 family members (32 males, 53...
July 10, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28685701/the-role-of-quinidine-in-the-pharmacological-therapy-of-ventricular-arrhythmias-quinidine
#18
Bojana Bozic, Teodora Vidonja Uzelac, Aleksandra Kezic, Milica Bajcetic
BACKGROUND: Historically, quinidine was the first medicine used in the therapy of heart arrhythmias. Studies in the early 20th century identified quinidine, a diastereomer of the antimalarial quinine, as the most potent of the antiarrhythmic substances extracted from the cinchona plant. Quinidine is used by the 1920s, as an antiarrhythmic agent to maintain sinus rhythm after conversion from atrial flutter or atrial fibrillation and to prevent recurrence of ventricular tachycardia or ventricular fibrillation...
July 7, 2017: Mini Reviews in Medicinal Chemistry
https://www.readbyqxmd.com/read/28666944/sodium-channel-blocker-challenge-in-the-familial-screening-of-brugada-syndrome-safety-and-predictors-of-positivity
#19
Dylan Therasse, Frederic Sacher, Bertrand Petit, Dominique Babuty, Philippe Mabo, Raphael Martins, Laurence Jesel, Philippe Maury, Jean Luc Pasquie, Jacques Mansourati, Jean Marc Dupuis, Florence Kyndt, Aurélie Thollet, Beatrice Guyomarch, Julien Barc, Jean Jacques Schott, Herve Le Marec, Richard Redon, Vincent Probst, Jean-Baptiste Gourraud
BACKGROUND: Sodium-channel blocker challenge (SCBC) is frequently performed to unmask Brugada syndrome. OBJECTIVE: We aim to identify predictors of positivity and complications of SCBC in the setting of familial screening of Brugada syndrome. METHODS: All consecutive patients from 2000 to 2014 who benefit from a sodium-channel blocker and belong to a family with at least 2 subjects affected by the syndrome were enrolled and followed prospectively...
June 27, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28666943/risk-of-arrhythmic-events-in-drug-induced-brugada-syndrome
#20
EDITORIAL
Najim Lahrouchi, Mario Talajic, Rafik Tadros
No abstract text is available yet for this article.
June 27, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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