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https://www.readbyqxmd.com/read/28343764/channelopathies-genetic-testing-and-risk-stratification
#1
Arthur A M Wilde, Ahmad Amin
The cardiac channelopathies are a group of diseases with (disease-) specific electrocardiographic (ECG) characteristics and a disease-specific risk of sudden cardiac death (SCD). This group includes the Long QT Syndromes (LQTS), Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT), Brugada Syndrome (BrS), Short QT Syndromes (SQTS), and Early Repolarization Syndrome (ERS). In the past 2 decades the genetic basis for these disease entities has largely been unraveled and that, together with the identification of the genetic basis of the cardiomyopathies, has paved the way for the complete new field of Cardiogenetics...
March 18, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28339570/frequency-of-different-electrocardiographic-abnormalities-in-a-large-cohort-of-spanish-workers
#2
Jorge Rodríguez-Capitán, Ana Fernández-Meseguer, José Manuel García-Pinilla, Eva Calvo-Bonacho, Manuel Jiménez-Navarro, Teresa García-Margallo, Fernando Cabrera-Bueno, Ignacio Echeverria-Lucotti, Juan José Gómez-Doblas, Eduardo De Teresa-Galván
Aims: Our aim was to describe the electrocardiographic findings of a large sample of Spanish workers from several different employment sectors. Methods and results: Between May 2008 and November 2010, 13 495 consecutive 12-lead resting electrocardiograms (ECGs) were obtained during health examinations of working adults aged 16-74 years in 5 cities in different regions of Spain. Of those, 13 179 ECGs suitable for interpretation were included in this study. All tracings were classified by the same cardiologist, according to the Minnesota Code criteria...
October 6, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28290961/kcnq1-gene-variants-in-large-asymptomatic-populations-considerations-for-genomic-screening-of-military-cohorts
#3
Paul Kruszka, Karin Weiss, Donald W Hadley
INTRODUCTION: The advances in genomic technology of large populations make the potential for genomic screening of military cohorts and recruits feasible, affording the potential to identify at-risk individuals before occurrence of potentially life-threatening events. Exploring sudden cardiac death, known to cause significant morbidity and mortality in young military service members, we focused on the most common gene associated with long QT syndrome (LQTS), KCNQ1. MATERIALS AND METHODS: Using the publicly available database Exome Aggregation Consortium as a surrogate for a military population, variants in KCNQ1 were filtered on the basis of population prevalence, classification as a disease mutation in the Human Gene Mutation database, and classification as pathogenic or likely pathogenic in the ClinVar database...
March 2017: Military Medicine
https://www.readbyqxmd.com/read/28290796/-sudden-cardiac-death-in-patients-with-chronic-obstructive-pulmonary-disease
#4
N A Karoli, A P Rebrov
The article contains review of data on the problem of sudden cardiac death (SCD) in patients with chronic obstructive pulmonary disease (COPD). Large studies have shown that risk of cardiovascular mortality in patients with chronic obstructive pulmonary disease (COPD) is 2-3 times greater than in general population. The incidence of COPD and ischemic heart disease (IHD) progressively rises with age. Combination of these diseases is often observed in clinical practice among patients older than 40 years. According to the population study published in 2015 COPD has been associated with elevated risk of SCD especially in patients with frequent exacerbations within 5 years after diagnosis...
February 2017: Kardiologiia
https://www.readbyqxmd.com/read/28264985/kcnq1-p-l353l-affects-splicing-and-modifies-the-phenotype-in-a-founder-population-with-long-qt-syndrome-type-1
#5
Jamie D Kapplinger, Anders Erickson, Sirisha Asuri, David J Tester, Sarah McIntosh, Charles R Kerr, Julie Morrison, Anthony Tang, Shubhayan Sanatani, Laura Arbour, Michael J Ackerman
BACKGROUND: Variable expressivity and incomplete penetrance between individuals with identical long QT syndrome (LQTS) causative mutations largely remain unexplained. Founder populations provide a unique opportunity to explore modifying genetic effects. We examined the role of a novel synonymous KCNQ1 p.L353L variant on the splicing of exon 8 and on heart rate corrected QT interval (QTc) in a population known to have a pathogenic LQTS type 1 (LQTS1) causative mutation, p.V205M, in KCNQ1-encoded Kv7...
March 6, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28258544/effect-of-loss-of-heart-rate-variability-on-t-wave-heterogeneity-and-qt-variability-in-heart-failure-patients-implications-in-ventricular-arrhythmogenesis
#6
Sachin Nayyar, Muhammad A Hasan, Kurt C Roberts-Thomson, Thomas Sullivan, Mathias Baumert
Heart rate variability (HRV) modulates dynamics of ventricular repolarization. A diminishing value of HRV is associated with increased vulnerability to life-threatening ventricular arrhythmias, however the causal relationship is not well-defined. We evaluated if fixed-rate atrial pacing that abolishes the effect of physiological HRV, will alter ventricular repolarization wavefronts and is relevant to ventricular arrhythmogenesis. The study was performed in 16 subjects: 8 heart failure patients with spontaneous ventricular tachycardia [HFVT], and 8 subjects with structurally normal hearts (H Norm)...
March 3, 2017: Cardiovascular Engineering and Technology
https://www.readbyqxmd.com/read/28223296/cardiac-effects-of-sulfonylurea-related-hypoglycemia
#7
Timothy L Middleton, Jencia Wong, Lynda Molyneaux, Belinda A Brooks, Dennis K Yue, Stephen M Twigg, Ted Wu
OBJECTIVE: To determine the effect of sulfonylurea-related hypoglycemia on cardiac repolarization and ectopy in the setting of well-controlled type 2 diabetes. RESEARCH DESIGN AND METHODS: Thirty subjects with sulfonylurea-treated type 2 diabetes underwent 48 h of concurrent continuous glucose monitoring and ambulatory electrocardiography. Ventricular repolarization (QTc) and QT dynamicity were analyzed during periods of hypoglycemia (<3.5 mmol/L for >20 min) and compared with periods of euglycemia and hyperglycemia combined...
February 21, 2017: Diabetes Care
https://www.readbyqxmd.com/read/28209348/effects-of-metabolically-healthy-and-unhealthy-obesity-on-prolongation-of-corrected-qt-interval
#8
Xiaofan Guo, Zhao Li, Liang Guo, Shasha Yu, Hongmei Yang, Liqiang Zheng, Guowei Pan, Yonghong Zhang, Yingxian Sun, Mark J Pletcher
Although obesity and the metabolic syndrome (MS) often co-occur, many obese (OB) subjects have a favorable metabolic profile. It is unclear whether these factors independently influence cardiac electrophysiology including prolongation of the QT interval. We examined associations among obesity, MS, and prolonged corrected QT (QTc) interval in a large sample of Chinese research participants aged ≥35 years recruited from rural areas of Liaoning Province during 2012 to 2013. Of the 11,209 participants, 6,364 (56...
April 15, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28196901/novel-variant-in-the-ank2-membrane-binding-domain-is-associated-with-ankyrin-b-syndrome-and-structural-heart-disease-in-a-first-nations-population-with-a-high-rate-of-long-qt-syndrome
#9
Leigh Anne Swayne, Nathaniel P Murphy, Sirisha Asuri, Lena Chen, Xiaoxue Xu, Sarah McIntosh, Chao Wang, Peter J Lancione, Jason D Roberts, Charles Kerr, Shubhayan Sanatani, Elizabeth Sherwin, Crystal F Kline, Mingjie Zhang, Peter J Mohler, Laura T Arbour
BACKGROUND: Long QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT syndrome is ≈15× more common in First Nations of Northern British Columbia largely because of a known mutation in KCNQ1. However, 2 large multigenerational families were affected, but negative for the known mutation. METHODS AND RESULTS: Long QT syndrome panel testing was carried out in the index case of each family, and clinical information was collected...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28193647/piperaquine-population-pharmacokinetics-and-cardiac-safety-in-cambodia
#10
Pattaraporn Vanachayangkul, Chanthap Lon, Michele Spring, Sommethy Sok, Winita Ta-Aksorn, Chanikarn Kodchakorn, Sut-Thang Pann, Soklyda Chann, Mali Ittiverakul, Sabaithip Sriwichai, Nillawan Buathong, Worachet Kuntawunginn, Mary So, Theng Youdaline, Erin Milner, Mariusz Wojnarski, Charlotte Lanteri, Jessica Manning, Satharath Prom, Mark Haigney, Louis Cantilena, David Saunders
Despite rising resistance, dihydroartemisinin-piperaquine (DP) remains a first line therapy for uncomplicated malaria in many parts of Cambodia. While generally well-tolerated as a 3-day regimen, compressed 2-day regimens were associated with treatment-limiting cardiac repolarization effects in a recent clinical trial. To better estimate the risks of piperaquine concentration on QT interval prolongation, we pooled data from 3 randomized clinical trials between 2010 and 2014 in northern Cambodia. A population pharmacokinetic model was developed to compare exposure-response relationships between 2-day (2DP) and 3-day (3DP) regimens while accounting for differences in regimen and sample collection times between studies...
February 13, 2017: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/28182570/long-term-outcome-and-safety-of-prolonged-bedaquiline-treatment-for-multidrug-resistant-tuberculosis
#11
Lorenzo Guglielmetti, Marie Jaspard, Damien Le Dû, Marie Lachâtre, Dhiba Marigot-Outtandy, Christine Bernard, Nicolas Veziris, Jérôme Robert, Yazdan Yazdanpanah, Eric Caumes, Mathilde Fréchet-Jachym
Bedaquiline, a recently approved drug for the treatment of multidrug-resistant tuberculosis (MDR-TB), is recommended for a duration of 24 weeks. There are scarce data on patients treated with this drug outside clinical trials.All MDR-TB patients who started treatment from January 1, 2011 to December 31, 2013 and received ≥30 days of bedaquiline were included in a multicentre observational cohort.Among 45 MDR-TB patients, 53% harboured isolates resistant to both fluoroquinolones and second-line injectables, and 38% harboured isolates resistant to one of these drug classes...
December 22, 2016: European Respiratory Journal: Official Journal of the European Society for Clinical Respiratory Physiology
https://www.readbyqxmd.com/read/28165431/moxifloxacin-increases-heart-rate-in-humans
#12
Jay W Mason, Thomas E Moon
(1) Background: We assessed the effect of moxifloxacin on heart rate, and reviewed the heart rate effects of other antibiotics; (2) Methods: A total of 335 normal volunteers had 12-lead electrocardiograms recorded at multiple time points before and during treatment with moxifloxacin and with placebo in seven consecutive, thorough QT studies of crossover design; (3) Results: The average baseline heart rate across the seven studies was 61.5 bpm. The heart rate after moxifloxacin dosing was analyzed at five time points shared by all seven studies (hours 1, 2, 3, 12 and 24)...
February 5, 2017: Antibiotics
https://www.readbyqxmd.com/read/28139390/persistence-of-influenza-on-surfaces
#13
K-A Thompson, A M Bennett
BACKGROUND: Close contact transmission (either direct or large droplet/droplet nuclei) is considered the main driver of influenza outbreaks but there is limited information regarding the role of fomites in transmission. AIM: To investigate the surface stability of influenza strains and thereby the role of fomites in transmission. METHODS: The viability and quantitative reverse transcription-polymerase chain reaction (qt-RT-PCR) signal of five influenza strains (A/PR/8/34/H1N1, A/Cal/7/09/H1N1, A/Cal/4/09/H1N1, A/Sol/54/06/H1N1, and A/Bris/59/07/H1N1) seeded on to three surfaces (cotton, microfibre, and stainless steel) were assessed over time...
February 2017: Journal of Hospital Infection
https://www.readbyqxmd.com/read/28134617/modeling-susceptibility-to-drug-induced-long-qt-with-a-panel-of-subject-specific-induced-pluripotent-stem-cells
#14
Francesca Stillitano, Jens Hansen, Chi-Wing Kong, Ioannis Karakikes, Christian Funck-Brentano, Lin Geng, Stuart Scott, Stephan Reynier, Ma Wu, Yannick Valogne, Carole Desseaux, Joe-Elie Salem, Dorota Jeziorowska, Noël Zahr, Ronald Li, Ravi Iyengar, Roger J Hajjar, Jean-Sébastien Hulot
A large number of drugs can induce prolongation of cardiac repolarization and life-threatening cardiac arrhythmias. The prediction of this side effect is however challenging as it usually develops in some genetically predisposed individuals with normal cardiac repolarization at baseline. Here, we describe a platform based on a genetically diverse panel of induced pluripotent stem cells (iPSCs) that reproduces susceptibility to develop a cardiotoxic drug response. We generated iPSC-derived cardiomyocytes from patients presenting in vivo with extremely low or high changes in cardiac repolarization in response to a pharmacological challenge with sotalol...
January 30, 2017: ELife
https://www.readbyqxmd.com/read/28009315/differences-in-ecg-characteristics-and-co-morbidities-among-patients-who-underwent-elective-surgical-repair
#15
I Botchorishvili, N Sharashidze, N Pargalava, Z Pagava, G Saatashvili
The aim of the study was to assess differences in ECG features and prevalence of comorbidies between two groups of patiens: with Abdominal Aortic Aneurism (AAA) and Aorto-Iliac Occlusive Desieses-Lerish Syndrome (LS). Data was collected for all consecutive adult patients who underwent elective surgical repair of AAA (fusiform aneurysm) or LS at "The Center of Vascular and Heart Diseases" (Tbilisi, Georgia) between 2010 and 2014. We studied a prevalence of Arterial Hypertension (AHT); Diabetes mellitus (DM); Renal Failure (RF),Peripheral Artery Disease (PAD), Coronary Artery Disease (CAD) and rate of coronary revascularization in these patients; We also, investigate some of the electrocariographic characteristics: Corrected QT interval(QTC),QT dispersion(QTD)...
November 2016: Georgian Medical News
https://www.readbyqxmd.com/read/28003625/gene-targeted-analysis-of-clinically-diagnosed-long-qt-russian-families
#16
Paolo Enrico Maltese, Nina Orlova, Eugenia Krasikova, Elena Emelyanchik, Anna Cheremisina, Alina Kuscaeva, Alla Salmina, Roberta Miotto, Alice Bonizzato, Giulia Guerri, Monia Zuntini, Svetlana Nicoulina, Matteo Bertelli
Long QT syndrome (LQTS) has great genetic heterogeneity: more than 500 mutations have been described in several genes. Despite many advances, a genetic diagnosis still cannot be established in 25-30% of patients. The aim of the present study was to perform genetic evaluation in 9 Russian families with LQTS; here we report the results of 4 positive probands and their relatives (a total of 16 individuals). All subjects underwent clinical examination, 12-lead ECG, and Holter monitoring. Genetic analysis of the 14 genes mainly involved in LQTS was performed using a next-generation sequencing approach...
February 7, 2017: International Heart Journal
https://www.readbyqxmd.com/read/27988060/syncope-and-risk-of-sudden-cardiac-arrest-in-coronary-artery-disease
#17
Aapo L Aro, Carmen Rusinaru, Audrey Uy-Evanado, Kyndaron Reinier, Derek Phan, Karen Gunson, Jonathan Jui, Sumeet S Chugh
BACKGROUND: Syncope has been associated with increased risk of sudden cardiac arrest (SCA) in specific patient populations, such as hypertrophic cardiomyopathy, heart failure, and long QT syndrome, but data are lacking on the risk of SCA associated with syncope among patients with coronary artery disease (CAD), the most common cause of SCA. We investigated this association among CAD patients in the community. METHODS: All cases of SCA due to CAD were prospectively identified in Portland, Oregon (population approximately 1 million) as part of the Oregon Sudden Unexpected Death Study 2002-2015, and compared to geographical controls...
March 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27977589/sex-specific-association-between-serum-uric-acid-and-prolonged-corrected-qt-interval-result-from-a-general-rural-chinese-population
#18
Xiaofan Guo, Zhao Li, Yamin Liu, Shasha Yu, Hongmei Yang, Liqiang Zheng, Yonghong Zhang, Yingxian Sun
Recently, it has been found that high level of serum uric acid (SUA) is causally related to sudden cardiac death (SCD). We examined the sex-specific associations of SUA with prolonged heart rate-corrected QT (QTc) interval in a general Chinese population.A large sample of 11,206 Chinese research participants aged 35 years and older was recruited from rural areas of Liaoning Province during 2012 to 2013. SUA were divided into quartiles separated for males and females. Prolonged QTc interval, assessed by the Bazett formula, was defined as cut points of 460 ms or longer in females and 450 ms or longer in males...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27958378/large-scale-pharmacogenomic-study-of-sulfonylureas-and-the-qt-jt-and-qrs-intervals-charge-pharmacogenomics-working-group
#19
J S Floyd, C M Sitlani, C L Avery, R Noordam, X Li, A V Smith, S M Gogarten, J Li, L Broer, D S Evans, S Trompet, J A Brody, J D Stewart, J D Eicher, A A Seyerle, J Roach, L A Lange, H J Lin, J A Kors, T B Harris, R Li-Gao, N Sattar, S R Cummings, K L Wiggins, M D Napier, T Stürmer, J C Bis, K F Kerr, A G Uitterlinden, K D Taylor, D J Stott, R de Mutsert, L J Launer, E L Busch, R Méndez-Giráldez, N Sotoodehnia, E Z Soliman, Y Li, Q Duan, F R Rosendaal, P E Slagboom, K C Wilhelmsen, A P Reiner, Y-DI Chen, S R Heckbert, R C Kaplan, K M Rice, J W Jukema, A D Johnson, Y Liu, D O Mook-Kanamori, V Gudnason, J G Wilson, J I Rotter, C C Laurie, B M Psaty, E A Whitsel, L A Cupples, B H Stricker
Sulfonylureas, a commonly used class of medication used to treat type 2 diabetes, have been associated with an increased risk of cardiovascular disease. Their effects on QT interval duration and related electrocardiographic phenotypes are potential mechanisms for this adverse effect. In 11 ethnically diverse cohorts that included 71 857 European, African-American and Hispanic/Latino ancestry individuals with repeated measures of medication use and electrocardiogram (ECG) measurements, we conducted a pharmacogenomic genome-wide association study of sulfonylurea use and three ECG phenotypes: QT, JT and QRS intervals...
December 13, 2016: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/27920829/clinical-and-genetic-features-of-australian-families-with-long-qt-syndrome-a-registry-based-study
#20
Charlotte Burns, Jodie Ingles, Andrew M Davis, Vanessa Connell, Belinda Gray, Lauren Hunt, Julie McGaughran, Christopher Semsarian
BACKGROUND: Familial long QT syndrome (LQTS) is a primary arrhythmogenic disorder caused by mutations in ion channel genes. The phenotype ranges from asymptomatic individuals to sudden cardiac arrest and death. LQTS is a rare but significant health problem for which global data should exist. This study sought to provide the first clinical and genetic description of Australian families with LQTS. METHODS: We performed a cross-sectional study to evaluate clinical and genetic features of families with LQTS...
December 2016: Journal of Arrhythmia
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