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Syndrom Brugada

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https://www.readbyqxmd.com/read/28645806/brugada-syndrome-a-general-cardiologist-s-perspective
#1
REVIEW
Marija M Polovina, Milica Vukicevic, Bojan Banko, Gregory Y H Lip, Tatjana S Potpara
Brugada syndrome (BrS) is one of the commonest inherited primary arrhythmia syndromes typically presenting with arrhythmic syncope or sudden cardiac death (SCD) due to polymorphic ventricular tachycardia and ventricular fibrillation precipitated by vagotonia or fever in apparently healthy adults, less frequently in children. The prevalence of the syndrome (0.01%-0.3%) varies among regions and ethnicities, being the highest in Southeast Asia. BrS is diagnosed by the "coved type" ST-segment elevation≥2mm followed by a negative T-wave in ≥1 of the right precordial leads V1-V2...
June 20, 2017: European Journal of Internal Medicine
https://www.readbyqxmd.com/read/28637782/the-brugada-syndrome-susceptibility-gene-hey2-modulates-cardiac-transmural-ion-channel-patterning-and-electrical-heterogeneity
#2
Christiaan C Veerman, Svitlana Podliesna, Rafik Tadros, Elisabeth M Lodder, Isabella Mengarelli, Berend de Jonge, Leander Beekman, Julien Barc, Ronald Wilders, Arthur A Wilde, Bastiaan J Boukens, Ruben Coronel, Arie Verkerk, Carol Ann Remme, Connie R Bezzina
Rationale: Genome-wide association studies previously identified an association of rs9388451 at chromosome 6q22.3 (near HEY2) with Brugada syndrome (BrS). The causal gene and underlying mechanism remain unresolved. Objective: We used an integrative approach entailing transcriptomic studies in human hearts and electrophysiological studies in Hey2 heterozygous knockout mice (Hey2(+/-) ) to dissect the underpinnings of the 6q22.31 association with BrS. Methods and Results: We queried expression quantitative trait locus (eQTL) data acquired in 190 human left ventricular (LV) samples from the Genotype-Tissue Expression (GTEx) consortium for cis-eQTL effects of rs9388451 which revealed an association between BrS risk allele dosage and HEY2 expression (β=+0...
June 21, 2017: Circulation Research
https://www.readbyqxmd.com/read/28625200/the-value-of-performing-invasive-risk-stratification-in-young-patients-with-the-brugada-syndrome
#3
M Cecilia Gonzalez Corcia, Pedro Brugada
No abstract text is available yet for this article.
June 19, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28625016/brugada-syndrome-and-exercise-practice-current-knowledge-shortcomings-and-open-questions
#4
Giuseppe Mascia, Elena Arbelo, Jaime Hernández Ojeda, Francesco Solimene, Ramon Brugada, Josep Brugada
Since its recognition as a clinical entity in 1992, the Brugada Syndrome (BrS), a hereditary disease characterized by a typical electrocardiogram (ECG) pattern potentially predisposing to sudden cardiac death (SCD), has attracted the attention of many physicians for its circadian pattern of ventricular arrhythmias (VA), mostly occurring at rest. Exercise may potentially worsen the ECG abnormalities in BrS patients, resulting in higher peak J-point amplitudes during the vasovagal reaction of the recovery period, possibly leading to an increased risk of cardiac events...
June 18, 2017: International Journal of Sports Medicine
https://www.readbyqxmd.com/read/28616803/amitriptyline-may-have-possibility-to-induce-brugada-syndrome-rather-than-long-qt-syndrome
#5
Nur Jaharat Lubna, Takeshi Wada, Yuji Nakamura, Koki Chiba, Xin Cao, Hiroko Izumi-Nakaseko, Kentaro Ando, Atsuhiko T Naito, Yoshioki Satoh, Atsushi Sugiyama
Amitriptyline has been reported to induce long QT syndrome in addition to Brugada syndrome. We qualitatively and quantitatively analyzed the potential of amitriptyline to induce these lethal syndromes by using the halothane-anesthetized dogs (n = 6). Amitriptyline was intravenously administered in doses of 0.1, 1 and 10 mg/kg over 10 min every 20 min, which would provide approximately 1, 10 and 100 times higher plasma concentrations than a therapeutic one, respectively. The low dose hardly altered any of the cardiovascular variables...
June 14, 2017: Cardiovascular Toxicology
https://www.readbyqxmd.com/read/28608483/brugada-syndrome-brugada-phenocopy-or-none
#6
Umut Kocabas, Can Hasdemir, Esra Kaya, Cuneyt Turkoglu, Adrian Baranchuk
Brugada syndrome is a form of inherited arrhythmia syndrome characterized by a distinct ST-segment elevation in the right precordial leads. Brugada phenocopies are clinical entities that present with an electrocardiographic pattern identical to Brugada syndrome and may obey to various clinical conditions. We present a case of a suicidal attempt using a high dose of propafenone causing a Brugada-type electrocardiographic pattern. Is this a Brugada syndrome case, a Brugada phenocopy or something else?
June 13, 2017: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/28606694/syncope-in-brugada-syndrome-a-plea-for-thorough-anamnesis-and-eps-the-lessons-from-our-journey-in-the-region-of-piedmont-italy
#7
EDITORIAL
Bernard Belhassen, Anat Milman
No abstract text is available yet for this article.
August 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28597987/trafficking-and-localization-to-the-plasma-membrane-of-nav-1-5-promoted-by-the-%C3%AE-2-subunit-is-defective-due-to-a-%C3%AE-2-mutation-associated-with-brugada-syndrome
#8
Gemma Dulsat, Sonia Palomeras, Eric Cortada, Helena Riuró, Ramon Brugada, Marcel Vergés
BACKGROUND INFORMATION: Cardiac channelopathies arise by mutations in genes encoding ion channel subunits. One example is Brugada Syndrome (BrS), which causes arrhythmias and sudden death. BrS is often associated with mutations in SCN5A, encoding Nav 1.5, the α subunit of the major cardiac voltage-gated sodium channel. This channel forms a protein complex including one or two associated β subunits as well as other proteins. RESULTS: We analyzed regulation of Nav 1...
June 9, 2017: Biology of the Cell
https://www.readbyqxmd.com/read/28584071/scn5a-genetic-polymorphisms-associated-with-increased-defibrillator-shocks-in-brugada-syndrome
#9
Pattarapong Makarawate, Narumol Chaosuwannakit, Suda Vannaprasaht, Dujdao Sahasthas, Seok Hwee Koo, Edmund Jon Deoon Lee, Wichittra Tassaneeyakul, Hector Barajas-Martinez, Dan Hu, Kittisak Sawanyawisuth
BACKGROUND: Brugada syndrome (BrS) is an inherited primary arrhythmia disorder leading to sudden cardiac arrest. SCN5A, encoding the α-subunit of the cardiac sodium channel (Nav1.5), is the most common pathogenic gene of BrS. An implantable cardioverter defibrillator (ICD) is the standard treatment for secondary prevention. This study aimed to evaluate association of the SCN5A variant with this cardiac conduction disturbance and appropriate ICD shock therapy in Thai symptomatic BrS patients with ICD implants...
June 5, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28583685/usefulness-of-the-r-wave-sign-as-a-predictor-for-ventricular-tachyarrhythmia-in-patients-with-brugada-syndrome
#10
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Danielle E Burghouwt, Agnes J Q M Muskens, Natasja M S de Groot
Brugada syndrome (BrS) is an autosomal dominant channelopathy which is responsible for a large number of sudden cardiac deaths in young subjects without structural abnormalities. The most challenging step in management of patients with BrS is identifying who is at risk for developing malignant ventricular tachyarrhythmia (VTA). In patients with BrS, conduction delay in the right ventricular outflow tract (RVOT) causes a prominent R wave in lead aVR. This electrocardiographic parameter can be useful to detect these high-risk patients...
May 11, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28580152/brugada-phenocopy-in-a-patient-with-acute-pulmonary-embolism-presenting-with-recurrent-syncope
#11
Nixiao Zhang, Tong Liu, Gary Tse, Shuyu Yu, Huaying Fu, Gang Xu, Changyu Zhou, Chengzong Zhang, Guangping Li
Brugada phenocopy (BrP) refers to a group of clinical conditions that have etiologies distinct from Brugada syndrome (BrS). Although both demonstrate features of ST-segment elevation in the right precordial leads on the electrocardiogram (ECG), one must be distinguished from the other as their treatment options are different. We report a male patient who presented with recurrent syncope with a Brugada and a S1Q3T3 pattern on the ECG. Acute pulmonary embolism (APE) complicated by BrS was suspected. Twenty-four hours Holter monitoring did not demonstrate any evidence of ventricular arrhythmias...
May 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28557294/a-mechanism-for-nav-1-5-downregulation-and-sodium-current-decrease-in-heart-failure
#12
EDITORIAL
Sara Pagans, Marcel Vergés
The pore-forming α-subunit of the cardiac voltage-gated sodium channel, NaV 1.5, is responsible for the initial upstroke of the cardiac action potential. NaV 1.5 cell surface expression and function are modulated by its interaction with regulatory proteins and by posttranslational modifications, such as phosphorylation, arginine methylation or ubiquitination (1) . Genetic mutations in the SCN5A gene, which encodes NaV 1.5, have been associated with a variety of inherited cardiac arrhythmias, including long QT syndrome type 3, Brugada syndrome, atrial fibrillation, and congenital sick sinus syndrome...
May 30, 2017: Acta Physiologica
https://www.readbyqxmd.com/read/28552749/the-tpeak-tend-interval-as-an-electrocardiographic-risk-marker-of-arrhythmic-and-mortality-outcomes-a-systematic-review-and-meta-analysis
#13
Gary Tse, Mengqi Gong, Wing Tak Wong, Stamatis Georgopoulos, Konstantinos P Letsas, Vassilios S Vassiliou, Yat Sun Chan, Bryan P Yan, Sunny Hei Wong, William K K Wu, Ana Ciobanu, Guangping Li, Jayaprakash Shenthar, Ardan M Saguner, Sadeq Ali-Hasan-Al-Saegh, Aishwarya Bhardwaj, Abhishek C Sawant, Paula Whittaker, Yunlong Xia, Gan-Xin Yan, Tong Liu
BACKGROUND: The Tpeak - Tend interval (the interval from the peak to the end of the T wave), an electrocardiographic marker reflecting transmural dispersion of repolarization, has been used to predict ventricular tachycardia/fibrillation (VT/VF) and sudden cardiac death in different clinical settings. OBJECTIVE: This systematic review and meta-analysis evaluated the significance of the Tpeak - Tend interval in predicting arrhythmic and/or mortality end points. METHODS: PubMed, Embase, Cochrane Library, and CINAHL Plus databases were searched through November 30, 2016...
May 26, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28552050/readthrough-of-scn5a-nonsense-mutations-r1623x-and-s1812x-question-gene-therapy-in-brugada-syndrome
#14
Siyong Teng, Jian Huang, Zhan Gao, Jie Hao, Yuejin Yang, Shu Zhang, Jielin Pu, Rutai Hui, Yongjian Wu, Zheng Fan
PURPOSE: Readthrough of nonsense mutation are used as gene-specific treatment in some genetic disease. Response to readthrough treatment is determined by readthrough efficiency of various nonsense mutations. In this manuscript, we aimed to explore the harmful effect of nonsense mutation suppressions. METHODS: HEK293 cells were transfected with two SCN5A (encode cardiac Na+ channel) nonsense mutations, p.R1623X and p.S1812X. We applied two readthrough-enhancing methods (either aminoglycosides or by a siRNA targeting eukaryotic release factor eRF3a (a GTPase that binds eRF1)) to suppress these SCN5A nonsense mutations...
May 28, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28536668/brugada-syndrome-in-a-patient-with-vascular-ehlers-danlos-syndrome-sudden-death-risk-amplified
#15
Jason D'Souza, Divyanshu Malhotra, Aditya Goud, Chanukya Dahagam, George Everett
The vast majority of sudden cardiac arrests occur in patients with structural heart disease and in approximately 10% of the cases, it can occur in those with structurally normal hearts. Brugada syndrome is an autosomal dominant sodium channelopathy that has been implicated in sudden deaths. Given their low prevalence, our knowledge about Brugada syndrome is still evolving. Apart from schizophrenia, there have been no reports of associated medical conditions. We recently encountered a patient with vascular Ehlers-Danlos syndrome who was also found to have Brugada syndrome...
April 19, 2017: Curēus
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
#16
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...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28534204/-ventricular-arrhythmias-in-ion-channel-diseases
#17
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/28528724/twelve-lead-ambulatory-electrocardiographic-monitoring-in-brugada-syndrome-potential-diagnostic-and-prognostic-implications
#18
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
#19
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
#20
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
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