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https://www.readbyqxmd.com/read/29349559/a-mutant-hcn4-channel-in-a-family-with-bradycardia-left-bundle-branch-block-and-left-ventricular-noncompaction
#1
Ryosuke Yokoyama, Koshi Kinoshita, Yukiko Hata, Masayoshi Abe, Kenta Matsuoka, Keiichi Hirono, Masanobu Kano, Makoto Nakazawa, Fukiko Ichida, Naoki Nishida, Toshihide Tabata
We found that a female infant presenting with left bundle branch block and left ventricular noncompaction carries uninvestigated gene mutations HCN4(G811E), SCN5A(L1988R), DMD(S2384Y), and EMD(R203H). Here, we explored the possible pathogenicity of HCN4(G811E), which results in a G811E substitution in hyperpolarization-activated cyclic nucleotide-gated channel 4, the main subunit of the cardiac pacemaker channel. Voltage-clamp measurements in a heterologous expression system of HEK293T cells showed that HCN4(G811E) slightly reduced whole-cell HCN4 channel conductance, whereas it did not affect the gating kinetics, unitary conductance, or cAMP-dependent modulation of voltage-dependence...
January 18, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/29325976/profile-of-brugada-syndrome-patients-presenting-with-their-first-documented-arrhythmic-event-data-from-the-survey-on-arrhythmic-events-in-brugada-syndrome-sabrus
#2
Anat Milman, Antoine Andorin, Jean-Baptiste Gourraud, Pieter G Postema, Frederic Sacher, Philippe Mabo, Sung-Hwan Kim, Jimmy Jm Juang, Shingo Maeda, Yoshihide Takahashi, Tsukasa Kamakura, Takeshi Aiba, Giulio Conte, Georgia Sarquella-Brugada, Eran Leshem, Michael Rahkovich, Aviram Hochstadt, Yuka Mizusawa, Elena Arbelo, Zhengrong Huang, Isabelle Denjoy, Carla Giustetto, Yanushi D Wijeyeratne, Carlo Napolitano, Yoav Michowitz, 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: Detailed information on the profile of Brugada syndrome (BrS) patients presenting their first arrhythmic event (AE) after prophylactic implantation of a cardioverter defibrillator (ICD) is limited. OBJECTIVES: 1) To compare clinical, electrocardiographic, electrophysiologic and genetic profiles of patients who exhibited their first documented AE as aborted cardiac arrest (CA) (group A) with those in whom the AE was documented after prophylactic ICD implantation (group B); 2) To characterize group B patients' profile using the Class II indications for ICD implantation established by HRS/EHRA/APHRS Expert Consensus Statement in 2013...
January 8, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29306474/concealed-abnormal-atrial-phenotype-in-patients-with-brugada-syndrome-and-no-history-of-atrial-fibrillation
#3
Giulio Conte, Maria Luce Caputo, Paul G A Volders, Adrian Luca, Luca Mainardi, Ulrich Schotten, Valentina D A Corino, François Regoli, Stef Zeemering, Matthias Zink, Sasan Yazdani, Lukas Kappenberger, Tiziano Moccetti, Jean-Marc Vesin, Angelo Auricchio
OBJECTIVES: The electrocardiogram (ECG) of patients with BrS in sinus rhythm might reflect intrinsic atrial electrical abnormalities independent from any previous atrial fibrillation (AF). Aim of this study is to investigate the presence of P-wave abnormalities in patients with BrS and no history of AF, and to compare them with those displayed by patients with documented paroxysmal AF and by healthy subjects. METHODS: Continuous 5-min 16-lead ECG recordings in sinus rhythm were obtained from 72 participants: 32 patients with a type 1 Brugada ECG, 20 patients with a history of paroxysmal AF and 20 age-matched healthy subjects...
February 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29306026/differential-regulation-of-tefluthrin-and-telmisartan-on-the-gating-charges-of-ina-activation-and-inactivation-as-well-as-on-resurgent-and-persistent-ina-in-a-pituitary-cell-line-gh3
#4
Edmund Cheung So, Sheng-Nan Wu, Yi-Ching Lo, Kevin Su
Voltage-gated Na+ currents (INa), known to contain many components (e.g., transient, resurgent and persistent INa) with unique gating properties, are involved in the generation and propagation of action potentials in excitable cells. In this study, how tefluthrin (Tef), a synthetic pyrethoid, and telmisartan (TEL), blocker of angiotensin II receptors can perturb those components of INa was investigated. The presence of either Tef or TEL increased the values of the gating charges of INa involved in the activation (za) and inactivation (za)...
January 3, 2018: Toxicology Letters
https://www.readbyqxmd.com/read/29214556/influence-of-genetic-modifiers-on-sudden-cardiac-death-cases
#5
Tina Jenewein, Thomas Neumann, Damir Erkapic, Malte Kuniss, Marcel A Verhoff, Gerhard Thiel, Silke Kauferstein
Sequence variants in the ion channel genes KCNH2 and SCN5A may cause the cardiac disorder long QT syndrome (LQTS). This disorder is associated with incomplete penetrance and variable expression in KCNH2- or SCN5A-mutation carriers. Common genetic variants, if associated with a mutation, may affect the severity of this cardiac disorder. This study identified rare mutations in the cardiac ion channel genes KCNH2 and SCN5A in a SCD case, as well as in a LQTS-affected family with a history of SCD. Moreover, common variants were found to occur together within the same genes...
December 6, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/29213071/gwas-of-the-electrocardiographic-qt-interval-in-hispanics-latinos-generalizes-previously-identified-loci-and-identifies-population-specific-signals
#6
Raúl Méndez-Giráldez, Stephanie M Gogarten, Jennifer E Below, Jie Yao, Amanda A Seyerle, Heather M Highland, Charles Kooperberg, Elsayed Z Soliman, Jerome I Rotter, Kathleen F Kerr, Kelli K Ryckman, Kent D Taylor, Lauren E Petty, Sanjiv J Shah, Matthew P Conomos, Nona Sotoodehnia, Susan Cheng, Susan R Heckbert, Tamar Sofer, Xiuqing Guo, Eric A Whitsel, Henry J Lin, Craig L Hanis, Cathy C Laurie, Christy L Avery
QT interval prolongation is a heritable risk factor for ventricular arrhythmias and can predispose to sudden death. Most genome-wide association studies (GWAS) of QT were performed in European ancestral populations, leaving other groups uncharacterized. Herein we present the first QT GWAS of Hispanic/Latinos using data on 15,997 participants from four studies. Study-specific summary results of the association between 1000 Genomes Project (1000G) imputed SNPs and electrocardiographically measured QT were combined using fixed-effects meta-analysis...
December 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29202755/h558r-a-common-scn5a-polymorphism-modifies-the-clinical-phenotype-of-brugada-syndrome-by-modulating-dna-methylation-of-scn5a-promoters
#7
Hiroya Matsumura, Yukiko Nakano, Hidenori Ochi, Yuko Onohara, Akinori Sairaku, Takehito Tokuyama, Shunsuke Tomomori, Chikaaki Motoda, Michitaka Amioka, Naoya Hironobe, Masaaki Toshishige, Shinya Takahashi, Katsuhiko Imai, Taijiro Sueda, Kazuaki Chayama, Yasuki Kihara
BACKGROUND: A common SCN5A polymorphism H558R (c.1673 A > G, rs1805124) improves sodium channel activity in mutated channels and known to be a genetic modifier of Brugada syndrome patients (BrS). We investigated clinical manifestations and underlying mechanisms of H558R in BrS. METHODS AND RESULTS: We genotyped H558R in 100 BrS (mean age 45 ± 14 years; 91 men) and 1875 controls (mean age 54 ± 18 years; 1546 men). We compared clinical parameters in BrS with and without H558R (H558R+ vs...
December 4, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29172153/ajmaline-blocks-ina-and-ikr-without-eliciting-differences-between-brugada-syndrome-patient-and-control-human-pluripotent-stem-cell-derived-cardiac-clusters
#8
Duncan C Miller, Stephen C Harmer, Ariel Poliandri, Muriel Nobles, Elizabeth C Edwards, James S Ware, Tyson V Sharp, Tristan R McKay, Leo Dunkel, Pier D Lambiase, Andrew Tinker
The class Ia anti-arrhythmic drug ajmaline is used clinically to unmask latent type I ECG in Brugada syndrome (BrS) patients, although its mode of action is poorly characterised. Our aims were to identify ajmaline's mode of action in human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes (CMs), and establish a simple BrS hiPSC platform to test whether differences in ajmaline response could be determined between BrS patients and controls. Control hiPSCs were differentiated into spontaneously contracting cardiac clusters...
November 7, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29167113/irritable-bowel-syndrome-ibs-patients-have-scn5a-channelopathies-that-lead-to-decreased-nav1-5-current-and-mechanosensitivity
#9
Peter R Strege, Amelia Mazzone, Cheryl E Bernard, Leila Neshatian, Simon J Gibbons, Yuri A Saito, David J Tester, Melissa L Calvert, Emeran A Mayer, Lin Chang, Michael J Ackerman, Arthur Beyder, Gianrico Farrugia
The SCN5A-encoded voltage-gated mechanosensitive sodium (Na(+)) channel NaV1.5 is expressed in human GI smooth muscle cells and interstitial cells of Cajal. NaV1.5 contributes to smooth muscle electrical slow waves and mechanical sensitivity. In predominately Caucasian IBS patient cohorts, 2-3% have SCN5A missense mutations which alter NaV1.5 function and may contribute to IBS pathophysiology. In this study examined a racially and ethnically diverse cohort of IBS patients for SCN5A missense mutations, and compared them to IBS negative controls, and determined the resulting NaV1...
November 22, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/29132927/whole-exome-sequencing-identified-a-pathogenic-mutation-in-ryr2-in-a-chinese-family-with-unexplained-sudden-death
#10
Yubi Lin, Siqi He, Zili Liao, Ruiling Feng, Ruilin Liu, Yongzheng Peng, Nan Yu, Hang Qi, Jia Chen, Zifeng Huang, Heping Lei, Yang Liu, Fang Rao, Chunyu Deng, Yumei Xue, Guolin Zhang, Bin Zhang, Hua Yao, Shulin Wu
OBJECTIVE: This study aimed to identify the pathogenic mutation in a Chinese family with unexplained sudden death (USD) or occasional syncope. MATERIALS AND METHODS: Whole exome sequencing and target capture sequencing were respectively conducted for two related patients. The genetic data was screened using the 1000 genomes project and SNP database (PubMed), and the identified mutations were assessed for predicted pathogenicity using the SIFT and Polyphen-2 algorithms...
October 10, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29128504/biophysical-comparison-of-sodium-currents-in-native-cardiac-myocytes-and-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#11
Robert J Goodrow, Suveer Desai, Jacqueline A Treat, Brian K Panama, Mayurika Desai, Vladislav V Nesterenko, Jonathan M Cordeiro
INTRODUCTION: Human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) are used for safety pharmacology and to investigate genetic diseases affecting cardiac ion channels. It is unclear whether adult myocytes or hiPSC-CMs are the better platform for cardiac safety pharmacology. We examined the biophysical and molecular properties of INa in adult myocytes and hiPSC-CMs. METHODS: hiPSC-CMs were plated at low density. Atrial and ventricular cells were obtained from dog hearts...
November 8, 2017: Journal of Pharmacological and Toxicological Methods
https://www.readbyqxmd.com/read/29121719/implantable-cardioverter-defibrillator-therapy-in-repaired-tetralogy-of-fallot-after-pulmonary-valve-replacement-implications-for-the-mechanism-of-ventricular-arrhythmia
#12
Shuenn-Nan Chiu, Shu-Chien Huang, Jou-Kou Wang, Chun-Wei Lu, Ling-Yin Chang, Ming-Tai Lin, Chun-An Chen, Yih-Sharng Chen, Mei-Hwan Wu
BACKGROUND: Ventricular tachycardia (VT), which is related to haemodynamic and electrophysiological alterations, is an important complication in repaired tetralogy of Fallot (rTOF) patients. We defined the role of implantable cardioverter defibrillator (ICD) therapy after pulmonary valve replacement (PVR) and the implications of coexisting long QT gene mutations/polymorphisms. METHODS: From 2003 to 2016, rTOF patients with VT who received ICD implantation were enrolled...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29101013/the-congenital-long-qt-syndrome-type-3-an-update
#13
REVIEW
Andrés Ricardo Pérez-Riera, Raimundo Barbosa-Barros, Rodrigo Daminello Raimundo, Marianne Penachini da Costa de Rezende Barbosa, Isabel Cristina Esposito Sorpreso, Luiz Carlos de Abreu
Congenital long QT syndrome type 3 (LQT3) is the third in frequency compared to the 15 forms known currently of congenital long QT syndrome (LQTS). Cardiac events are less frequent in LQT3 when compared with LQT1 and LQT2, but more likely to be lethal; the likelihood of dying during a cardiac event is 20% in families with an LQT3 mutation and 4% with either an LQT1 or an LQT2 mutation. LQT3 is consequence of mutation of gene SCN5A which codes for the Nav1.5 Na+ channel α-subunit and electrocardiographically characterized by a tendency to bradycardia related to age, prolonged QT/QTc interval (mean QTc value 478 ± 52 ms), accentuated QT dispersion consequence of prolonged ST segment, late onset of T wave and frequent prominent U wave because of longer repolarization of the M cell across left ventricular wall...
October 31, 2017: Indian Pacing and Electrophysiology Journal
https://www.readbyqxmd.com/read/29077258/whole-exome-sequencing-identifies-a-novel-mutation-of-gpd1l-r189x-associated-with-familial-conduction-disease-and-sudden-death
#14
Hao Huang, Ya-Qin Chen, Liang-Liang Fan, Shuai Guo, Jing-Jing Li, Jie-Yuan Jin, Rong Xiang
Cardiac conduction disease (CCD) is a serious disorder and the leading cause of mortality worldwide. It is characterized by arrhythmia, syncope or even sudden cardiac death caused by the dysfunction of cardiac voltage-gated channel. Previous study has demonstrated that mutations in genes encoding voltage-gated channel and related proteins were the crucial genetic lesion of CCD. In this study, we employed whole-exome sequencing to explore the potential causative genes in a Chinese family with ventricular tachycardia and syncope...
October 27, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/29071820/application-of-multigene-panel-sequencing-in-patients-with-prolonged-rate-corrected-qt-interval-and-no-pathogenic-variants-detected-in-kcnq1-kcnh2-and-scn5a
#15
Soo Hyun Seo, So Yeon Kim, Sung Im Cho, Hyunwoong Park, Seungjun Lee, Jong Moon Choi, Man Jin Kim, Jee Soo Lee, Kyung Jin Ahn, Mi Kyoung Song, Eun Jung Bae, Sung Sup Park, Moon Woo Seong
Long QT syndrome (LQTS) is an inherited cardiac disease characterized by a prolonged heart rate-corrected QT (QTc) interval. We investigated the genetic causes in patients with prolonged QTc intervals who were negative for pathogenic variants in three major LQTS-related genes (KCNQ1, KCNH2, and SCN5A). Molecular genetic testing was performed using a panel including 13 LQTS-related genes and 67 additional genes implicated in other cardiac diseases. Overall, putative genetic causes of prolonged QTc interval were identified in three of the 30 patients (10%)...
January 2018: Annals of Laboratory Medicine
https://www.readbyqxmd.com/read/29062695/inaccurate-diagnosis-of-brugada-syndrome-in-a-healthy-woman-based-on-scn5a-mutation-classification
#16
Simrit K Warring, Heather N Anderson, J Martijn Bos, Michael J Ackerman
No abstract text is available yet for this article.
October 2017: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/29056961/determination-of-action-potential-wavelength-restitution-in-scn5a-mouse-hearts-modelling-human-brugada-syndrome
#17
Gary Tse, Sheung Ting Wong, Vivian Tse, Jie Ming Yeo
No abstract text is available yet for this article.
September 2017: Journal of Geriatric Cardiology: JGC
https://www.readbyqxmd.com/read/29032483/regulation-of-cardiac-voltage-gated-sodium-channel-by-kinases-roles-of-protein-kinases-a-and-c
#18
Ademuyiwa S Aromolaran, Mohamed Chahine, Mohamed Boutjdir
In the heart, voltage-gated sodium (Nav) channel (Nav1.5) is defined by its pore-forming α-subunit and its auxiliary β-subunits, both of which are important for its critical contribution to the initiation and maintenance of the cardiac action potential (AP) that underlie normal heart rhythm. The physiological relevance of Nav1.5 is further marked by the fact that inherited or congenital mutations in Nav1.5 channel gene SCN5A lead to altered functional expression (including expression, trafficking, and current density), and are generally manifested in the form of distinct cardiac arrhythmic events, epilepsy, neuropathic pain, migraine, and neuromuscular disorders...
October 15, 2017: Handbook of Experimental Pharmacology
https://www.readbyqxmd.com/read/29024690/sodium-channel-current-loss-of-function-in-induced-pluripotent-stem-cell-derived-cardiomyocytes-from-a-brugada-syndrome-patient
#19
Elisabet Selga, Franziska Sendfeld, Rebecca Martinez-Moreno, Claire N Medine, Olga Tura-Ceide, Sir Ian Wilmut, Guillermo J Pérez, Fabiana S Scornik, Ramon Brugada, Nicholas L Mills
Brugada syndrome predisposes to sudden death due to disruption of normal cardiac ion channel function, yet our understanding of the underlying cellular mechanisms is incomplete. Commonly used heterologous expression models lack many characteristics of native cardiomyocytes and, in particular, the individual genetic background of a patient. Patient-specific induced pluripotent stem (iPS) cell-derived cardiomyocytes (iPS-CM) may uncover cellular phenotypical characteristics not observed in heterologous models...
October 9, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/28988457/re-evaluating-pathogenicity-of-variants-associated-with-the-long-qt-syndrome
#20
Jonathan R Kaltman, Frank Evans, Yi-Ping Fu
INTRODUCTION: Genetic testing for congenital long-QT syndrome (LQTS) has become common. Recent studies have shown that some variants labelled as pathogenic might be misclassified due to sparse case reports and relatively common allele frequencies in the general population. This study aims to evaluate the presence of LQTS-associated variants in the Genome Aggregation Database (gnomAD) population, and assess the functional impact of these variants. METHODS AND RESULTS: Variants associated with LQTS from the Human Gene Mutation Database were extracted and matched to the gnomAD to evaluate population-based allele frequencies (AF)...
October 8, 2017: Journal of Cardiovascular Electrophysiology
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