5,159 results match your criteria Brugada Syndrome


Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

J Am Coll Cardiol 2020 Jul;76(2):186-197

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Universidad Francisco de Vitoria, Pozuelo de Alarcon, Spain. Electronic address:

Background: PRKAG2 gene variants cause a syndrome characterized by cardiomyopathy, conduction disease, and ventricular pre-excitation. Only a small number of cases have been reported to date, and the natural history of the disease is poorly understood.

Objectives: The aim of this study was to describe phenotype and natural history of PRKAG2 variants in a large multicenter European cohort. Read More

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http://dx.doi.org/10.1016/j.jacc.2020.05.029DOI Listing

GSTM3 variant is a novel genetic modifier in Brugada syndrome, a disease with risk of sudden cardiac death.

EBioMedicine 2020 Jul 6;57:102843. Epub 2020 Jul 6.

Lankenau Institute for Medical Research and Lankenau Heart Institute, Wynnewood, PA and Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, PA, USA. Electronic address:

Background: Brugada syndrome (BrS) is a rare inherited disease causing sudden cardiac death (SCD). Copy number variants (CNVs) can contribute to disease susceptibility, but their role in Brugada syndrome (BrS) is unknown. We aimed to identify a CNV associated with BrS and elucidated its clinical implications. Read More

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http://dx.doi.org/10.1016/j.ebiom.2020.102843DOI Listing

Two patients with COVID-19 and a fever-induced Brugada-like electrocardiographic pattern.

Neth Heart J 2020 Jul 8. Epub 2020 Jul 8.

Heart Center, Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences Amsterdam, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.

Febrile states may unmask certain Brugada syndrome patients and precipitate ventricular arrhythmias. Here we describe two patients with COVID-19 who developed a fever-induced type 1 Brugada electrocardiographic pattern. Both patients did not show any ventricular arrhythmias during admission. Read More

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http://dx.doi.org/10.1007/s12471-020-01459-1DOI Listing

Young athletes' ECG: incomplete right bundle branch block vs crista supraventricularis pattern.

Scand J Med Sci Sports 2020 Jul 8. Epub 2020 Jul 8.

Department of Cardiology, Sports Medicine Center, Spanish Agency for Health Protection in Sports, Madrid, Spain.

Background: Incomplete right bundle branch block (IRBBB) is prevalent among athletes, but its etiology remains to be clearly elucidated and the commonly advocated mechanism, an intraventricular conduction delay, does not explain all cases. In the general population, an apparently similar phenomenon but with different pathophysiology and potential consequences, 'crista supraventricularis pattern' (CSP, defined as QRS≤100ms, S wave <40ms in I or V6 together with an RSR´ pattern in lead-V1) has been described. Yet, this manifestation has not been studied in athletes. Read More

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http://dx.doi.org/10.1111/sms.13763DOI Listing

Pathophysiology of Hyperkalemia Presenting as Brugada Pattern on Electrocardiogram (ECG).

Am J Case Rep 2020 Jul 8;21:e923464. Epub 2020 Jul 8.

Department of Emergency Medicine, University of Kentucky Hospital, Lexington, KY, USA.

BACKGROUND Brugada phenocopies (BrP) are clinical and electrocardiographic (ECG) entities elicited by reversible medical conditions speculated to have pathogenesis rooted in ion current imbalances or conduction delays within the myocardial wall. During an inciting pathologic condition, it produces ECG patterns identical to those of congenitally-acquired Brugada syndrome and subsequently returns to normal ECG patterns upon resolution of the medical condition. This case report describes a 26-year-old man presenting to the Emergency Department (ED) for suspected heroin overdose with a rare ECG consistent with BrP secondary to acute hyperkalemia. Read More

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http://dx.doi.org/10.12659/AJCR.923464DOI Listing

In Children and Adolescents From Brugada Syndrome-Families, Only Mutation Carriers Develop a Type-1 ECG Pattern Induced By Fever.

Circulation 2020 Jul 6;142(1):89-91. Epub 2020 Jul 6.

Department of Pediatric Cardiology, Emma Children's Hospital (P.J.P, N.A.B., A.S.V., S.-A.B.C.), Amsterdam University Medical Center, location Academic Medical Center (AMC), The Netherlands.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045720DOI Listing

Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand.

Heart Rhythm 2020 Jun 30. Epub 2020 Jun 30.

Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand; Pacific Rim Electrophysiology Research Institute, Bumrungrad Hospital, Bangkok, Thailand.

Background: Mutations in SCN5A are rarely found in Thai patients with Brugada syndrome (BrS). Recent evidence suggested that common genetic variation may underlie BrS in a complex inheritance model.

Objective: To find common and rare/low frequency genetic variants predisposing to BrS in Thailand. Read More

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http://dx.doi.org/10.1016/j.hrthm.2020.06.027DOI Listing

Brugada Pattern Type 2 Diagnosis Unmasked by Aspiration Pneumonia.

Cureus 2020 May 28;12(5):e8331. Epub 2020 May 28.

Cardiology, Detroit Medical Center, Detroit, USA.

Brugada syndrome (BrS) is a rare autosomal dominant mutation affecting sodium channels. Electrocardiography can show two Brugada patterns (BrP). Type 1 BrP usually causes sudden cardiac arrest (SCA). Read More

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http://dx.doi.org/10.7759/cureus.8331DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7325341PMC

Postoperative supraventricular tachycardia and polymorphic ventricular tachycardia due to a novel SCN5A variant: a case report of a rare comorbidity that is difficult to diagnose.

BMC Cardiovasc Disord 2020 Jul 2;20(1):315. Epub 2020 Jul 2.

Center for Epidemiologic Research in Asia, Shiga University of Medical Science, Otsu, 520-2192, Japan.

Background: Loss-of-function mutations of human cardiac sodium channel gene SCN5A induce a wide range of arrhythmic disorders. Mutation carriers with co-existing conditions such as congenital heart diseases and histories of cardiac surgeries, could develop complex arrhythmic events that are difficult to diagnose.

Case Presentation: A 41-year-old Japanese male with a history of a surgical closure of an ASD presented impairment of consciousness by wide QRS tachycardia. Read More

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http://dx.doi.org/10.1186/s12872-020-01601-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333335PMC

The 10-Year Prognosis and Prevalence of Brugada-Type Electrocardiograms in Elderly Women: A Longitudinal Nationwide Community-Based Prospective Study.

J Cardiovasc Nurs 2020 Jun 23. Epub 2020 Jun 23.

Sherri Shih-Fan Yeh, MD Attending physician, Department of Environmental and Occupational Medicine, National Taiwan University Hospital Hsin-Chu Branch, Hsin-Chu, Taiwan. Ching-Yu Julius Chen, MD Attending physician, Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. I-Chien Wu, MD, PhD Assistant investigator, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Taiwan. Chih-Cheng Hsu, MD, PhD Deputy director, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Taiwan. Tzu-Yu Chen, PhD Postdoctoral researcher, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Taiwan. Wei-Ting Tseng, PhD Postdoctoral researcher, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Taiwan. Feng-Cheng Tang, MD, PhD Associate professor, Department of Occupational Medicine, Changhua Christian Hospital, Changhua, Taiwan Chi-Chung Wang, MD, PhD Attending physician, Department of Family Medicine, Mennonite Christian Hospital, Hualien, Taiwan. Chung-Chou Juan, MD, PhD Associate professor, Department of Surgery, Yuan's General Hospital, Kaohsiung, Taiwan. Hou-Chang Chiu, MD, PhD Professor, Department of Neurology, Shin Kong Wu Ho Su Memorial Hospital, Taipei, and College of Medicine, Fu-Jen Catholic University, New Taipei City, Taiwan. Huey-Ming Lo, MD, PhD Professor, Section of cardiology, Department of Internal Medicine, Shin Kong Wu Ho-Su Memorial Hospital, Taipei, and School of Medicine, Fu-Jen Catholic University, New Taipei City, Taiwan. Dun-Hui Yang, MD Attending physician, Department of Radiology, Tainan Municipal Hospital, Tainan, Taiwan. Jyh-Ming Jimmy Juang, MD, PhD Associate professor, Cardiovascular Center and Division of Cardiology, Department of Internal Medicine, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan. Chao Agnes Hsiung, PhD Director, Institute of Population Health Sciences, National Health Research Institutes, Zhunan, Taiwan.

Background: Brugada syndrome is a disorder associated with sudden cardiac death and characterized by an abnormal electrocardiogram (ECG). Previous studies were predominantly conducted in men, and the data on long-term prognosis are limited. Information about women, especially elderly women, is lacking. Read More

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http://dx.doi.org/10.1097/JCN.0000000000000722DOI Listing

Unmasking of Brugada syndrome in a patient with Coronavirus disease 2019 (COVID-19).

Acta Cardiol 2020 Jul 1:1-2. Epub 2020 Jul 1.

Department of Cardiology, St Joseph Regional Medical Center, Paterson, NJ, USA.

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http://dx.doi.org/10.1080/00015385.2020.1761583DOI Listing

A fatal adverse event upon adenotonsillectomy in a child. Are Brugada syndrome and propofol real accomplices?

Cardiol Young 2020 Jul 1:1-2. Epub 2020 Jul 1.

Institute of Applied Health Sciences, Epidemiology Group, School of Medicine, Medical Sciences and Nutrition, University of Aberdeen, Department of Anaesthesia, NHS Grampian, Aberdeen, UK.

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http://dx.doi.org/10.1017/S1047951120001754DOI Listing

Electromechanical delay by speckle-tracking echocardiography: A novel tool to distinguish between Brugada syndrome and isolated right bundle branch block.

Int J Cardiol 2020 Jun 27. Epub 2020 Jun 27.

Department of Medical Biotechnologies, Division of Cardiology, University of Siena, Siena, Italy.

Background: The electrocardiographic (ECG) definition of Brugada syndrome (BS) can be challenging because benign ECG abnormalities, such as right bundle branch block (RBBB), may mimic pathological ECG characteristics of BrS. However, although myocardial delay and deformation can be quantified by advanced imaging, it has not yet been used to differentiate between BrS and RBBB. The aim of this study was to characterize the electro-mechanical behavior of the heart of patients with type-1 BrS and isolated complete RBBB in order to differentiate these conditions. Read More

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http://dx.doi.org/10.1016/j.ijcard.2020.06.029DOI Listing

Prevalence of sudden arrhythmic death syndrome-related genetic mutations in an Asian cohort of whole genome sequence.

Europace 2020 Jun 28. Epub 2020 Jun 28.

Division of Cardiology, Department of Internal Medicine and Cardiovascular center, National Taiwan University College of Medicine and Hospital, No. 7, Chung-Shan South Road, Taipei 100, Taiwan.

Aims: Recently, the spectrum of background mutation in the genes implicated in sudden arrhythmic death syndrome (SADS), has been elucidated in the Caucasian populations. However, this information is largely unknown in the Asian populations.

Methods And Results: We assessed the background rare variants (minor allele frequency < 0. Read More

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http://dx.doi.org/10.1093/europace/euaa092DOI Listing

Telethonin variants found in Brugada syndrome, J-wave pattern ECG, and ARVC reduce peak Na 1.5 currents in HEK-293 cells.

Pacing Clin Electrophysiol 2020 Jun 25. Epub 2020 Jun 25.

Department of Medicine, Krannert Institute of Cardiology, Indiana University School of Medicine, Indianapolis, Indiana.

Background: Telethonin (TCAP) is a Z-disk protein that maintains cytoskeletal integrity and various signaling pathways in cardiomyocytes. TCAP is shown to modulate α-subunit of the human cardiac sodium channel (hNa 1.5) by direct interactions. Read More

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http://dx.doi.org/10.1111/pace.13996DOI Listing

The utility of drug challenge testing in Brugada syndrome: A systematic review and meta-analysis.

J Cardiovasc Electrophysiol 2020 Jun 23. Epub 2020 Jun 23.

Department of Internal Medicine, Frankel Cardiovascular Center, Michigan Medicine, University of Michigan, Ann Arbor, Michigan.

Introduction: Brugada syndrome (BrS) is associated with ventricular arrhythmia leading to sudden cardiac death. Risk stratification is challenging, as major arrhythmic events (MAEs) are rare. We assessed the utility of drug challenge testing in BrS by a systematic review and meta-analysis. Read More

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http://dx.doi.org/10.1111/jce.14631DOI Listing

E1784K, the most common Brugada syndrome and long-QT syndrome type 3 mutant, disrupts sodium channel inactivation through two separate mechanisms.

J Gen Physiol 2020 Sep;152(9)

Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC, Canada.

Inheritable and de novo variants in the cardiac voltage-gated sodium channel, Nav1.5, are responsible for both long-QT syndrome type 3 (LQT3) and Brugada syndrome type 1 (BrS1). Interestingly, a subset of Nav1. Read More

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http://dx.doi.org/10.1085/jgp.202012595DOI Listing
September 2020

A Bayesian method to estimate variant-induced disease penetrance.

PLoS Genet 2020 Jun 22;16(6):e1008862. Epub 2020 Jun 22.

Department of Biostatistics Vanderbilt University, Nashville, Tennessee, United States of America.

A major challenge emerging in genomic medicine is how to assess best disease risk from rare or novel variants found in disease-related genes. The expanding volume of data generated by very large phenotyping efforts coupled to DNA sequence data presents an opportunity to reinterpret genetic liability of disease risk. Here we propose a framework to estimate the probability of disease given the presence of a genetic variant conditioned on features of that variant. Read More

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http://dx.doi.org/10.1371/journal.pgen.1008862DOI Listing

A highly specific biomarker for Brugada syndrome. Also too good to be true?

Eur Heart J 2020 Jun 19. Epub 2020 Jun 19.

Heart Centre, Department of Clinical and Experimental Cardiology, Academic University Medical Centre, location AMC, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/eurheartj/ehaa468DOI Listing

Electrocardiographic imaging of the arrhythmogenic substrate of Brugada syndrome: Current evidence and future perspectives.

Trends Cardiovasc Med 2020 Jun 15. Epub 2020 Jun 15.

Heart Rhythm Management Centre, Universitair Ziekenhuis Brussel, Postgraduate Program in Cardiac Electrophysiology and Pacing, European Reference Networks Guard-Heart, Vrije Universiteit Brussel, Belgium. Electronic address:

Brugada syndrome is responsible for about 20% of sudden cardiac deaths in patients with apparently normal hearts. Basic and clinical research has elucidated some of the mechanisms that are responsible for life-threatening ventricular arrhythmias in this syndrome. Delays in activation and repolarization over the right ventricular outflow tract are the most likely cause of the ECG typical pattern and arrhythmogenesis. Read More

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http://dx.doi.org/10.1016/j.tcm.2020.06.004DOI Listing

Cannabinoid-Induced Brugada Syndrome: A Case Report.

Cureus 2020 Jun 14;12(6):e8615. Epub 2020 Jun 14.

Cardiology, Cape Fear Valley Health System, Fayetteville, USA.

Brugada syndrome, also called Pokkuri Death Syndrome, is an autosomal dominant electrophysiological phenomenon that increases the risk of spontaneous ventricular tachyarrhythmia and sudden cardiac death. Due to sodium channel mutations in the cardiac membrane, most commonly SCN5A and SCN10A, the heart can be triggered into a fatal arrhythmia. Brugada syndrome can be triggered by fever, and medications including antiarrhythmics, psychotropics, and recreational drugs like cocaine and marijuana. Read More

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http://dx.doi.org/10.7759/cureus.8615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7294878PMC

Ankyrins in human health and disease - an update of recent experimental findings.

Arch Med Sci 2020 18;16(4):715-726. Epub 2019 Nov 18.

Laboratory of Gastroimmunology, Department of Immunology and Infectious Biology, Faculty of Biology and Environmental Protection, University of Lodz, Lodz, Poland.

Ankyrins are adaptor molecules that in eukaryotic cells form complexes with ion channel proteins, cell adhesion and signalling molecules and components of the cytoskeleton. They play a pivotal role as scaffolding proteins, in the structural anchoring to the muscle membrane, in muscle development, neurogenesis and synapse formation. Dysfunction of ankyrins is implicated in numerous diseases such as hereditary spherocytosis, neurodegeneration of Purkinje cells, cardiac arrhythmia, Brugada syndrome, bipolar disorders and schizophrenia, congenital myopathies and congenital heart disease as well as cancers. Read More

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http://dx.doi.org/10.5114/aoms.2019.89836DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7286341PMC
November 2019

Remifentanil labor analgesia in a parturient with Brugada syndrome.

Korean J Anesthesiol 2020 Jun 15. Epub 2020 Jun 15.

Department of Anaesthesia, Saint Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, M13 9WL, United Kingdom.

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http://dx.doi.org/10.4097/kja.20272DOI Listing

High-Throughput Reclassification of SCN5A Variants.

Am J Hum Genet 2020 Jul 12;107(1):111-123. Epub 2020 Jun 12.

Vanderbilt Center for Arrhythmia Research and Therapeutics, Division of Clinical Pharmacology, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Department of Pharmacology, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA. Electronic address:

Partial or complete loss-of-function variants in SCN5A are the most common genetic cause of the arrhythmia disorder Brugada syndrome (BrS1). However, the pathogenicity of SCN5A variants is often unknown or disputed; 80% of the 1,390 SCN5A missense variants observed in at least one individual to date are variants of uncertain significance (VUSs). The designation of VUS is a barrier to the use of sequence data in clinical care. Read More

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http://dx.doi.org/10.1016/j.ajhg.2020.05.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7332654PMC

An autoantibody profile detects Brugada syndrome and identifies abnormally expressed myocardial proteins.

Eur Heart J 2020 Jun 12. Epub 2020 Jun 12.

Department of Pediatrics, The Labatt Family Heart Centre and Translational Medicine, The Hospital for Sick Children & Research Institute and the University of Toronto, Room 1725D, 555 University Avenue, Toronto, ON M5G 1X8, Canada.

Aims: Brugada syndrome (BrS) is characterized by a unique electrocardiogram (ECG) pattern and life-threatening arrhythmias. However, the Type 1 Brugada ECG pattern is often transient, and a genetic cause is only identified in <25% of patients. We sought to identify an additional biomarker for this rare condition. Read More

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http://dx.doi.org/10.1093/eurheartj/ehaa383DOI Listing
June 2020
15.203 Impact Factor

Lamotrigine induced Brugada-pattern in a patient with genetic epilepsy associated with a novel variant in SCN9A.

Gene 2020 Jun 9;754:144847. Epub 2020 Jun 9.

Cardiovascular Genetics Center, University of Girona-IDIBGI, Girona, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; Medical Science Department, School of Medicine, University of Girona, Girona, Spain; Cardiology Service, Hospital JosepTrueta, University of Girona, Girona, Spain. Electronic address:

Background: A 30-year-old man presented with intellectual disability associated with epilepsy. The epilepsy was initially treated with sodium valproate and since he was 28 years-old with lamotrigine. With the addition of lamotrigine, a pattern of Brugada syndrome appeared on the electrocardiogram. Read More

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http://dx.doi.org/10.1016/j.gene.2020.144847DOI Listing

Transient Brugada Pattern Induced by Loperamide Abuse.

Cureus 2020 May 9;12(5):e8037. Epub 2020 May 9.

Surgery, St. Joseph's University Medical Center, Paterson, USA.

Brugada syndrome (BrS) is classically a malignant, genetically determined, arrhythmic syndrome manifesting as syncope or sudden cardiac death (SCD) in individuals with structurally normal hearts.An exceedingly rare cause of an induced electrocardiogram (ECG) pattern mimicking BrS is secondary to loperamide abuse. The following case describes the onset of a transient Brugada pattern secondary to loperamide abuse in a young healthy male. Read More

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http://dx.doi.org/10.7759/cureus.8037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7282371PMC

Epidural analgesia in a parturient with Brugada syndrome.

J Clin Anesth 2020 Jun 8;66:109944. Epub 2020 Jun 8.

Department of Anesthesiology, Naval Medical Center San Diego, 34800 Bob Wilson Drive, San Diego, CA 92134, USA.

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http://dx.doi.org/10.1016/j.jclinane.2020.109944DOI Listing

Right ventricular electromechanical abnormalities in Brugada syndrome: is this a cardiomyopathy?

Eur Heart J Suppl 2020 Jun 25;22(Suppl E):E101-E104. Epub 2020 Mar 25.

Arrhythmology and Electrophysiology Department, IRCCS Policlinico San Donato, San Donato Milanese, Milano, Italy.

Brugada syndrome (BrS) has been often described as a purely electrical disease. However, current dogma surrounding this concept has shifted to accept that BrS is associated with structural abnormalities. Brugada syndrome is now associated with epicardial surface and interstitial fibrosis, reduced gap junction expression, increased collagen, and reduced contractility. Read More

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http://dx.doi.org/10.1093/eurheartj/suaa071DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7270919PMC

[Sinus node dysfunction, Brugada syndrome and long QT syndrome affecting the same patient : when genetics can't make head or tail of it].

Rev Med Suisse 2020 Jun;16(696):1148-1152

Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.

The gene SCN5A encodes the cardiac sodium channel which, through the conduction of Na+ current into the cell, generates the fast upstroke of the action potential of cardiomyocytes. Pathogenic variants of SCN5A have been causally associated to several hereditary cardiac diseases including, among others, Brugada syndrome, congenital long QT syndrome and sinus node dysfunction. Recently, overlap syndromes have been described that are characterized by the simultaneous expression of mixed clinical phenotypes among two or more hereditary cardiac diseases associated to the gene SCN5A (HCD-SCN5A). Read More

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Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated with Brugada Syndrome: SADS-TW BrS Registry.

Circ Genom Precis Med 2020 Jun 3. Epub 2020 Jun 3.

Departments of Cardiovascular Medicine (Division of Heart Rhythm Services), Pediatric and Adolescent Medicine (Division of Pediatric Cardiology), and Molecular Pharmacology & Experimental Therapeutics (Windland Smith Rice Sudden Death Genomics Laboratory), Mayo Clinic, Rochester, MN.

- Brugada syndrome (BrS) is an oligogenic arrhythmic disease with increased risk of sudden cardiac arrest (SCA). Several BrS or ECG traits-related single nucleotide polymorphisms (SNPs) were identified through previous genome-wide association studies in Caucasian patients. We aimed to validate these SNPs in BrS patients in the Taiwanese population, assessing the cumulative effect of risk alleles and the BrS polygenic risk score (BrS-PRS) in predicting cardiac events. Read More

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http://dx.doi.org/10.1161/CIRCGEN.119.002797DOI Listing

Tpeak-Tend, Tpeak-Tend dispersion and Tpeak-Tend/QT in children and its relationship with clinical variables.

Colomb Med (Cali) 2019 Dec 30;50(4):252-260. Epub 2019 Dec 30.

Universidad Central Marta Abreu de las Villas, Facultad de Ingeniería Eléctrica, Centro de Desarrollo Electrónico. Santa Clara, Villa Clara. Cuba.

Aim: To characterize the Tpeak-Tend, the Tpeak-Tend dispersion and Tpeak-Tend/QT in children and its relationship with clinical variables.

Methods: Cross-sectional study in 126 children between 9 and 12 years of the Camilo Cienfuegos School in Santa Clara, Cuba. Clinical and anthropometric variables were obtained to determine their relationship with electrocardiographic parameters: Tpeak-Tend V5, Tpeak-Tend dispersion and Tpeak-Tend/QT ratio V5. Read More

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http://dx.doi.org/10.25100/cm.v50i4.4199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7232943PMC
December 2019

Double Anomalies: Brugada Syndrome Presenting with a Persistent Left Superior Vena Cava.

Am J Case Rep 2020 May 30;21:e923633. Epub 2020 May 30.

Heart and Vascular Center, Cardiology Department, Mater Private Hospital, Dublin, Ireland.

BACKGROUND The presentation of Brugada syndrome (BrS) with a persistent left superior vena cava (PLSVC) is expected to be a rare entity. It is unknown if this venous anomaly is linked to the arrhythmogenesis seen in BrS, or it is coincidental. This case describes a clinical presentation of the 2, in tandem, and displays the anomaly in association with BrS. Read More

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http://dx.doi.org/10.12659/AJCR.923633DOI Listing

A Population-Based Registry of Patients With Inherited Cardiac Conditions and Resuscitated Cardiac Arrest.

J Am Coll Cardiol 2020 Jun;75(21):2698-2707

Greenlane Paediatric and Congenital Cardiac Services, Starship Children's Hospital, Auckland, New Zealand; Cardiac Inherited Disease Group, Auckland, New Zealand; Department of Paediatrics Child and Youth Health, University of Auckland, Auckland, New Zealand. Electronic address:

Background: The relative proportion of each cardiac inherited disease (CID) causing resuscitated sudden cardiac arrest (RSCA) on a population basis is unknown.

Objectives: This study describes the profile of patients with CIDs presenting with RSCA; their data were collected by the national Cardiac Inherited Diseases Registry New Zealand (CIDRNZ).

Methods: Data were collated from CIDRNZ probands presenting with RSCA (2002 to 2018). Read More

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http://dx.doi.org/10.1016/j.jacc.2020.04.004DOI Listing

Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated Mutation.

Genes (Basel) 2020 May 20;11(5). Epub 2020 May 20.

Cardiac Arrhythmia Research Centre, Centro Cardiologico Monzino IRCCS, 20141 Milan, Italy.

Plakophilin-2 () is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural alterations are frequently reported, mainly in the early phases of the disease. Recently, the p. Read More

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http://dx.doi.org/10.3390/genes11050571DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7288341PMC

Chronic thromboembolic pulmonary hypertension secondary to implantable cardioverter defibrillator lead thrombus in a patient with Brugada syndrome: a rare complication requiring a multidisciplinary approach.

BMJ Case Rep 2020 May 19;13(5). Epub 2020 May 19.

Pulmonary Hypertension Unit, Department of Cardiology, Hospital Garcia de Orta, Almada, Portugal.

We report the case of a 57-year-old male patient with prior syncope associated with sustained ventricular tachycardia in the setting of Brugada syndrome, who was submitted to implantation of a cardioverter defibrillator for secondary prevention. During follow-up, he presented a significant increase in lead impedance, and a transthoracic echocardiogram showed a mass attached to the lead. He was started on oral anticoagulation after infective endocarditis was excluded but nevertheless suffered repeated episodes of pulmonary embolism that led to severe chronic thromboembolic pulmonary hypertension. Read More

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http://dx.doi.org/10.1136/bcr-2020-234549DOI Listing

The role of the autonomic nervous system in cardiac arrhythmias: The neuro-cardiac axis, more foe than friend?

Trends Cardiovasc Med 2020 May 17. Epub 2020 May 17.

Athens University School of Medicine, Athens, Greece. Electronic address:

The autonomic nervous system (ANS) with its two limbs, the sympathetic (SNS) and parasympathetic nervous system (PSNS), plays a critical role in the modulation of cardiac arrhythmogenesis. It can be both pro- and/or anti-arrhythmic at both the atrial and ventricular level of the myocardium. Intricate mechanisms, different for specific cardiac arrhythmias, are involved in this modulatory process. Read More

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http://dx.doi.org/10.1016/j.tcm.2020.04.011DOI Listing

Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.

Authors:
Najim Lahrouchi Rafik Tadros Lia Crotti Yuka Mizusawa Pieter G Postema Leander Beekman Roddy Walsh Kanae Hasegawa Julien Barc Marko Ernsting Kari L Turkowski Andrea Mazzanti Britt M Beckmann Keiko Shimamoto Ulla-Britt Diamant Yanushi D Wijeyeratne Yu Kucho Tomas Robyns Taisuke Ishikawa Elena Arbelo Michael Christiansen Annika Winbo Reza Jabbari Steven A Lubitz Johannes Steinfurt Boris Rudic Bart Loeys M Ben Shoemaker Peter E Weeke Ryan Pfeiffer Brianna Davies Antoine Andorin Nynke Hofman Federica Dagradi Matteo Pedrazzini David J Tester J Martijn Bos Georgia Sarquella-Brugada Óscar Campuzano Pyotr G Platonov Birgit Stallmeyer Sven Zumhagen Eline A Nannenberg Jan H Veldink Leonard H van den Berg Ammar Al-Chalabi Christopher E Shaw Pamela J Shaw Karen E Morrison Peter M Andersen Martina Müller-Nurasyid Daniele Cusi Cristina Barlassina Pilar Galan Mark Lathrop Markus Munter Thomas Werge Marta Ribasés Tin Aung Chiea C Khor Mineo Ozaki Peter Lichtner Thomas Meitinger J Peter van Tintelen Yvonne Hoedemaekers Isabelle Denjoy Antoine Leenhardt Carlo Napolitano Wataru Shimizu Jean-Jacques Schott Jean-Baptiste Gourraud Takeru Makiyama Seiko Ohno Hideki Itoh Andrew D Krahn Charles Antzelevitch Dan M Roden Johan Saenen Martin Borggrefe Katja E Odening Patrick T Ellinor Jacob Tfelt-Hansen Jonathan R Skinner Maarten P van den Berg Morten Salling Olesen Josep Brugada Ramón Brugada Naomasa Makita Jeroen Breckpot Masao Yoshinaga Elijah R Behr Annika Rydberg Takeshi Aiba Stefan Kääb Silvia G Priori Pascale Guicheney Hanno L Tan Christopher Newton-Cheh Michael J Ackerman Peter J Schwartz Eric Schulze-Bahr Vincent Probst Minoru Horie Arthur A Wilde Michael W T Tanck Connie R Bezzina

Circulation 2020 May 20. Epub 2020 May 20.

Amsterdam UMC, University of Amsterdam, Heart Center; Department of Clinical and Experimental Cardiology, Amsterdam Cardiovascular Sciences, Meibergdreef 9, Amsterdam, The Netherlands; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart - ERN GUARD-Heart.

Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). Read More

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http://dx.doi.org/10.1161/CIRCULATIONAHA.120.045956DOI Listing
May 2020
14.430 Impact Factor

Brugada Syndrome: Presentation and Management of the Atypical Patient in the Emergent Setting.

Clin Pract Cases Emerg Med 2020 May 14;4(2):251-254. Epub 2020 Apr 14.

Burrell College of Osteopathic Medicine at New Mexico State University, Department of Emergency Medicine, Las Cruces, New Mexico.

Introduction: Brugada syndrome is a genetic disorder of the heart's electrical system that increases a patient's risk of sudden cardiac death. It is a syndrome most prevalent in Southeast Asians and is found 36 times more commonly in Asians than in Hispanics.

Case Report: We report and discuss a case of a 68-year-old Hispanic male who presented with clinical and electrocardiogram abnormalities consistent with Brugada syndrome. Read More

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http://dx.doi.org/10.5811/cpcem.2020.1.44675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220024PMC

Fever Unmasked Brugada Syndrome in Pediatric Patient: A Case Report.

Clin Pract Cases Emerg Med 2020 May 23;4(2):244-246. Epub 2020 Apr 23.

Midwestern University, Department of Emergency Medicine, Downers Grove, Illinois.

Introduction: Brugada syndrome is an arrhythmogenic disorder that is a known cause of sudden cardiac death. It is characterized by a pattern of ST segment elevation in the precordial leads on an electrocardiogram (EKG) due to a sodium channelopathy.

Case Report: This case report highlights the case of a five-year-old female who presented to the emergency department with a febrile viral illness and had an EKG consistent with Brugada syndrome. Read More

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http://dx.doi.org/10.5811/cpcem.2020.2.44418DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7220012PMC

Patients with Genetic Heart Disease and COVID-19: A Cardiac Society of Australia and New Zealand (CSANZ) Consensus Statement.

Heart Lung Circ 2020 Apr 30. Epub 2020 Apr 30.

Waikato Hospital, Hamilton, New Zealand.

In the context of the current global COVID-19 pandemic, this Consensus Statement provides current recommendations for patients with, or at risk of developing, genetic heart disease, and for their health care management and service provision in Australia and New Zealand. Apart from general recommendations, there are specific recommendations for the following conditions: cardiomyopathy, Brugada syndrome (including in children), long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). Other recommendations are relevant to patient self-care and primary health care. Read More

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http://dx.doi.org/10.1016/j.hlc.2020.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7192105PMC

QT interval greater than 460 ms in multiple electrocardiograms during follow-up in patients with Brugada syndrome: What does it contribute?

Rev Port Cardiol 2020 Apr 13;39(4):183-186. Epub 2020 May 13.

Department of Cardiology, Cardiovascular Institute of Havana, Cuba.

Introduction: Corrected QT interval (QTc) >460 ms in the right precordial leads has been described as a predictor of malignant ventricular arrhythmias (MVA) in patients with Brugada syndrome (BrS).

Objective: To assess the presence of QTc>460 ms in multiple electrocardiograms (ECGs) during follow-up as a predictor of recurrence of MVA in patients with BrS.

Methods: The study group included 43 patients with BrS and an implantable cardioverter-defibrillator. Read More

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http://dx.doi.org/10.1016/j.repc.2019.07.009DOI Listing

Incidence and predictors of atrial fibrillation in a Chinese cohort of Brugada syndrome.

Int J Cardiol 2020 Sep 7;314:54-57. Epub 2020 May 7.

Xiamen Cardiovascular Hospital, Xiamen University, Xiamen, PR China. Electronic address:

Background: Atrial electrophysiological abnormalities have previously been reported in Brugada syndrome. We investigated the incidence and electrocardiographic predictors of atrial fibrillation (AF) in a Chinese cohort of Brugada syndrome patients.

Methods: A retrospective study of Brugada syndrome patients admitted to tertiary centers in Hong Kong. Read More

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http://dx.doi.org/10.1016/j.ijcard.2020.05.007DOI Listing
September 2020

Insights into the challenging risk stratification of Brugada syndrome: A complex puzzle to solve.

Authors:
Mário Oliveira

Rev Port Cardiol 2020 Apr 4;39(4):187-188. Epub 2020 May 4.

Associate Editor of the Portuguese Journal of Cardiology; Hospital Santa Marta; Hospital CUF Infante Santo, Lisbon, Portugal; Institute of Physiology, Centro Cardiovascular da Universidade de Lisboa, Faculty of Medicine of Lisbon, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.repc.2020.04.003DOI Listing

The development of Brugada syndrome phenotype is multifactorial, combining genetic and environmental factors.

Eur Rev Med Pharmacol Sci 2020 Apr;24(7):3444-3445

Division of Cardiology, Onassis Cardiac Surgery Center, Athens, Greece.

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http://dx.doi.org/10.26355/eurrev_202004_20799DOI Listing

Outcome of Insertable Cardiac Monitors in Symptomatic Patients with Brugada Syndrome at Low Risk of Sudden Cardiac Death.

Cardiology 2020 22;145(7):413-420. Epub 2020 Apr 22.

Department of Cardiology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands,

Introduction: There is limited data on the experience with insertable cardiac monitors (ICMs) in patients with Brugada syndrome.

Objective: To evaluate the outcome of ICM in symptomatic patients with Brugada syndrome who are at suspected low risk of sudden cardiac death (SCD).

Methods: We conducted a prospective single-center cohort study including all symptomatic patients with Brugada syndrome who received an ICM (Reveal LINQ) between July 2014 and October 2019. Read More

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http://dx.doi.org/10.1159/000507075DOI Listing
April 2020
2.044 Impact Factor

The Known into the Unknown: Brugada syndrome and COVID-19.

JACC Case Rep 2020 Apr 16. Epub 2020 Apr 16.

Scientific Director, Cardiovascular Division Free University of Brussels (UZ Brussel) VUB, CEO Medical Centre Prof. Brugada, Aalst, Belgium, Director, Arrhythmia Unit, Hospiten Estepona, Marbella, Spain.

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http://dx.doi.org/10.1016/j.jaccas.2020.04.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7162640PMC

Diagnostic challenges of Brugada Syndrome in pediatric patients.

J Electrocardiol 2020 May - Jun;60:72-76. Epub 2020 Mar 31.

Departamento de Electrofisiología, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de México, Mexico. Electronic address:

Although most cases of Brugada syndrome have been described in adults, pediatric patients with the disease have been reported since the original article from Josep and Pedro Brugada. Herein is presented the case series of Brugada syndrome in pediatric population of the National Institute of Cardiology Ignacio Chavez. One boy and two adolescent males had palpitations as clinical presentation of the disease. Read More

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http://dx.doi.org/10.1016/j.jelectrocard.2020.03.012DOI Listing