keyword
https://read.qxmd.com/read/38299604/type-i-brugada-pattern-in-a-febrile-patient-following-covid-19-vaccination-booster
#21
JOURNAL ARTICLE
Robert Cacdac, Anthony Lim, Jonathan Ghazaleh, Shiva Salmasi, Sayna Poursadrolah, Monica Jordan, Andrew Rubin
There have been studies published regarding the association between developing Brugada syndrome after an acute COVID-19 infection. In this case, we present a patient who presented with a syncopal episode and subsequently found to have Type I Brugada pattern on electrocardiogram. The patient underwent placement of a single chamber defibrillator. Genetic analysis demonstrated SCN5A variant which is associated with cardiac conditions including Brugada syndrome.
2024: Journal of Investigative Medicine High Impact Case Reports
https://read.qxmd.com/read/38296574/errata-rare-compound-heterozygous-missense-mutation-of-the-scn5a-gene-with-childhood-onset-sick-sinus-syndrome-in-two-chinese-sisters-a-case-report
#22
JOURNAL ARTICLE
(no author information available yet)
An error appeared in the article entitled "Rare Compound Heterozygous Missense Mutation of the SCN5A Gene with Childhood-Onset Sick Sinus Syndrome in Two Chinese Sisters: A Case Report" by Yanyun Wang, Siyu Long, Chenxi Wei, and Xiaoqin Wang (Vol. 64 No.2, 299-305, 2023). The name of the first affiliation on page 299 was wrong. It should be "Laboratory of Molecular Translational Medicine, Center for Translational Medicine, West China Second University Hospital, Sichuan University, Chengdu, China" and not "Laboratory of Molecular Translational Medicine, Center for Translational Medicine, Sichuan University, Chengdu, China"...
2024: International Heart Journal
https://read.qxmd.com/read/38294864/the-beneficial-role-of-telemedicine-for-arrhythmic-risk-stratification-in-asymptomatic-brugada-syndrome-an-exemplary-case-report
#23
JOURNAL ARTICLE
Vincenzo Ezio Santobuono, Maria Cristina Carella, Andrea Igoren Guaricci, Eugenio Carulli, Paolo Basile, Marco Maria Dicorato, Marco Matteo Ciccone, Cinzia Forleo
Telemedicine and remote monitoring devices, including implantable loop recorders (ILR), are increasingly adopted in the cardiologic setting. These are valuable tools in the arrhythmic stratification of patients at risk of sudden cardiac death, providing a tailored therapeutic management to prevent lethal arrhythmias. We report a case of an asymptomatic 18-year-old boy with a family history of syncope and cardiac arrest, who had a diagnosis of Brugada syndrome with an inducible type 1 pattern and carrier of a missense mutation of the SCN5A gene...
January 31, 2024: Telemedicine Journal and E-health
https://read.qxmd.com/read/38252933/high-risk-brugada-syndrome-factors-associated-with-arrhythmia-recurrence-and-benefits-of-epicardial-ablation-in-addition-to-icd-implantation
#24
JOURNAL ARTICLE
Vincenzo Santinelli, Giuseppe Ciconte, Francesco Manguso, Luigi Anastasia, Emanuele Micaglio, Zarko Calovic, Gabriele Vicedomini, Beniamino Mazza, Mattia Vecchi, Valerio Mecarocci, Emanuela T Locati, Antonio Boccellino, Gabriele Negro, Antonio Napolano, Luigi Giannelli, Carlo Pappone
AIMS: This study aims to evaluate the prognostic impact of the arrhythmogenic substrate size in symptomatic Brugada Syndrome (BrS) as well as to validate the long-term safety and effectiveness of epicardial radiofrequency ablation (RFA) compared to No-RFA group. METHODS AND RESULTS: In this prospective investigational long-term registry study, 257 selected symptomatic BrS patients with ICD implantation were included. Among them, 206 patients underwent radiofrequency epicardial ablation (RFA) and were monitored for over 5 years post-ablation (RFA group) while 51 patients received only ICD implantation declining RFA...
January 22, 2024: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://read.qxmd.com/read/38244712/the-kir2-1-na-v-1-5-channelosome-and-its-role-in-arrhythmias-in-inheritable-cardiac-diseases
#25
REVIEW
Lilian K Gutiérrez, Ana I Moreno-Manuel, José Jalife
Sudden cardiac death in children and young adults is a relatively rare but tragic event whose pathophysiology is unknown at the molecular level. Evidence indicates that the main cardiac sodium channel (NaV 1.5) and the strong inward rectifier potassium channel (Kir2.1) physically interact and form macromolecular complexes (channelosomes) with common partners, including adapter, scaffolding and regulatory proteins that help them traffic together to their eventual membrane microdomains. Most important, dysfunction of either or both ion channels has direct links to hereditary human diseases...
January 18, 2024: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://read.qxmd.com/read/38242222/long-term-clinical-outcomes-of-patients-with-drug-induced-type-1-brugada-electrocardiographic-pattern-a-nationwide-cohort-registry-study
#26
JOURNAL ARTICLE
Vincenzo Russo, Alfredo Caturano, Federico Migliore, Federico Guerra, Pietro Francia, Martina Nesti, Giulio Conte, Alessandro Paoletti Perini, Giuseppe Mascia, Stefano Albani, Procolo Marchese, Vincenzo Ezio Santobuono, Gregory Dendramis, Andrea Rossi, Emilio Attena, Andrea Ottonelli Ghidini, Luigi Sciarra, Zefferino Palamà, Enrico Baldi, Emanuele Romeo, Antonio D'Onofrio, Gerardo Nigro
BACKGROUND: There are limited real-world data about the extended prognosis of patients with drug-induced type 1 Brugada electrocardiogram (ECG). OBJECTIVE: We assessed the clinical outcomes and predictors of life-threatening arrhythmias in patients with drug-induced type 1 Brugada ECG. MATERIALS AND METHODS: This multicenter retrospective study, conducted at 21 Italian and Swiss hospitals from July 1997 to May 2021, included consecutive patients with drug-induced type 1 ECG...
January 17, 2024: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://read.qxmd.com/read/38232626/generation-of-a-patient-specific-ipsc-cell-line-with-cardiac-arrhythmias-and-dilated-cardiomyopathy-cbrculi016-a-an-isogenic-control-cbrculi016-a-1-and-a-paternal-control-cbrculi017-a
#27
JOURNAL ARTICLE
Mohammed Djemai, Dominic Jauvin, Hugo Poulin, Charles-Albert Chapotte-Baldacci, Mohamed Chahine
Dilated cardiomyopathy (DCM) is a prevalent cause of heart failure. We generated induced pluripotent stem cell (iPSC) lines from a DCM patient carrying a mutation in the SCN5A gene, with his healthy father serving as a control. Notably, we employed CRISPR-Cas9 to rectify the mutation in the patient's iPSC line. The resulting iPSC lines expressed pluripotency markers, underwent differentiation into all three embryonic germ layers, maintained a normal karyotype, and lacked reprogramming viral vectors. These iPSC lines serve as a model for delving into the mechanisms of DCM and hold promise for the development of personalized therapeutic approaches...
January 9, 2024: Stem Cell Research
https://read.qxmd.com/read/38230679/overexpression-of-scn5a-overcomes-abc-transporter-mediated-multidrug-resistance-in-acute-myeloid-leukemia-through-promoting-apoptosis
#28
JOURNAL ARTICLE
Kun Xu, Xian-Xu Zhuang, Xiao-Wei Shi
BACKGROUND: This study aimed to explore the effect and mechanism of SCN5A overcoming ATP-binding cassette (ABC) transporter-mediated multidrug resistance (MDR) in acute myeloid leukemia (AML) through promoting apoptosis. RESEARCH DESIGN AND METHODS: The tissues derived from AML patients were divided into Sensitive group and Resistance group according to the presence of drug-resistance. Human AML cell line HL-60 and drug-resistant strain HL-60/ADR were divided into HL-60/ADR-vector group, HL-60/ADR-SCN5A group, HL-60-vector group and HL-60-SCN5A group...
January 17, 2024: Expert Review of Hematology
https://read.qxmd.com/read/38214908/mannitol-and-hyponatremia-regulate-cardiac-ventricular-conduction-in-the-context-of-sodium-channel-loss-of-function
#29
JOURNAL ARTICLE
Grace A Blair, Xiaobo Wu, Chandra Bain, Mark Warren, Gregory S Hoeker, Steven Poelzing
BACKGROUND: Scn5a heterozygous null (Scn5a+/- ) mice have historically been used to investigate arrhythmogenic mechanisms of diseases such as Brugada Syndrome and Lev's disease. Previously, we demonstrated that reducing ephaptic coupling (EpC) in ex vivo hearts exacerbates pharmacological Nav 1.5 loss of function (LOF). Whether this effect is consistent in a genetic Nav 1.5 LOF model is yet to be determined. We hypothesized that loss of EpC would result in greater reduction in conduction velocity (CV) for the Scn5a+/- mouse relative to wild type (WT)...
January 12, 2024: American Journal of Physiology. Heart and Circulatory Physiology
https://read.qxmd.com/read/38196587/multi-site-validation-of-a-functional-assay-to-adjudicate-scn5a-brugada-syndrome-associated-variants
#30
Joanne G Ma, Matthew J O'Neill, Ebony Richardson, Kate L Thomson, Jodie Ingles, Ayesha Muhammad, Joseph F Solus, Giovanni Davogustto, Katherine C Anderson, M Benjamin Shoemaker, Andrew B Stergachis, Brendan J Floyd, Kyla Dunn, Victoria N Parikh, Henry Chubb, Mark J Perrin, Dan M Roden, Jamie I Vandenberg, Chai-Ann Ng, Andrew M Glazer
Brugada Syndrome (BrS) is an inheritable arrhythmia condition that is associated with rare, loss-of-function variants in the cardiac sodium channel gene, SCN5A . Interpreting the pathogenicity of SCN5A missense variants is challenging and ∼79% of SCN5A missense variants in ClinVar are currently classified as Variants of Uncertain Significance (VUS). An in vitro SCN5A -BrS automated patch clamp assay was generated for high-throughput functional studies of Na V 1.5. The assay was independently studied at two separate research sites - Vanderbilt University Medical Center and Victor Chang Cardiac Research Institute - revealing strong correlations, including peak I Na density ( R 2 =0...
December 20, 2023: medRxiv
https://read.qxmd.com/read/38152247/injection-of-i-k1-through-dynamic-clamp-can-make-all-the-difference-in-patch-clamp-studies-on-hipsc-derived-cardiomyocytes
#31
JOURNAL ARTICLE
Arie O Verkerk, Ronald Wilders
Human-induced stem cell-derived cardiomyocytes (hiPSC-CMs) are a valuable tool for studying development, pharmacology, and (inherited) arrhythmias. Unfortunately, hiPSC-CMs are depolarized and spontaneously active, even the working cardiomyocyte subtypes such as atrial- and ventricular-like hiPSC-CMs, in contrast to the situation in the atria and ventricles of adult human hearts. Great efforts have been made, using many different strategies, to generate more mature, quiescent hiPSC-CMs with more close-to-physiological resting membrane potentials, but despite promising results, it is still difficult to obtain hiPSC-CMs with such properties...
2023: Frontiers in Physiology
https://read.qxmd.com/read/38123004/scn5a-l256del-and-l1621f-exhibit-loss-of-function-properties-related-to-autosomal-recessive-congenital-cardiac-disorders-presenting-as-sick-sinus-syndrome-dilated-cardiomyopathy-and-sudden-cardiac-death
#32
JOURNAL ARTICLE
Jiaying Shi, Xueqi Pan, Zhaokun Wang, Ming Yi, Shengyu Xie, Xinyue Zhang, Dachang Tao, Yuan Yang, Yunqiang Liu
Pathogenic mutations in SCN5A could result in dysfunctions of Nav 1.5 and consequently lead to a wide range of inherited cardiac diseases. However, the presence of numerous SCN5A-related variants with unknown significance (VUS) and the comprehensive genotype-phenotype relationship pose challenges to precise diagnosis and genetic counseling for affected families. Here, we functionally identified two novel compound heterozygous variants (L256del and L1621F) in SCN5A in a Chinese family exhibiting complex congenital cardiac phenotypes from sudden cardiac death to overlapping syndromes including sick sinus syndrome and dilated cardiomyopathy in an autosomal recessive pattern...
December 19, 2023: Gene
https://read.qxmd.com/read/38107266/case-report-scn5a-mutations-in-three-young-patients-with-sick-sinus-syndrome
#33
Jiayu Liang, Suxin Luo, Bi Huang
BACKGROUND: Sick Sinus Syndrome (SSS) is generally regarded as a degenerative disease with aging; however, genetic mutations have been confirmed to be associated with SSS. Among them, mutations in SCN5A are common in patients with SSS. We report three young SSS patients with SCN5A mutations at different sites that have not been previously reported in Asian patients. CASE PRESENTATION: The three patients were all young females who presented with symptoms of severe bradycardia and paroxysmal atrial flutter, for which two patients received ablation therapy...
2023: Frontiers in Cardiovascular Medicine
https://read.qxmd.com/read/38095085/the-role-of-mapre2-and-microtubules-in-maintaining-normal-ventricular-conduction
#34
JOURNAL ARTICLE
David Y Chiang, Arie O Verkerk, Rachelle Victorio, Boris I Shneyer, Babet van der Vaart, Mariam Jouni, Nakul Narendran, Ashmita Kc, James R Sampognaro, Franki Vetrano-Olsen, John S Oh, Eva Buys, Berend de Jonge, Disheet A Shah, Tuomas Kiviniemi, Paul W Burridge, Connie R Bezzina, Anna Akhmanova, Calum A MacRae
BACKGROUND: The Brugada syndrome is associated with loss-of-function SCN5A variants, yet these account for only ≈20% of cases. A recent genome-wide association study identified a novel locus within MAPRE2 , which encodes EB (microtubule end-binding protein) 2, implicating microtubule involvement in the Brugada syndrome. METHODS: A mapre2 knockout zebra fish model was generated using CRISPR/Cas9 (clustered regularly interspaced short palindromic repeats/clustered regularly interspaced short palindromic repeat-associated 9) and validated by Western blot...
December 14, 2023: Circulation Research
https://read.qxmd.com/read/38089476/development-of-automated-patch-clamp-assays-to-overcome-the-burden-of-variants-of-uncertain-significance-in-inheritable-arrhythmia-syndromes
#35
REVIEW
Joanne G Ma, Jamie I Vandenberg, Chai-Ann Ng
Advances in next-generation sequencing have been exceptionally valuable for identifying variants in medically actionable genes. However, for most missense variants there is insufficient evidence to permit definitive classification of variants as benign or pathogenic. To overcome the deluge of Variants of Uncertain Significance, there is an urgent need for high throughput functional assays to assist with the classification of variants. Advances in parallel planar patch clamp technologies has enabled the development of automated high throughput platforms capable of increasing throughput 10- to 100-fold compared to manual patch clamp methods...
2023: Frontiers in Physiology
https://read.qxmd.com/read/38068978/challenges-in-brugada-syndrome-stratification-investigating-scn5a-mutation-localization-and-clinical-phenotypes
#36
JOURNAL ARTICLE
Adriana Tarantino, Giuseppe Ciconte, Andrea Ghiroldi, Flavio Mastrocinque, Emanuele Micaglio, Antonio Boccellino, Gabriele Negro, Marco Piccoli, Federica Cirillo, Gabriele Vicedomini, Vincenzo Santinelli, Luigi Anastasia, Carlo Pappone
Brugada Syndrome (BrS) is a genetic heart condition linked to sudden cardiac death. Though the SCN5A gene is primarily associated with BrS, there is a lack of comprehensive studies exploring the connection between SCN5A mutation locations and the clinical presentations of the syndrome. This study aimed to address this gap and gain further understanding of the syndrome. The investigation classified 36 high-risk BrS patients based on SCN5A mutations within the transmembrane/structured (TD) and intra-domain loops (IDLs) lacking a 3D structure...
November 23, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/38053087/clinical-and-genetic-profiles-of-chinese-pediatric-patients-with-catecholaminergic-polymorphic-ventricular-tachycardia
#37
REVIEW
Yu Yan, Liting Tang, Xiaoqin Wang, Kaiyu Zhou, Fan Hu, Hongyu Duan, Xiaoliang Liu, Yimin Hua, Chuan Wang
BACKGROUNDS: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but lethal cardiac ion channelopathy. Delayed diagnosis and misdiagnosis remain a matter of concern due to its rarity and insufficient recognition of this disorder, particularly in developing countries like China. AIMS AND METHODS: We reported six catecholaminergic polymorphic ventricular tachycardia (CPVT) children diagnosed in our center along with a comprehensive review of Chinese pediatric CPVT patients reported in domestic and overseas literature between January 2013 and December 2021 to provide an essential reference for physicians to deepen their understanding of pediatric CPVT...
December 5, 2023: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38036776/gpd1l-a306del-modifies-sodium-current-in-a-family-carrying-the-dysfunctional-scn5a-g1661r-mutation-associated-with-brugada-syndrome
#38
JOURNAL ARTICLE
Francesca Semino, Fabrice F Darche, Claus Bruehl, Michael Koenen, Heyko Skladny, Hugo A Katus, Norbert Frey, Andreas Draguhn, Patrick A Schweizer
Loss-of-function variants of SCN5A, encoding the sodium channel alpha subunit Nav1.5 are associated with high phenotypic variability and multiple cardiac presentations, while underlying mechanisms are incompletely understood. Here we investigated a family with individuals affected by Brugada Syndrome (BrS) of different severity and aimed to unravel the underlying genetic and electrophysiological basis.Next-generation sequencing was used to identify the genetic variants carried by family members. The index patient, who was severely affected by arrhythmogenic BrS, carried previously uncharacterized variants of Nav1...
December 1, 2023: Pflügers Archiv: European Journal of Physiology
https://read.qxmd.com/read/38021525/a-rare-case-of-penoscrotal-webbing-and-extensive-hernias-an-anatomical-report-with-genetic-insights
#39
Carley M Olson, Andrey Frolov, Yun Tan, John R Martin, Meadow Campbell
During a routine anatomical dissection of an 81-year-old male cadaver received through the Gift Body Program of Saint Louis University School of Medicine (SLU SOM), a massive bulging in the abdominal area was observed that was consistent with numerous hernia repairs noted in the donor's self-reported medical history. Gross anatomical dissection of the cadaveric body revealed extensive herniation of portions of the small intestine and peritoneal sac along the costal margin and extending to the left aspect of the abdomen...
October 2023: Curēus
https://read.qxmd.com/read/38008367/loss-of-sodium-current-caused-by-a-brugada-syndrome-associated-variant-is-determined-by-patient-specific-genetic-background
#40
JOURNAL ARTICLE
Rebecca Martínez-Moreno, David Carreras, Georgia Sarquella-Brugada, Guillermo J Pérez, Elisabet Selga, Fabiana S Scornik, Ramon Brugada
BACKGROUND: Brugada syndrome (BrS) is an inherited cardiac arrhythmogenic disease that predisposes patients to sudden cardiac death. It is associated with mutations in SCN5A, encoding the cardiac sodium channel alpha subunit (NaV 1.5). BrS-related mutations have incomplete penetrance and variable expressivity within families. OBJECTIVE: To determine the role of patient-specific genetic background on the cellular and clinical phenotype among carriers of NaV 1.5_p...
November 24, 2023: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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