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Syndrom Brugada

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https://www.readbyqxmd.com/read/28912206/clinical-yield-of-familial-screening-after-sudden-death-in-young-subjects-the-french-experience
#1
Pauline Quenin, Florence Kyndt, Philippe Mabo, Jacques Mansourati, Dominique Babuty, Aurélie Thollet, Béatrice Guyomarch, Richard Redon, Julien Barc, Jean-Jacques Schott, Frederic Sacher, Vincent Probst, Jean Baptiste Gourraud
BACKGROUND: After sudden cardiac death with negative autopsy, clinical screening of relatives identifies a high proportion of inherited arrhythmia syndrome. However, the efficacy of this screening in families not selected by autopsy has never been assessed. We aim to investigate the value of clinical screening in relatives of all subjects who died suddenly before 45 years of age. METHODS AND RESULTS: One hundred and three consecutive families who experienced unexplained sudden cardiac death before 45 years of age were included from May 2009 to December 2014 in a prospective multicenter registry...
September 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28912179/classification-epidemiology-and-global-burden-of-cardiomyopathies
#2
REVIEW
William J McKenna, Barry J Maron, Gaetano Thiene
In the past 25 years, major advances were achieved in the nosography of cardiomyopathies, influencing the definition and taxonomy of this important chapter of cardiovascular disease. Nearly, 50% of patients dying suddenly in childhood or adolescence or undergoing cardiac transplantation are affected by cardiomyopathies. Novel cardiomyopathies have been discovered (arrhythmogenic, restrictive, and noncompacted) and added to update the World Health Organization classification. Myocarditis has also been named inflammatory cardiomyopathy...
September 15, 2017: Circulation Research
https://www.readbyqxmd.com/read/28898267/depolarization-of-the-conductance-voltage-relationship-in-the-nav1-5-mutant-e1784k-is-due-to-altered-fast-inactivation
#3
Colin H Peters, Alec Yu, Wandi Zhu, Jonathan R Silva, Peter C Ruben
E1784K is the most common mixed long QT syndrome/Brugada syndrome mutant in the cardiac voltage-gated sodium channel NaV1.5. E1784K shifts the midpoint of the channel conductance-voltage relationship to more depolarized membrane potentials and accelerates the rate of channel fast inactivation. The depolarizing shift in the midpoint of the conductance curve in E1784K is exacerbated by low extracellular pH. We tested whether the E1784K mutant shifts the channel conductance curve to more depolarized membrane potentials by affecting the channel voltage-sensors...
2017: PloS One
https://www.readbyqxmd.com/read/28884873/impact-of-premature-activation-of-the-right-ventricle-with-programmed-stimulation-in-brugada-syndrome
#4
Koji Nakagawa, Satoshi Nagase, Hiroshi Morita, Tadashi Wada, Masamichi Tanaka, Masato Murakami, Atsuyuki Watanabe, Nobuhiro Nishii, Kazufumi Nakamura, Kengo F Kusano, Hiroshi Ito, Tohru Ohe
BACKGROUND: In Brugada syndrome (BrS), it has been reported that delayed activation in the RV is related to the development of type-1 ECG which is more critical than type-2. On the other hand, the coexistence of complete right bundle-branch block (CRBBB), which also causes delayed activation in the RV, sometimes makes typical BrS ECG misleading. We hypothesized that premature stimulation of the RV can unmask the influence of delayed activation in the RV and convert the morphology of ECG in BrS patients...
September 8, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28878239/mutation-e87q-of-the-%C3%AE-1-subunit-impairs-the-maturation-of-the-cardiac-voltage-dependent-sodium-channel
#5
Debora Baroni, Cristiana Picco, Oscar Moran
Voltage-dependent sodium channels are responsible of the rising phase of the action potential in excitable cells. These membrane integral proteins are composed by a pore-forming α-subunit, and one or more auxiliary β subunits. Mutation E87Q of the β1 subunit is correlated with Brugada syndrome, a genetic disease characterised by ventricular fibrillation, right precordial ST segment elevation on ECG and sudden cardiac death. Heterologous expression of E87Q-β1 subunit in CHO cells determines a reduced sodium channel functional expression...
September 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28877999/sudden-cardiac-arrest-while-eating-a-hot-dog-a-rare-presentation-of-brugada-syndrome-in-a-child
#6
Isa Ozyilmaz, Bedir Akyol, Yakup Ergul
Patients who are diagnosed with Brugada syndrome (BS) usually experience sudden cardiac arrest (SCA) and arrhythmia when they have a high fever, consume alcohol, and, more frequently, during their night sleep. In some rare cases, an SCA can be seen depending on a possible vagal stimulus, such as eating a large bite of food. We describe a 9-year-old patient who had a sudden cardiac attack while he was eating a large hot dog. After successful resuscitation, a suspicious ST elevation in V2 was seen in his electrocardiographic evaluation...
September 6, 2017: Pediatrics
https://www.readbyqxmd.com/read/28844282/brugada-phenocopy-during-right-coronary-artery-dissection
#7
Aldo G Carrizo, Anahi Goransky, Adrian Baranchuk
CASE PRESENTATION: A 68-year-old female presented with non-ST-segment elevation myocardial infarction, and urgency coronary angiography was performed. The procedure was complicated with right coronary artery dissection leading to type-1 Brugada ECG pattern. DISCUSSION: Brugada phenocopies (BrP) are clinical entities that present with electrocardiograms identical to those found in Brugada Syndrome (BrS) but are the result of different medical conditions. This report provides evidence that atypical causes of myocardial ischemia may induce BrP...
July 12, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/28842979/epicardial-ablation-utilising-remote-magnetic-navigation-in-a-patient-with-brugada-syndrome-and-inferior-early-repolarisation
#8
Paul Chun Yih Lim, Koonlawee Nademanee, Edward Chun Yi Lee, Wee Siong Teo
We report a case of epicardial ablation in a combined Brugada and inferior early repolarization syndrome patient with recurrent defibrillator therapy for spontaneous VF. Electroanatomic mapping and ablation were achieved with remote magnetic navigation. Highly fractionated electrograms were seen epicardially in the anterior RVOT and at the anterior-inferior right ventricle. Ablation of the RVOT region resulted in resolution Brugada pattern ECG. The inferior early repolarisation persisted despite ablation of the inferior right ventricular epicardium...
August 26, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28840105/brugada-syndrome-malignant-phenotype-associated-with-acute-cardiac-inflammation
#9
Anthony Li, Roderick Tung, Kalyanam Shivkumar, Jason S Bradfield
No abstract text is available yet for this article.
August 2017: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/28819034/when-high-throughput-meets-mechanistic-studies-a-state-of-the-art-approach-in-brugada-syndrome
#10
EDITORIAL
Bettina Heidecker
No abstract text is available yet for this article.
August 18, 2017: Circulation Research
https://www.readbyqxmd.com/read/28810115/current-guidelines-on-syncope
#11
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
#12
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
#13
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...
September 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
#14
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: The purpose of this study was to identified a unique SCN5A-mutation founder population with mixed clinical phenotypes and sudden cardiac death, and to investigate 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
#15
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
#16
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
#17
Gaetano Vacanti, Riccardo Maragna, Silvia G Priori, Andrea Mazzanti
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...
October 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
#18
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
#19
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
#20
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...
September 15, 2017: American Journal of Cardiology
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