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Atrial Fibrillation Genes

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https://www.readbyqxmd.com/read/29330254/increased-levels-of-lectin-like-oxidized-low-density-lipoprotein-receptor-1-in-ischemic-stroke-and-transient-ischemic-attack
#1
Tonje Skarpengland, Mona Skjelland, Xiang Yi Kong, Karolina Skagen, Sverre Holm, Kari Otterdal, Christen P Dahl, Kirsten Krohg-Sørensen, Ellen L Sagen, Vigdis Bjerkeli, Anne Hege Aamodt, Azhar Abbas, Ida Gregersen, Pål Aukrust, Bente Halvorsen, Tuva B Dahl
BACKGROUND: Soluble lectin-like oxidized low-density lipoprotein receptor-1 (sLOX-1) has been shown to be increased in patients with acute ischemic stroke. Here, we evaluated plasma sLOX-1 levels and vascular carotid plaque LOX-1 (ie, OLR1) gene expression in patients with ischemic stroke and transient ischemic attack (TIA) with particular focus on their relation to time since symptom onset. METHODS AND RESULTS: Plasma sLOX-1 (n=232) and carotid plaque OLR1 gene expression (n=146) were evaluated in patients who were referred to evaluation for carotid endarterectomy, as well as in healthy control plasma (n=81)...
January 12, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29326821/age-sex-and-gene-expression-score-identifies-a-symptomatic-nondiabetic-male-patient-as-being-at-high-risk-of-obstructive-coronary-artery-disease
#2
Ronald J Polinsky
In October 2015, a 74-year-old Caucasian male patient (past medical history of hyperlipidemia, paroxysmal atrial fibrillation, hypertension, and hypothyroidism) presented to the cardiologist for follow-up outpatient evaluation of exertional chest pain. The patient had recently been seen at the Emergency Department for the same complaint. At that time, the patient's cardiac markers, EKG, and pharmacological nuclear stress testing were all reported as normal. At presentation to the cardiologist, the patient's physical examination findings were unremarkable...
2018: SAGE Open Medical Case Reports
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/29290336/genome-wide-study-of-atrial-fibrillation-identifies-seven-risk-loci-and-highlights-biological-pathways-and-regulatory-elements-involved-in-cardiac-development
#4
Jonas B Nielsen, Lars G Fritsche, Wei Zhou, Tanya M Teslovich, Oddgeir L Holmen, Stefan Gustafsson, Maiken E Gabrielsen, Ellen M Schmidt, Robin Beaumont, Brooke N Wolford, Maoxuan Lin, Chad M Brummett, Michael H Preuss, Lena Refsgaard, Erwin P Bottinger, Sarah E Graham, Ida Surakka, Yunhan Chu, Anne Heidi Skogholt, Håvard Dalen, Alan P Boyle, Hakan Oral, Todd J Herron, Jacob Kitzman, José Jalife, Jesper H Svendsen, Morten S Olesen, Inger Njølstad, Maja-Lisa Løchen, Aris Baras, Omri Gottesman, Anthony Marcketta, Colm O'Dushlaine, Marylyn D Ritchie, Tom Wilsgaard, Ruth J F Loos, Timothy M Frayling, Michael Boehnke, Erik Ingelsson, David J Carey, Frederick E Dewey, Hyun M Kang, Gonçalo R Abecasis, Kristian Hveem, Cristen J Willer
Atrial fibrillation (AF) is a common cardiac arrhythmia and a major risk factor for stroke, heart failure, and premature death. The pathogenesis of AF remains poorly understood, which contributes to the current lack of highly effective treatments. To understand the genetic variation and biology underlying AF, we undertook a genome-wide association study (GWAS) of 6,337 AF individuals and 61,607 AF-free individuals from Norway, including replication in an additional 30,679 AF individuals and 278,895 AF-free individuals...
December 27, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29285063/microrna-208a-3p-contributes-to-connexin40-remolding-in-human-chronic-atrial-fibrillation
#5
Shanshan Li, Zhiyuan Jiang, Lina Wen, Guirong Feng, Guoqiang Zhong
Previous studies have demonstrated that connexin40 (Cx40) remolding is involved in atrial fibrillation (AF). GJA5 encoding Cx40 is a potential target mRNA of microRNA-208a-3p (miR-208a-3p), as indicated by preliminary bioinformatics analyses. However, the exact effect of miR-208a-3p on Cx40 in human chronic AF has remained elusive. The present study demonstrated the role of miR-208a-3p in human chronic AF and further investigated the effect of miR-208a-3p on Cx40 expression. A total of 19 patients with AF and 18 patients with sinus rhythm (SR) were enrolled...
December 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29273767/the-rs2108622-polymorphism-is-related-to-the-early-risk-of-ischemic-stroke-in-non-valvular-atrial-fibrillation-subjects-under-oral-anticoagulation
#6
L Colàs-Campàs, J L Royo, M V Montserrat, C Marzo, J Molina-Seguín, I Benabdelhak, S Cambray, F Purroy
Oral anticoagulant treatments, such as vitamin K antagonists (VKAs), are the main treatments administered to atrial fibrillation (AF) patients in order to prevent ischemic stroke (IS). However, the genes involved in the VKA metabolism can undergo variations in a single nucleotide (SNP). These SNPs may then affect the VKA target enzyme (VKORC1), VKA degradation enzyme (CYP2C9), and vitamin K bioavailability enzyme (CYP4F2). We genotyped these SNPs in a cohort of patients with non-valvular AF who were under VKA treatment after suffering an IS...
December 22, 2017: Pharmacogenomics Journal
https://www.readbyqxmd.com/read/29258620/refractory-ventricular-fibrillations-after-surgical-repair-of-atrial-septal-defects-in-a-patient-with-cacna1c-gene-mutation-case-report
#7
Ai Kojima, Fumiaki Shikata, Toru Okamura, Takashi Higaki, Seiko Ohno, Minoru Horie, Shunji Uchita, Yujiro Kawanishi, Kenji Namiguchi, Takumi Yasugi, Hironori Izutani
BACKGROUND: Congenital long QT syndrome (LQTS) can cause ventricular arrhythmic events with syncope and sudden death resulting from malignant torsades de pointes (TdP) followed by ventricular fibrillations (VFs). However, the syndrome is often overlooked prior to the development of arrhythmic events in patients with congenital heart diseases demonstrating right bundle branch block on electrocardiogram (ECG). We present a case of an adult patient with congenital heart disease who developed VFs postoperatively, potentially due to his mutation in a LQTS related gene, which was not identified on preoperative assessment due to incomplete evaluation of his family history...
December 19, 2017: Journal of Cardiothoracic Surgery
https://www.readbyqxmd.com/read/29246775/coronary-ectasia-in-amyloid-cardiomyopathy-and-neuropathy-due-to-the-transthyretin-mutation-c-323a-g
#8
Josef Finsterer, Claudia Stöllberger, Helmut Rauschka, Edmund Gatterer
BACKGROUND: atrial fibrillation(AF) is a frequent manifestation of cardiac involvement in genetic and wild-type transthyretin-related familial amyloidosis(TTR-FA). However, ectasia of coronary arteries and ablation for AF have not been reported in TTR-FA. METHODS AND RESULTS: A 65yo male developed progressive sensori-motor polyneuropathy since age 59y. At age 60y bifascicular block and myocardial thickening were recognised. At age 62y heart failure developed and work-up with cardiac MRI suggested amyloidosis but biopsy was non-informative...
December 12, 2017: Heart & Lung: the Journal of Critical Care
https://www.readbyqxmd.com/read/29237688/heritability-of-atrial-fibrillation
#9
Lu-Chen Weng, Seung Hoan Choi, Derek Klarin, J Gustav Smith, Po-Ru Loh, Mark Chaffin, Carolina Roselli, Olivia L Hulme, Kathryn L Lunetta, Josée Dupuis, Emelia J Benjamin, Christopher Newton-Cheh, Sekar Kathiresan, Patrick T Ellinor, Steven A Lubitz
BACKGROUND: Previous reports have implicated multiple genetic loci associated with AF, but the contributions of genome-wide variation to AF susceptibility have not been quantified. METHODS AND RESULTS: We assessed the contribution of genome-wide single-nucleotide polymorphism variation to AF risk (single-nucleotide polymorphism heritability, h2g ) using data from 120 286 unrelated individuals of European ancestry (2987 with AF) in the population-based UK Biobank...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29237675/gene-based-risk-stratification-for-cardiac-disorders-in-lmna-mutation-carriers
#10
Suguru Nishiuchi, Takeru Makiyama, Takeshi Aiba, Kenzaburo Nakajima, Sayako Hirose, Hirohiko Kohjitani, Yuta Yamamoto, Takeshi Harita, Mamoru Hayano, Yimin Wuriyanghai, Jiarong Chen, Kenichi Sasaki, Nobue Yagihara, Taisuke Ishikawa, Kenji Onoue, Nobuyuki Murakoshi, Ichiro Watanabe, Kimie Ohkubo, Hiroshi Watanabe, Seiko Ohno, Takahiro Doi, Satoshi Shizuta, Tohru Minamino, Yoshihiko Saito, Yasushi Oginosawa, Akihiko Nogami, Kazutaka Aonuma, Kengo Kusano, Naomasa Makita, Wataru Shimizu, Minoru Horie, Takeshi Kimura
BACKGROUND: Mutations in LMNA (lamin A/C), which encodes lamin A and C, typically cause age-dependent cardiac phenotypes, including dilated cardiomyopathy, cardiac conduction disturbance, atrial fibrillation, and malignant ventricular arrhythmias. Although the type of LMNA mutations have been reported to be associated with susceptibility to malignant ventricular arrhythmias, the gene-based risk stratification for cardiac complications remains unexplored. METHODS AND RESULTS: The multicenter cohort included 77 LMNA mutation carriers from 45 families; cardiac disorders were retrospectively analyzed...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29235504/the-%C3%AE-fibrinogen-gene-455g-a-polymorphism-associated-with-cardioembolic-stroke-in-atrial-fibrillation-with-low-cha2ds2-vasc-score
#11
Xiaofeng Hu, Junjun Wang, Yaguo Li, Jiong Wu, Song Qiao, Shanhu Xu, Jun Huang, Linhui Chen
Previous work has suggested that ischemic stroke (IS) may be more likely to occur in individuals with a genetic predisposition. In this study, we investigated the potential association of IS-relevant genetic risk factors with cardioembolic stroke (CES) in atrial fibrillation (AF) patients with low CHA2DS2-VaSc score. Genotyping was performed using the GenomeLab SNPstream genotyping platform for five IS-relevant SNPs (MMP-9 C1562T, ALOX5AP SG13S114A/T, MTHFR 677 C/T, FGB 455 G/A, and eNOS G298A) in 479 AF patients with CES and 580 age and sex-matched AF patients without CES...
December 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29212899/novel-mutation-in-flnc-filamin-c-causes-familial-restrictive-cardiomyopathy
#12
Nathan R Tucker, Micheal A McLellan, Dongjian Hu, Jiangchuan Ye, Victoria A Parsons, Robert W Mills, Sebastian Clauss, Elena Dolmatova, Marisa A Shea, David J Milan, Nandita S Scott, Mark Lindsay, Steven A Lubitz, Ibrahim J Domian, James R Stone, Honghuang Lin, Patrick T Ellinor
BACKGROUND: Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by impaired diastolic ventricular function resulting in a poor clinical prognosis. Rarely, heritable forms of RCM have been reported, and mutations underlying RCM have been identified in genes that govern the contractile function of the cardiomyocytes. METHODS AND RESULTS: We evaluated 8 family members across 4 generations by history, physical examination, electrocardiography, and echocardiography...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29212778/the-identification-of-64-novel-genetic-loci-provides-an-expanded-view-on-the-genetic-architecture-of-coronary-artery-disease
#13
Pim van der Harst, Niek Verweij
Rationale: Coronary artery disease (CAD) is a complex phenotype driven by genetic and environmental factors. 97 genetic risk loci have been identified so far, but the identification of additional susceptibility loci might be important to enhance our understanding of the genetic architecture of CAD. Objective: To expand the number of genome-wide significant loci, catalog functional insights, and enhance our understanding of the genetic architecture of CAD. Methods and Results: We performed a genome-wide association study (GWAS) in 34,541 CAD cases and 261,984 controls of UK biobank Resource followed by replication in 88,192 cases and 162,544 controls from CARDIoGRAMplusC4D...
December 6, 2017: Circulation Research
https://www.readbyqxmd.com/read/29206857/z-disc-protein-chapb-induces-cardiomyopathy-and-contractile-dysfunction-in-the-postnatal-heart
#14
Willemijn van Eldik, Brigit den Adel, Jantine Monshouwer-Kloots, Daniela Salvatori, Saskia Maas, Ingeborg van der Made, Esther E Creemers, Derk Frank, Norbert Frey, Nicky Boontje, Jolanda van der Velden, Paul Steendijk, Christine Mummery, Robert Passier, Abdelaziz Beqqali
AIMS: The Z-disc is a crucial structure of the sarcomere and is implicated in mechanosensation/transduction. Dysregulation of Z-disc proteins often result in cardiomyopathy. We have previously shown that the Z-disc protein Cytoskeletal Heart-enriched Actin-associated Protein (CHAP) is essential for cardiac and skeletal muscle development. Furthermore, the CHAP gene has been associated with atrial fibrillation in humans. Here, we studied the misregulated expression of CHAP isoforms in heart disease...
2017: PloS One
https://www.readbyqxmd.com/read/29201233/association-between-connexin-40-and-potassium-voltage-gated-channel-subfamily-a-member-5-expression-in-the-atrial-myocytes-of-patients-with-atrial-fibrillation
#15
Fei Zhang, Yuhao Bian, Lei Huang, Wenbin Fan
Structural and electrical remodeling within the atrium mediate the pathogenesis of atrial fibrillation (AF). Two key genes that sever a role in this remodeling are connexin 40 (Cx40) and potassium voltage-gated channel subfamily A member 5 (KCNA5), respectively. Electrical remodeling is considered to induce structural remodeling during AF. In the present study, the left atrial appendage section and atrial myocytes of patients with AF were evaluated. It was observed that Cx40 and KCNA5 mRNA (P<0.05) and protein (P<0...
November 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29194452/hyperthyroidism-but-not-hypertension-impairs-pitx2-expression-leading-to-wnt-microrna-ion-channel-remodeling
#16
Estefanía Lozano-Velasco, Rosemary Wangensteen, Andrés Quesada, Carlos Garcia-Padilla, Julia A Osorio, María Dolores Ruiz-Torres, Amelia Aranega, Diego Franco
PITX2 is a homeobox transcription factor involved in embryonic left/right signaling and more recently has been associated to cardiac arrhythmias. Genome wide association studies have pinpointed PITX2 as a major player underlying atrial fibrillation (AF). We have previously described that PITX2 expression is impaired in AF patients. Furthermore, distinct studies demonstrate that Pitx2 insufficiency leads to complex gene regulatory network remodeling, i.e. Wnt>microRNAs, leading to ion channel impairment and thus to arrhythmogenic events in mice...
2017: PloS One
https://www.readbyqxmd.com/read/29174246/incidence-of-drug-induced-torsades-de-pointes-with-intravenous-amiodarone
#17
Jayaprakash Shenthar, Jayasheelan Mambally Rachaiah, Vivek Pillai, Siva Sankara Chakali, Vidhyakar Balasubramanian, Manjunath Chollenhalli Nanjappa
AIM: To define the incidence, presentation, and outcomes of drug-induced Torsades de Pointes (TdP) with intravenous (IV) amiodarone. METHODS: From January 2014 to August 2016 a total of 268 patients received IV amiodarone, 142 for ventricular tachycardia, 104 for atrial flutter/fibrillation, and 22 for incessant atrial tachycardia. A uniform dosing of amiodarone to yield 1gm/day was used in all patients. RESULTS: Four of the 268 patients (M:F 1:3) with mean age of 51...
November 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/29173596/the-placebo-effect-in-cardiology-understanding-and-using-it
#18
REVIEW
Robert Sheldon, Morwenna Opie-Moran
The placebo effect is the clinical benefit caused by interaction with a caregiver and health care system in the absence of a biologically active intervention and has been used successfully for millennia. The placebo response results from the interaction of psychosocial mechanisms, human relationships, and preconceptions functioning in specific neuroanatomic locations with known genes and neurotransmitters. It occurs with or without the administration of an inactive substance to deliberately deceive patients...
December 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/29146153/the-stress-kinase-jnk-regulates-gap-junction-cx43-gene-expression-and-promotes-atrial-fibrillation-in-the-aged-heart
#19
Jiajie Yan, Justin K Thomson, Weiwei Zhao, Xiaomin Wu, Xianlong Gao, Dominic DeMarco, Wei Kong, Min Tong, Jun Sun, Mamdouh Bakhos, Vladimir G Fast, Qingrong Liang, Sumanth D Prabhu, Xun Ai
BACKGROUND: The stress kinase c-jun N-terminal kinase (JNK) is critical in the pathogenesis of cardiac diseases associated with an increased incidence of atrial fibrillation (AF), the most common arrhythmia in the elderly. We recently discovered that JNK activation is linked to the loss of gap junction connexin43 (Cx43) and enhanced atrial arrhythmogenicity. However, direct evidence for JNK-mediated impairment of intercellular coupling (cell-cell communication) in the intact aged atrium is lacking, as is evidence for whether and how JNK suppresses Cx43 in the aged human atrium...
November 13, 2017: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29129807/the-long-noncoding-rna-expression-profiles-of-paroxysmal-atrial-fibrillation-identified-by-microarray-analysis
#20
Ying Su, Long Li, Sheng Zhao, Yunan Yue, Shuixiang Yang
BACKGROUND: Long noncoding RNAs (lncRNAs) represent a novel class of noncoding RNAs that are involved in a variety of biological processes and human diseases. Recent evidence suggested that lncRNAs were associated with cardiac disorders. However, the roles of lncRNAs in paroxysmal atrial fibrillation (PAF) remain elusive. The purpose of the present study was to identify differentially expressed lncRNAs in PAF and predict their potential functions. METHODS: Between May 2014 and December 2015, a total of 67 patients, including 34 patients with PAF and 33 patients without PAF were recruited in this study...
November 9, 2017: Gene
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