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SCN5A Mutations

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https://www.readbyqxmd.com/read/29908370/gender-differences-in-patients-with-brugada-syndrome-and-arrhythmic-events-data-from-a-survey-on-arrhythmic-events-in-678-patients
#1
Anat Milman, Jean-Baptiste Gourraud, Antoine Andorin, Pieter G Postema, Frederic Sacher, Philippe Mabo, Giulio Conte, Carla Giustetto, Georgia Sarquella-Brugada, Aviram Hochstadt, Sung-Hwan Kim, Jimmy Jm Juang, Shingo Maeda, Yoshihide Takahashi, Tsukasa Kamakura, Takeshi Aiba, Eran Leshem, Yoav Michowitz, Michael Rahkovich, Yuka Mizusawa, Elena Arbelo, Zhengrong Huang, Isabelle Denjoy, Yanushi D Wijeyeratne, Carlo Napolitano, Ramon Brugada, Ruben Casado-Arroyo, Jean Champagne, Leonardo Calo, Jacob Tfelt-Hansen, Silvia G Priori, Masahiko Takagi, Christian Veltmann, Pietro Delise, Domenico Corrado, 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: There is limited information on gender differences in patients with Brugada syndrome (BrS) who experienced arrhythmic events (AEs). OBJECTIVES: To compare clinical, electrocardiographic (ECG), electrophysiologic (EP) and genetic characteristics between males and females in BrS-patients with their first AE. METHODS: The multicenter Survey on AE in BrS (SABRUS) collected data on first AE in 678 BrS-patients including 619 (91.3%) males and 59 (8...
June 13, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29877586/a-snapshot-assay-for-detection-of-45-mutations-in-the-scn5a-gene-in-the-chinese-han-population
#2
Jiaqi Wang, Xudong Wang, Zhihua Ma, Keming Yun, Jinding Liu, Deqing Chen, Zidong Liu, Jie Shi, Zeqin Li, Cairong Gao, Qiuxiang Du, Gengqian Zhang
Sudden cardiac death (SCD) occurs frequently in forensic practice and results in no visible pathological changes that can be detected in an autopsy. In recent years, the genetic background has been emphasized when examining SCD cases. The aim of this study is to establish a feasible system to detect SCD-related genes for forensic DNA laboratories. Forty-five reported SCD-associated single nucleotide polymorphisms (SNPs) from sodium voltage-gated channel alpha subunit 5 (SCN5A) were considered in our experiment...
June 7, 2018: Electrophoresis
https://www.readbyqxmd.com/read/29871609/rapid-and-effective-response-of-the-r222q-scn5a-to-quinidine-treatment-in-a-patient-with-purkinje-related-ventricular-arrhythmia-and-familial-dilated-cardiomyopathy-a-case-report
#3
Joanna Zakrzewska-Koperska, Maria Franaszczyk, Zofia Bilińska, Grażyna Truszkowska, Małgorzata Karczmarz, Łukasz Szumowski, Tomasz Zieliński, Rafał Płoski, Maria Bilińska
BACKGROUND: Mutations of the SCN5A gene are reported in 2-4% of patients with dilated cardiomyopathy (DCM). In such cases, DCM is associated with different rhythm disturbances such as the multifocal ectopic Purkinje-related premature contractions and atrial fibrillation. Arrhythmia often occurs at a young age and is the first symptom of heart disease. CASE PRESENTATION: We present the case of 55-year old male with a 30-year history of heart failure (HF) in the course of familial DCM and complex ventricular tachyarrhythmias, which constituted 50-80% of the whole rhythm...
June 5, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29868131/dka-induced-brugada-phenocopy-mimicking-stemi
#4
Christian Abrahim, Satish Maharaj
Case presentation: A 47-year-old Caucasian woman with type 1 diabetes presented with epigastric pain and vomiting. She had not been adherent with her diet and insulin therapy for the past 3 weeks. She never had a personal or family history of arrhythmia-related symptoms, ventricular tachycardia or fibrillation (VT/VF) or premature sudden cardiac death (SCD). Examination revealed dry mucosa, tachycardia and epigastric tenderness to palpation. Her ECG showed ST elevations (V1-V3) with associated T wave inversions (figure 1A)...
2018: Heart Asia
https://www.readbyqxmd.com/read/29851656/postmortem-analysis-of-4-mutation-hotspots-of-kcnq1-kcnh2-and-scn5a-genes-in-sudden-unexplained-death-in-southwest-of-china
#5
Peng-Lin Jia, Yue-Bing Wang, Hua Fu, Wen-Li Huang, Shu-Rong Zhong, Lin Ma, Yu-Hua Li, Yi Dong, Zhong-Chun Sun, Lin Yang, Peng-Fei Qu, Su Zhao, Yong-Qiang Qu, Yan-Mei Xi, Shang-Wen Wang, Xue Tang, Pu-Ping Lei
Long QT syndrome (LQTS) is known to be involved in some sudden unexplained death (SUD) cases. To make clear whether the pathogenic genes of LQTS are involved in SUD in Yunnan province, southwest of China, we examined 4 mutation hotspot segments of KCNQ1, KCNH2, and SCN5A genes in 83 SUD cases using polymerase chain reaction and direct DNA sequencing. Genomic DNA was extracted from paraffin-embedded tissues in 83 cases of sudden cardiac death. One novel homozygous missense variant was identified in exon 3 of KCNQ1, c...
May 31, 2018: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29806494/dysfunctional-nav1-5-channels-due-to-scn5a-mutations
#6
Dan Han, Hui Tan, Chaofeng Sun, Guoliang Li
The voltage-gated sodium channel 1.5 (Nav1.5), encoded by the SCN5A gene, is responsible for the rising phase of the action potential of cardiomyocytes. The sodium current mediated by Nav1.5 consists of peak and late components (INa-P and INa-L ). Mutant Nav1.5 causes alterations in the peak and late sodium current and is associated with an increasingly wide range of congenital arrhythmias. More than 400 mutations have been identified in the SCN5A gene. Although the mechanisms of SCN5A mutations leading to a variety of arrhythmias can be classified according to the alteration of INa-P and INa-L as gain-of-function, loss-of-function and both, few researchers have summarized the mechanisms in this way before...
January 1, 2018: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/29798782/clinical-spectrum-of-scn5a-mutations-long-qt-syndrome-brugada-syndrome-and-cardiomyopathy
#7
REVIEW
Arthur A M Wilde, Ahmad S Amin
SCN5A gene encodes the pore-forming ion-conducting α-subunit of the cardiac sodium channel (Nav 1.5), which is responsible for the initiation and propagation of action potentials and thereby determines cardiac excitability and conduction of electrical stimuli through the heart. The importance of Nav 1.5 for normal cardiac electricity is reflected by various disease entities that can be caused by mutations in SCN5A. Gain-of-function mutations in SCN5A lead to more sodium influx into cardiomyocytes through aberrant channel gating and cause long QT syndrome, a primary electrical disease of the heart...
May 2018: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29791480/complex-interactions-in-a-novel-scn5a-compound-mutation-associated-with-long-qt-and-brugada-syndrome-implications-for-na-channel-blocking-pharmacotherapy-for-de-novo-conduction-disease
#8
Jie Liu, Jason D Bayer, Roozbeh Aschar-Sobbi, Marianne Wauchop, Danna Spears, Michael Gollob, Edward J Vigmond, Robert Tsushima, Peter H Backx, Vijay S Chauhan
BACKGROUND: The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not shorten measurably with mexiletine. OBJECTIVE: We characterized the biophysical properties of P1332L, A647D and wild-type (WT) Na+ channels as well as their combinations in order to understand our proband's phenotype and to guide mexilitine therapy...
2018: PloS One
https://www.readbyqxmd.com/read/29781517/a-homozygous-scn5a-mutation-associated-with-atrial-standstill-and-sudden-death
#9
Reina Bianca Tan, Ivan Gando, Lei Bu, Frank Cecchin, William Coetzee
BACKGROUND: Atrial standstill is an arrhythmogenic condition characterized by the absence of spontaneous electrical and mechanical atrial activity or in response to stimulation. There are few reported familial cases which have been associated with SCN5A mutations co-segregating with GJA5 or RYR2 however isolated SCN5A mutations are rare. OBJECTIVE: The purpose of this study was to determine the clinical and biophysical consequence of a novel SCN5A mutation identified in a family with progressive atrial standstill and sudden death...
May 21, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#10
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
#11
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
#12
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/29718149/a-common-co-morbidity-modulates-disease-expression-and-treatment-efficacy-in-inherited-cardiac-sodium-channelopathy
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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/29650123/interplay-between-genetic-substrate-qtc-duration-and-arrhythmia-risk-in-patients-with-long-qt-syndrome
#19
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
#20
Yoav Michowitz, Anat Milman, Georgia Sarquella-Brugada, Antoine Andorin, Jean Champagne, Pieter G Postema, Ruben Casado-Arroyo, Eran Leshem, Jimmy J M 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 (AEs) in Brugada syndrome (BrS) is currently limited to few case reports and small series. OBJECTIVE: The present study aimed to describe the characteristics of fever-related AE in a large cohort of patients with BrS. METHODS: The Survey on Arrhythmic Events in Brugada Syndrome is a multicenter study on 678 patients with BrS with first AE documented at the time of aborted cardiac arrest (n = 426) or after prophylactic implantable cardioverter-defibrillator implantation (n = 252)...
April 9, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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