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SCN5A Mutations

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https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#1
Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet
BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes. METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4)...
March 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28294644/electrocardiogram-changes-and-atrial-arrhythmias-in-individuals-carrying-sodium-channel-scn5a-d1275n-mutation
#2
Sari U M Vanninen, Kjell Nikus, Katriina Aalto-Setälä
INTRODUCTION: The cardiac sodium channel SCN5A regulates atrioventricular and ventricular depolarization as well as cardiac conduction. Patients with cardiac electrical abnormalities have an increased risk of sudden cardiac death (SCD) and cardio-embolic stroke. Optimal management of cardiac disease includes the understanding of association between the causative mutations and the clinical phenotype. A 12-lead electrocardiogram (ECG) is an easy and inexpensive tool for finding risk patients...
March 15, 2017: Annals of Medicine
https://www.readbyqxmd.com/read/28262340/gain-of-function-mutation-in-scn5a-causes-ventricular-arrhythmias-and-early-onset-atrial-fibrillation
#3
Krystien V Lieve, Arie O Verkerk, Svitlana Podliesna, Christian van der Werf, Michael W Tanck, Nynke Hofman, Paul F van Bergen, Leander Beekman, Connie R Bezzina, Arthur A M Wilde, Elisabeth M Lodder
BACKGROUND: Mutations in SCN5A, the gene encoding the α-subunit of the cardiac sodium channel (NaV1.5), are associated with a broad spectrum of inherited cardiac arrhythmia disorders. The purpose of this study was to identify the genetic and functional determinants underlying a Dutch family that presented with a combined phenotype of ventricular arrhythmias with a likely adrenergic component, either in isolation or in combination with a mildly decreased heart function and early onset (<55years) atrial fibrillation...
January 29, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28218286/vinculin-variant-m94i-identified-in-sudden-unexplained-nocturnal-death-syndrome-decreases-cardiac-sodium-current
#4
Jianding Cheng, John W Kyle, Brandi Wiedmeyer, Di Lang, Ravi Vaidyanathan, Jonathan C Makielski
Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative disorder with unclear etiology. Vinculin (VCL) was linked to sudden arrhythmia death in VCL knockout mice prior to the appearance of cardiomyopathy. We hypothesized VCL mutations underlie risk for SUNDS. A rare heterozygous variant VCL-M94I was found in a SUNDS victim who suffered sudden nocturnal tachypnea and lacked pathogenic variants in known arrhythmia-causing genes. VCL was identified to interact with SCN5A in vitro/vivo. The VCL-M94I was co-expressed with the cardiac sodium channel in HEK293 cells and also overexpressed in induced pluripotent stem cells derived cardiomyocytes (iPSCs-CM)...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28217227/cardiac-conduction-defects-and-brugada-syndrome-a-family-with-overlap-syndrome-carrying-a-nonsense-scn5a-mutation
#5
Hisaaki Aoki, Yoshihide Nakamura, Seiko Ohno, Takeru Makiyama, Minoru Horie
BACKGROUND: Phenotypes often differ even within family members carrying the same SCN5A mutation. We aimed to evaluate the genetic modifiers in a family with Brugada syndrome (BrS) and sick sinus syndrome (SSS) with an SCN5A mutation that causes the truncated alpha-subunit of cardiac Na channel protein. METHODS: To detect the genetic modifiers, we performed targeted panel sequencing of the coding region of 46 genes that are related to primary arrhythmia syndrome, by using a bench-top, next generation sequencer...
February 2017: Journal of Arrhythmia
https://www.readbyqxmd.com/read/28191886/sirtuin-1-regulates-cardiac-electrical-activity-by-deacetylating-the-cardiac-sodium-channel
#6
Ajit Vikram, Christopher M Lewarchik, Jin-Young Yoon, Asma Naqvi, Santosh Kumar, Gina M Morgan, Julia S Jacobs, Qiuxia Li, Young-Rae Kim, Modar Kassan, Jing Liu, Mohanad Gabani, Ajay Kumar, Haider Mehdi, Xiaodong Zhu, Xiaoqun Guan, William Kutschke, Xiaoming Zhang, Ryan L Boudreau, Shengchuan Dai, Daniel S Matasic, Saet-Byel Jung, Kenneth B Margulies, Vikas Kumar, Markus M Bachschmid, Barry London, Kaikobad Irani
The voltage-gated cardiac Na(+) channel (Nav1.5), encoded by the SCN5A gene, conducts the inward depolarizing cardiac Na(+) current (INa) and is vital for normal cardiac electrical activity. Inherited loss-of-function mutations in SCN5A lead to defects in the generation and conduction of the cardiac electrical impulse and are associated with various arrhythmia phenotypes. Here we show that sirtuin 1 deacetylase (Sirt1) deacetylates Nav1.5 at lysine 1479 (K1479) and stimulates INa via lysine-deacetylation-mediated trafficking of Nav1...
March 2017: Nature Medicine
https://www.readbyqxmd.com/read/28185290/computational-analysis-of-the-human-sinus-node-action-potential-model-development-and-effects-of-mutations
#7
Alan Fabbri, Matteo Fantini, Ronald Wilders, Stefano Severi
The sinoatrial node (SAN) is the normal pacemaker of the mammalian heart.  Over several decades, a large amount of data on the ionic mechanisms underlying the spontaneous electrical activity of SAN pacemaker cells has been obtained, mostly in experiments on single cells isolated from rabbit SAN. This wealth of data has allowed the development of mathematical models of the electrical activity of rabbit SAN pacemaker cells. Our aim was to construct a more comprehensive model of the electrical activity of a human SAN pacemaker cell, using recently obtained electrophysiological data from human SAN pacemaker cells...
February 9, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28159958/p-n1380del-mutation-in-the-pore-forming-region-of-scn5a-gene-is-associated-with-cardiac-conduction-disturbance-and-ventricular-tachycardia
#8
Zhen Yang, Danbo Lu, Lei Zhang, Jialu Hu, Zhenning Nie, Chang Xie, Fang Qiu, Hua Cheng, Yan Yan
No abstract text is available yet for this article.
February 4, 2017: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/28146213/compound-heterozygous-scn5a-mutations-in-a-toddler-are-they-associated-with-a-more-severe-phenotype
#9
Luciana Sacilotto, Hindalis Ballesteros Epifanio, Francisco Carlos da Costa Darrieux, Fanny Wulkan, Theo Gremen Mimary Oliveira, Denise Tessariol Hachul, Alexandre da Costa Pereira, Mauricio Ibrahim Scanavacca
Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death...
January 2017: Arquivos Brasileiros de Cardiologia
https://www.readbyqxmd.com/read/28127136/a-variant-of-brugada-syndrome
#10
Maryna Popp Switzer, Mohamed Teleb, Enoch Agunanne, Aamer Abbas
Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 (SCN5A) gene with a p. Leu227Pro (L227P) variant located on exon 6...
January 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28104484/sick-sinus-syndrome-with-hcn4-mutations-shows-early-onset-and-frequent-association-with-atrial-fibrillation-and-left-ventricular-noncompaction
#11
Taisuke Ishikawa, Seiko Ohno, Takashi Murakami, Kentaro Yoshida, Hiroyuki Mishima, Tetsuya Fukuoka, Hiroki Kimoto, Risa Sakamoto, Takafumi Ohkusa, Takeshi Aiba, Akihiko Nogami, Naokata Sumitomo, Wataru Shimizu, Koh-Ichiro Yoshiura, Hitoshi Horigome, Minoru Horie, Naomasa Makita
BACKGROUND: Familial sick sinus syndrome (SSS) is often attributable to mutations in genes encoding the cardiac Na channel SCN5A and pacemaker channel HCN4. We previously found that SSS with SCN5A mutations shows early onset of manifestations and male predominance. Despite recent reports on the complications of atrial fibrillation (AF) and left ventricular noncompaction (LVNC) in patients with SSS caused by HCN4 mutations, their overall clinical spectrum remains unknown. OBJECTIVE: The purpose of this study was to investigate the clinical and demographic features of SSS patients carrying HCN4 mutations...
January 17, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28069705/multilevel-analyses-of-scn5a-mutations-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy-suggest-non-canonical-mechanisms-for-disease-pathogenesis
#12
Anneline S J M Te Riele, Esperanza Agullo-Pascual, Cynthia A James, Alejandra Leo-Macias, Marina Cerrone, Mingliang Zhang, Xianming Lin, Bin Lin, Nara L Sobreira, Nuria Amat-Alarcon, Roos F Marsman, Brittney Murray, Crystal Tichnell, Jeroen F van der Heijden, Dennis Dooijes, Toon A B van Veen, Harikrishna Tandri, Steven J Fowler, Richard N W Hauer, Gordon Tomaselli, Maarten P van den Berg, Matthew R G Taylor, Francesca Brun, Gianfranco Sinagra, Arthur A M Wilde, Luisa Mestroni, Connie R Bezzina, Hugh Calkins, J Peter van Tintelen, Lei Bu, Mario Delmar, Daniel P Judge
AIMS: Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy (ARVD/C) is often associated with desmosomal mutations. Recent studies suggest an interaction between the desmosome and sodium channel protein Nav1.5. We aimed to determine the prevalence and biophysical properties of mutations in SCN5A (the gene encoding Nav1.5) in ARVD/C. METHODS AND RESULTS: We performed whole-exome sequencing in six ARVD/C patients (33% male, 38.2 ± 12.1 years) without a desmosomal mutation...
January 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28018021/exome-sequencing-identifies-compound-heterozygous-mutations-in-scn5a-associated-with-congenital-complete-heart-block-in-the-thai-population
#13
Chuphong Thongnak, Pornprot Limprasert, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Chonlaphat Sukasem, Wasun Chantratita
Background. Congenital heart block is characterized by blockage of electrical impulses from the atrioventricular node (AV node) to the ventricles. This blockage can be caused by ion channel impairment that is the result of genetic variation. This study aimed to investigate the possible causative variants in a Thai family with complete heart block by using whole exome sequencing. Methods. Genomic DNA was collected from a family consisting of five family members in three generations in which one of three children in generation III had complete heart block...
2016: Disease Markers
https://www.readbyqxmd.com/read/28011106/a-novel-scn5a-mutation-found-in-a-familial-case-of-long-qt-syndrome-complicated-by-severe-left-ventricular-dysfunction
#14
Mai Kimura, Takashi Kohno, Yoshiyasu Aizawa, Taku Inohara, Yasuyuki Shiraishi, Yoshinori Katsumata, Toru Egashira, Hiroyuki Fukushima, Kenjiro Kosaki, Keiichi Fukuda
A 16-year-old boy with long QT syndrome type 3 (LQT3) was admitted for decompensated heart failure resulting from dilated cardiomyopathy (DCM). His brother was also diagnosed with LQT3 and DCM. A comprehensive genetic analysis identified a novel SCN5A missense mutation-p.Q371E-in these 2 affected living family members. It might be important to suspect the coexistence of DCM and LQT3 (which is rare according to previous articles) in cases with this novel SCN5A missense mutation.
October 20, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/27932425/scn2b-deletion-in-mice-results-in-ventricular-and-atrial-arrhythmias
#15
Yangyang Bao, B Cicero Willis, Chad R Frasier, Luis F Lopez-Santiago, Xianming Lin, Roberto Ramos-Mondragón, David S Auerbach, Chunling Chen, Zhenxun Wang, Justus Anumonwo, Héctor H Valdivia, Mario Delmar, José Jalife, Lori L Isom
BACKGROUND: Mutations in SCN2B, encoding voltage-gated sodium channel β2-subunits, are associated with human cardiac arrhythmias, including atrial fibrillation and Brugada syndrome. Because of this, we propose that β2-subunits play critical roles in the establishment or maintenance of normal cardiac electric activity in vivo. METHODS AND RESULTS: To understand the pathophysiological roles of β2 in the heart, we investigated the cardiac phenotype of Scn2b null mice...
December 2016: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/27919765/late-gadolinium-enhancement-in-brugada-syndrome-a-marker-for-subtle-underlying-cardiomyopathy
#16
Rachel Bastiaenen, Andrew T Cox, Silvia Castelletti, Yanushi D Wijeyeratne, Nicholas Colbeck, Nadia Pakroo, Hammad Ahmed, Nick Bunce, Lisa Anderson, James C Moon, Sanjay Prasad, Sanjay Sharma, Elijah R Behr
BACKGROUND: There is increasing evidence that the Brugada ECG pattern is a marker of subtle structural heart disease. OBJECTIVE: We characterised Brugada syndrome (BrS) patients using cardiovascular magnetic resonance (CMR) with late gadolinium enhancement (LGE). METHODS: BrS was diagnosed according to international guidelines. 26% BrS patients carried SCN5A mutations. CMR data from 78 BrS patients were compared with 78 healthy controls (44±15 vs 42±14 years; p=0...
December 2, 2016: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/27915266/systematic-ajmaline-challenge-in-patients-with-long-qt-3-syndrome-caused-by-the-most-common-mutation-a-multicentre-study
#17
Stephan Hohmann, Boris Rudic, Torsten Konrad, David Duncker, Thorben König, Erol Tülümen, Thomas Rostock, Martin Borggrefe, Christian Veltmann
AIMS: Overlap syndromes of long QT 3 syndrome (LQT3) and the Brugada syndrome (BrS) have been reported. Identification of patients with an overlapping phenotype is crucial before initiation of Class I antiarrhythmic drugs for LQT3. Aim of the present study was to elucidate the yield of ajmaline challenge in unmasking the Brugada phenotype in patients with LQT3 caused by the most common mutation, SCN5A-E1784K. METHODS AND RESULTS: Consecutive families in tertiary referral centres diagnosed with LQT3 caused by SCN5A-E1784K were included in the study...
December 2, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/27834932/functional-studies-and-in-silico-analyses-to-evaluate-non-coding-variants-in-inherited-cardiomyopathies
#18
Giulia Frisso, Nicola Detta, Pamela Coppola, Cristina Mazzaccara, Maria Rosaria Pricolo, Antonio D'Onofrio, Giuseppe Limongelli, Raffaele Calabrò, Francesco Salvatore
Point mutations are the most common cause of inherited diseases. Bioinformatics tools can help to predict the pathogenicity of mutations found during genetic screening, but they may work less well in determining the effect of point mutations in non-coding regions. In silico analysis of intronic variants can reveal their impact on the splicing process, but the consequence of a given substitution is generally not predictable. The aim of this study was to functionally test five intronic variants (MYBPC3-c.506-2A>C, MYBPC3-c...
November 10, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/27816319/contribution-of-a-kcnh2-variant-in-genotyped-long-qt-syndrome-romano-ward-syndrome-under-double-mutations-and-acquired-long-qt-syndrome-under-heterozygote
#19
Yusuke Fujii, Yuichi Matsumoto, Kenshi Hayashi, Wei-Guang Ding, Yukinori Tomita, Daisuke Fukumoto, Yuko Wada, Mari Ichikawa, Keiko Sonoda, Junichi Ozawa, Takeru Makiyama, Seiko Ohno, Masakazu Yamagishi, Hiroshi Matsuura, Minoru Horie, Hideki Itoh
BACKGROUND: Long QT syndrome (LQTS) presents two clinical phenotypes, congenital and acquired forms. This study aims to evaluate the genetic contribution of a KCNH2 variant for the two LQTS phenotypes. METHODS: From 1996 to 2014, genetic screening for LQTS probands was performed for five major genes: KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 and 389 probands were found to be mutation carriers. We analyzed the clinical phenotypes of p.His492Tyr carriers in KCNH2. RESULTS: Heterozygous p...
November 2, 2016: Journal of Cardiology
https://www.readbyqxmd.com/read/27803673/electrophysiological-mechanisms-of-brugada-syndrome-insights-from-pre-clinical-and-clinical-studies
#20
REVIEW
Gary Tse, Tong Liu, Ka H C Li, Victoria Laxton, Yin W F Chan, Wendy Keung, Ronald A Li, Bryan P Yan
Brugada syndrome (BrS), is a primary electrical disorder predisposing affected individuals to sudden cardiac death via the development of ventricular tachycardia and fibrillation (VT/VF). Originally, BrS was linked to mutations in the SCN5A, which encodes for the cardiac Na(+) channel. To date, variants in 19 genes have been implicated in this condition, with 11, 5, 3, and 1 genes affecting the Na(+), K(+), Ca(2+), and funny currents, respectively. Diagnosis of BrS is based on ECG criteria of coved- or saddle-shaped ST segment elevation and/or T-wave inversion with or without drug challenge...
2016: Frontiers in Physiology
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