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https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#1
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29759671/yield-and-pitfalls-of-ajmaline-testing-in-the-evaluation-of-unexplained-cardiac-arrest-and-sudden-unexplained-death-single-center-experience-with-482-families
#2
Rafik Tadros, Eline A Nannenberg, Krystien V Lieve, Doris Škorić-Milosavljević, Najim Lahrouchi, Ronald H Lekanne Deprez, Jeroen Vendrik, Yolan J Reckman, Pieter G Postema, Ahmad S Amin, Connie R Bezzina, Arthur A M Wilde, Hanno L Tan
OBJECTIVES: This study evaluated the yield of ajmaline testing and assessed the occurrence of confounding responses in a large cohort of families with unexplained cardiac arrest (UCA) or sudden unexplained death (SUD). BACKGROUND: Ajmaline testing to diagnose Brugada syndrome (BrS) is routinely used in the evaluation of SUD and UCA, but its yield, limitations, and appropriate dosing have not been studied in a large cohort. METHODS: We assessed ajmaline test response and genetic testing results in 637 individuals from 482 families who underwent ajmaline testing for SUD or UCA...
December 11, 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29754923/enhanced-late-sodium-current-underlies-pro-arrhythmic-intracellular-sodium-and-calcium-dysregulation-in-murine-sodium-channelopathy
#3
Mathilde R Rivaud, Antonius Baartscheer, Arie O Verkerk, Leander Beekman, Sridharan Rajamani, Luiz Belardinelli, Connie R Bezzina, Carol Ann Remme
BACKGROUND: Long QT syndrome mutations in the SCN5A gene are associated with an enhanced late sodium current (INa,L ) which may lead to pro-arrhythmic action potential prolongation and intracellular calcium dysregulation. We here investigated the dynamic relation between INa,L , intracellular sodium ([Na+ ]i ) and calcium ([Ca2+ ]i ) homeostasis and pro-arrhythmic events in the setting of a SCN5A mutation. METHODS AND RESULTS: Wild-type (WT) and Scn5a1798insD/+ (MUT) mice (age 3-5 months) carrying the murine homolog of the SCN5A-1795insD mutation on two distinct genetic backgrounds (FVB/N and 129P2) were studied...
July 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29752399/common-coding-variants-in-scn10a-are-associated-with-the-nav1-8-late-current-and-cardiac-conduction
#4
Vincenzo Macri, Jennifer A Brody, Dan E Arking, William J Hucker, Xiaoyan Yin, Honghuang Lin, Robert W Mills, Moritz F Sinner, Steven A Lubitz, Ching-Ti Liu, Alanna C Morrison, Alvaro Alonso, Ning Li, Vadim V Fedorov, Paul M Janssen, Joshua C Bis, Susan R Heckbert, Elena V Dolmatova, Thomas Lumley, Colleen M Sitlani, L Adrienne Cupples, Sara L Pulit, Christopher Newton-Cheh, John Barnard, Jonathan D Smith, David R Van Wagoner, Mina K Chung, Gus J Vlahakes, Christopher J O'Donnell, Jerome I Rotter, Kenneth B Margulies, Michael P Morley, Thomas P Cappola, Emelia J Benjamin, Donna Muzny, Richard A Gibbs, Rebecca D Jackson, Jared W Magnani, Caroline N Herndon, Stephen S Rich, Bruce M Psaty, David J Milan, Eric Boerwinkle, Peter J Mohler, Nona Sotoodehnia, Patrick T Ellinor
BACKGROUND: Genetic variants at the SCN5A / SCN10A locus are strongly associated with electrocardiographic PR and QRS intervals. While SCN5A is the canonical cardiac sodium channel gene, the role of SCN10A in cardiac conduction is less well characterized. METHODS: We sequenced the SCN10A locus in 3699 European-ancestry individuals to identify variants associated with cardiac conduction, and replicated our findings in 21,000 individuals of European ancestry. We examined association with expression in human atrial tissue...
May 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29748316/common-and-rare-coding-genetic-variation-underlying-the-electrocardiographic-pr-interval
#5
Honghuang Lin, Jessica van Setten, Albert V Smith, Nathan A Bihlmeyer, Helen R Warren, Jennifer A Brody, Farid Radmanesh, Leanne Hall, Niels Grarup, Martina Müller-Nurasyid, Thibaud Boutin, Niek Verweij, Henry J Lin, Ruifang Li-Gao, Marten E van den Berg, Jonathan Marten, Stefan Weiss, Bram P Prins, Jeffrey Haessler, Leo-Pekka Lyytikäinen, Hao Mei, Tamara B Harris, Lenore J Launer, Man Li, Alvaro Alonso, Elsayed Z Soliman, John M Connell, Paul L Huang, Lu-Chen Weng, Heather S Jameson, William Hucker, Alan Hanley, Nathan R Tucker, Yii-Der Ida Chen, Joshua C Bis, Kenneth M Rice, Colleen M Sitlani, Jan A Kors, Zhijun Xie, Chengping Wen, Jared W Magnani, Christopher P Nelson, Jørgen K Kanters, Moritz F Sinner, Konstantin Strauch, Annette Peters, Melanie Waldenberger, Thomas Meitinger, Jette Bork-Jensen, Oluf Pedersen, Allan Linneberg, Igor Rudan, Rudolf A de Boer, Peter van der Meer, Jie Yao, Xiuqing Guo, Kent D Taylor, Nona Sotoodehnia, Jerome I Rotter, Dennis O Mook-Kanamori, Stella Trompet, Fernando Rivadeneira, André Uitterlinden, Mark Eijgelsheim, Sandosh Padmanabhan, Blair H Smith, Henry Völzke, Stephan B Felix, Georg Homuth, Uwe Völker, Massimo Mangino, Timothy D Spector, Michiel L Bots, Marco Perez, Mika Kähönen, Olli T Raitakari, Vilmundur Gudnason, Dan E Arking, Patricia B Munroe, Bruce M Psaty, Cornelia M van Duijn, Emelia J Benjamin, Jonathan Rosand, Nilesh J Samani, Torben Hansen, Stefan Kääb, Ozren Polasek, Pim van der Harst, Susan R Heckbert, J Wouter Jukema, Bruno H Stricker, Caroline Hayward, Marcus Dörr, Yalda Jamshidi, Folkert W Asselbergs, Charles Kooperberg, Terho Lehtimäki, James G Wilson, Patrick T Ellinor, Steven A Lubitz, Aaron Isaacs
BACKGROUND: Electrical conduction from the cardiac sinoatrial node to the ventricles is critical for normal heart function. Genome-wide association studies have identified more than a dozen common genetic loci that are associated with PR interval. However, it is unclear whether rare and low-frequency variants also contribute to PR interval heritability. METHODS: We performed large-scale meta-analyses of the PR interval that included 83 367 participants of European ancestry and 9436 of African ancestry...
May 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29728398/predicting-penetrance-of-scn5a-rare-variants-peering-beyond-the-black-and-white-and-into-the-shades-of-grey
#6
EDITORIAL
Jason D Roberts
No abstract text is available yet for this article.
May 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29728395/-scn5a-na-v-1-5-variant-functional-perturbation-and-clinical-presentation-variants-of-a-certain-significance
#7
Brett M Kroncke, Andrew M Glazer, Derek K Smith, Jeffrey D Blume, Dan M Roden
BACKGROUND: Accurately predicting the impact of rare nonsynonymous variants on disease risk is an important goal in precision medicine. Variants in the cardiac sodium channel SCN5A (protein NaV 1.5; voltage-dependent cardiac Na+ channel) are associated with multiple arrhythmia disorders, including Brugada syndrome and long QT syndrome. Rare SCN5A variants also occur in ≈1% of unaffected individuals. We hypothesized that in vitro electrophysiological functional parameters explain a statistically significant portion of the variability in disease penetrance...
May 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29718149/a-common-co-morbidity-modulates-disease-expression-and-treatment-efficacy-in-inherited-cardiac-sodium-channelopathy
#8
Mathilde R Rivaud, John A Jansen, Pieter G Postema, Eline A Nannenberg, Yuka Mizusawa, Roel van der Nagel, Rianne Wolswinkel, Ingeborg van der Made, Gerard A Marchal, Sridharan Rajamani, Luiz Belardinelli, J Peter van Tintelen, Michael W T Tanck, Allard C van der Wal, Jacques M T de Bakker, Harold V van Rijen, Esther E Creemers, Arthur A M Wilde, Maarten P van den Berg, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Aims: Management of patients with inherited cardiac ion channelopathy is hindered by variability in disease severity and sudden cardiac death (SCD) risk. Here, we investigated the modulatory role of hypertrophy on arrhythmia and SCD risk in sodium channelopathy. Methods and results: Follow-up data was collected from 164 individuals positive for the SCN5A-1795insD founder mutation and 247 mutation-negative relatives. A total of 38 (obligate) mutation-positive patients died suddenly or suffered life-threatening ventricular arrhythmia...
April 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29709244/scn5a-mutation-type-and-topology-are-associated-with-the-risk-of-ventricular-arrhythmia-by-sodium-channel-blockers
#9
Ahmad S Amin, Yolan J Reckman, Elena Arbelo, Anne M Spanjaart, Pieter G Postema, Rafik Tadros, Michael W Tanck, Maarten P Van den Berg, Arthur A M Wilde, Hanno L Tan
BACKGROUND: Ventricular fibrillation in patients with Brugada syndrome (BrS) is often initiated by premature ventricular contractions (PVCs). Presence of SCN5A mutation increases the risk of PVCs upon exposure to sodium channel blockers (SCB) in patients with baseline type-1 ECG. In patients without baseline type-1 ECG, however, the effect of SCN5A mutation on the risk of SCB-induced arrhythmia is unknown. We aimed to establish whether presence/absence, type, and topology of SCN5A mutation correlates with PVC occurrence during ajmaline infusion...
April 27, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29709101/genotype-phenotype-relationship-and-risk-stratification-in-loss-of-function-scn5a-mutation-carriers
#10
Tomas Robyns, Dieter Nuyens, Bert Vandenberk, Cuno Kuiperi, Anniek Corveleyn, Jeroen Breckpot, Christophe Garweg, Joris Ector, Rik Willems
INTRODUCTION: Loss-of-function (LoF) mutations in the SCN5A gene cause multiple phenotypes including Brugada Syndrome (BrS) and a diffuse cardiac conduction defect. Markers of increased risk for sudden cardiac death (SCD) in LoF SCN5A mutation carriers are ill defined. We hypothesized that late potentials and fragmented QRS would be more prevalent in SCN5A mutation carriers compared to SCN5A-negative BrS patients and evaluated risk markers for SCD in SCN5A mutation carriers. METHODS: We included all SCN5A loss-of-function mutation carriers and SCN5A-negative BrS patients from our center...
April 30, 2018: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29709087/identification-of-sarcomeric-variants-in-probands-with-a-clinical-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-arvc
#11
Brittney Murray, Edgar T Hoorntje, Anneline S J M Te Riele, Crystal Tichnell, Jeroen F van der Heijden, Harikrishna Tandri, Maarten P van den Berg, Jan D H Jongbloed, Arthur A M Wilde, Richard N W Hauer, Hugh Calkins, Daniel P Judge, Cynthia A James, J Peter van Tintelen, Dennis Dooijes
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death. Currently 60% of patients meeting Task Force Criteria (TFC) have an identifiable mutation in one of the desmosomal genes. As much overlap is described between other cardiomyopathies and ARVC, we examined the prevalence of rare, possibly pathogenic sarcomere variants in the ARVC population. METHODS: One hundred and thirty-seven (137) individuals meeting 2010 TFC for a diagnosis of ARVC, negative for pathogenic desmosomal variants, TMEM43, SCN5A, and PLN were screened for variants in the sarcomere genes (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2 and TPM1) through either clinical or research genetic testing...
April 30, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29705154/genetic-mutations-of-young-patients-admitted-to-an-emergency-department-for-syncope-during-sport-practice
#12
Jorge Gómez Alcaraz, José Bustamante, Ervigio Corral, Maria Isabel Casado Florez, David Vivas, Victoria Cañadas-Godoy, Juan González Del Castillo, Juan Jorge González Armengol, Antonio López-Farré, Francisco Javier Martín Sánchez
BACKGROUND AND OBJECTIVES: To study the frequency of genetic mutations related to genetic heart disease among young patients admitted for syncope during sport practice. PATIENTS AND METHODS: A case series study that included patients≤45 years admitted for syncope during sport practice during 2010-2011. We collected demographic and clinical variables, genetic tests mutations and final clinical diagnosis. RESULTS: A genetic test was performed in 46 (76...
April 25, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29691127/digenic-heterozigosity-in-scn5a-and-cacna1c-explains-the-variable-expressivity-of-the-long-qt-phenotype-in-a-spanish-family
#13
Paloma Nieto-Marín, Juan Jiménez-Jáimez, David Tinaquero, Silvia Alfayate, Raquel G Utrilla, María Del Mar Rodríguez Vázquez Del Rey, Francesca Perin, Geòrgia Sarquella-Brugada, Lorenzo Monserrat, Josep Brugada, Luis Tercedor, Juan Tamargo, Eva Delpón, Ricardo Caballero
INTRODUCTION AND OBJECTIVES: A known long QT syndrome-related mutation in Nav1.5 cardiac channels (p.R1644H) was found in 4 members of a Spanish family but only 1 of them showed prolongation of the QT interval. In the other 3 relatives, a novel missense mutation in Cav1.2 cardiac channels was found (p.S1961N). Here, we functionally analyzed p.S1961N Cav1.2 channels to elucidate whether this mutation regulates the expressivity of the long QT syndrome phenotype in this family. METHODS: L-type calcium current (ICaL ) recordings were performed by using the whole-cell patch-clamp technique in Chinese hamster ovary cells transiently transfected with native and/or p...
April 21, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29678826/rna-binding-protein-hur-regulates-scn5a-expression-through-stabilizing-mef2c-transcription-factor-mrna
#14
Anyu Zhou, Guangbin Shi, Gyeoung-Jin Kang, An Xie, Hong Liu, Ning Jiang, Man Liu, Euy-Myoung Jeong, Samuel C Dudley
BACKGROUND: Although transcription is the initial process of gene expression, posttranscriptional gene expression regulation has also played a critical role for fine-tuning gene expression in a fast, precise, and cost-effective manner. Although the regulation of sodium channel α-subunit ( SCN5A ) mRNA expression has been studied at both transcriptional and pre-mRNA splicing levels, the molecular mechanisms governing SCN5A mRNA expression are far from clear. METHODS AND RESULTS: Herein, we show that, as evidenced by ribonucleoprotein immunoprecipitation assay, RNA binding protein Hu antigen R/ELAV like RNA binding protein 1 (HuR/ELAVL1) and myocyte enhancer factor-2C (MEF2C) transcription factor mRNA are associated...
April 20, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29672598/long-qt-molecular-autopsy-in-sudden-unexplained-death-in-the-young-1-40-years-old-lessons-learnt-from-an-eight-year-experience-in-new-zealand
#15
Luciana Marcondes, Jackie Crawford, Nikki Earle, Warren Smith, Ian Hayes, Paul Morrow, Tom Donoghue, Amanda Graham, Donald Love, Jonathan R Skinner
BACKGROUND: To review long QT syndrome molecular autopsy results in sudden unexplained death in young (SUDY) between 2006 and 2013 in New Zealand. METHODS: Audit of the LQTS molecular autopsy results, cardiac investigations and family screening data from gene-positive families. RESULTS: During the study period, 365 SUDY cases were referred for molecular autopsy. 128 cases (35%) underwent LQTS genetic testing. 31 likely pathogenic variants were identified in 27 cases (21%); SCN5A (14/31, 45%), KCNH2 (7/31, 22%), KCNQ1 (4/31, 13%), KCNE2 (3/31, 10%), KCNE1 (2/31, 7%), KCNJ2 (1/31, 3%)...
2018: PloS One
https://www.readbyqxmd.com/read/29650450/familial-brugada-syndrome-associated-with-a-complete-deletion-of-the-scn5a-and-scn10a-genes
#16
Juan Pablo Trujillo-Quintero, María Gutiérrez-Agulló, Juan Pablo Ochoa, Juan Gabriel Martínez-Martínez, David de Uña, Amaya García-Fernández
No abstract text is available yet for this article.
April 9, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29650123/interplay-between-genetic-substrate-qtc-duration-and-arrhythmia-risk-in-patients-with-long-qt-syndrome
#17
Andrea Mazzanti, Riccardo Maragna, Gaetano Vacanti, Nicola Monteforte, Raffaella Bloise, Maira Marino, Lorenzo Braghieri, Patrick Gambelli, Mirella Memmi, Eleonora Pagan, Massimo Morini, Alberto Malovini, Martin Ortiz, Luciana Sacilotto, Riccardo Bellazzi, Lorenzo Monserrat, Carlo Napolitano, Vincenzo Bagnardi, Silvia G Priori
BACKGROUND: Long QT syndrome (LQTS) is a common inheritable arrhythmogenic disorder, often secondary to mutations in the KCNQ1, KCNH2, and SCN5A genes. The disease is characterized by a prolonged ventricular repolarization (QTc interval) that confers susceptibility to life-threatening arrhythmic events (LAEs). OBJECTIVES: This study sought to create an evidence-based risk stratification scheme to personalize the quantification of the arrhythmic risk in patients with LQTS...
April 17, 2018: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/29649615/fever-related-arrhythmic-events-in-the-multicenter-survey-on-arrhythmic-events-in-brugada-syndrome-sabrus
#18
Yoav Michowitz, Anat Milman, Georgia Sarquella-Brugada, Antoine Andorin, Jean Champagne, Pieter G Postema, Ruben Casado-Arroyo, Eran Leshem, Jimmy Jm Juang, Carla Giustetto, Jacob Tfelt-Hansen, Yanushi D Wijeyeratne, Christian Veltmann, Domenico Corrado, Sung-Hwan Kim, Pietro Delise, Shingo Maeda, Jean-Baptiste Gourraud, Frederic Sacher, Philippe Mabo, Yoshihide Takahashi, Tsukasa Kamakura, Takeshi Aiba, Giulio Conte, Aviram Hochstadt, Yuka Mizusawa, Michael Rahkovich, Elena Arbelo, Zhengrong Huang, Isabelle Denjoy, Carlo Napolitano, Ramon Brugada, Leonardo Calo, Silvia G Priori, Masahiko Takagi, Elijah R Behr, Fiorenzo Gaita, Gan-Xin Yan, Josep Brugada, Antoine Leenhardt, Arthur A M Wilde, Pedro Brugada, Kengo F Kusano, Kenzo Hirao, Gi-Byoung Nam, Vincent Probst, Bernard Belhassen
BACKGROUND: The literature on fever related arrhythmic events (AE) in Brugada syndrome (BrS) is currently limited to few case reports and small series. OBJECTIVE: The current study aims to describe the characteristics of fever-related AE in a large cohort of BrS patients. METHODS: SABRUS is a multicenter study on 678 BrS patients with first AE documented at time of aborted cardiac arrest (ACA) (n=426) or after prophylactic ICD implantation (n=252)...
April 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29618523/tuning-t-cell-signaling-sensitivity-alters-the-behavior-of-cd4-t-cells-during-an-immune-response
#19
Ashley A Viehmann Milam, Juliet M Bartleson, David L Donermeyer, Stephen Horvath, Vivek Durai, Saravanan Raju, Haiyang Yu, Veronika Redmann, Bernd Zinselmeyer, J Michael White, Kenneth M Murphy, Paul M Allen
Intricate processes in the thymus and periphery help curb the development and activation of autoreactive T cells. The subtle signals that govern these processes are an area of great interest, but tuning TCR sensitivity for the purpose of affecting T cell behavior remains technically challenging. Previously, our laboratory described the derivation of two TCR-transgenic CD4 T cell mouse lines, LLO56 and LLO118, which recognize the same cognate Listeria epitope with the same affinity. Despite the similarity of the two TCRs, LLO56 cells respond poorly in a primary infection whereas LLO118 cells respond robustly...
April 4, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29579189/cardiac-voltage-gated-sodium-channel-mutations-associated-with-left-atrial-dysfunction-and-stroke-in-children
#20
Adrien Moreau, Alexandre Janin, Gilles Millat, Philippe Chevalier
Aims: Cardiac atrial arrhythmias are the most common type of heart rhythm disorders. Its genetic elucidation remains challenging with poor understanding of cellular and molecular processes. These arrhythmias usually affect elderly population but in rare cases, young children may also suffer from such electrical diseases. Severe complications, including stroke, are commonly age related. This study aims to identify a genetic link between electro-mechanic atrial dysfunction and stroke in children...
March 22, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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