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Long qt syndrome

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https://www.readbyqxmd.com/read/29912584/atrial-fibrillation-in-young-patients
#1
Jean-Baptiste Gourraud, Paul Khairy, Sylvia Abadir, Rafik Tadros, Julia Cadrin-Tourigny, Laurent Macle, Katia Dyrda, Blandine Mondesert, Marc Dubuc, Peter G Guerra, Bernard Thibault, Denis Roy, Mario Talajic, Lena Rivard
Atrial fibrillation (AF) is the most frequent arrhythmia worldwide. While mostly seen in elderly, it can also affect young adults (≤45 years of age), older adolescent and children. Areas covered: The aim of this review is to provide an overview of the current management of AF in young patients. Specific issues arise over diagnostic workup as well as antiarrhythmic and anticoagulation therapies. The future management and diagnostic strategies are also discussed. Expert commentary: Management of AF in the young adult is largely extrapolated from adult studies and guidelines...
June 18, 2018: Expert Review of Cardiovascular Therapy
https://www.readbyqxmd.com/read/29904349/an-in-vitro-assay-of-herg-k-channel-potency-for-a-new-egfr-inhibitor-fhnd004
#2
Tao Jin, Bingxue Hu, Shanshan Chen, Qiang Wang, Xue Dong, Yin Zhang, Yongqiang Zhu, Zhao Zhang
FHND004 is a newly synthesized epidermal growth factor receptor (EGFR) inhibitor for the treatment of non-small cell lung cancer (NSCLC). The aim of the present study was to investigate the impacts of FHND004 on human ether-à-go-go- related gene (hERG) K+ channels and the molecular mechanisms underlying of its action. Whole-cell patch clamp recording was performed on wild type (WT), mutant hERG channels heterologously expressed in human embryonic kidney (HEK) 293 cells or I Kr endogenously expressed in HL-1 cells, respectively...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29898835/comparison-of-automated-interval-measurements-by-widely-used-algorithms-in-digital-electrocardiographs
#3
Paul Kligfield, Fabio Badilini, Isabelle Denjoy, Saeed Babaeizadeh, Elaine Clark, Johan De Bie, Brian Devine, Fabrice Extramiana, Gianluca Generali, Richard Gregg, Eric Helfenbein, Jan Kors, Remo Leber, Peter Macfarlane, Pierre Maison-Blanche, Ian Rowlandson, Ramun Schmid, Martino Vaglio, Gerard van Herpen, Joel Xue, Brian Young, Cynthia L Green
BACKGROUND: Automated measurements of electrocardiographic (ECG) intervals by current-generation digital electrocardiographs are critical to computer-based ECG diagnostic statements, to serial comparison of ECGs, and to epidemiological studies of ECG findings in populations. A previous study demonstrated generally small but often significant systematic differences among 4 algorithms widely used for automated ECG in the United States and that measurement differences could be related to the degree of abnormality of the underlying tracing...
June 2018: American Heart Journal
https://www.readbyqxmd.com/read/29898002/qtc-interval-prolongation-in-critically-ill-patients-prevalence-risk-factors-and-associated-medications
#4
Flávia Medeiros Fernandes, Eliane Pereira Silva, Rand Randall Martins, Antonio Gouveia Oliveira
PURPOSE: To investigate the prevalence and risk factors of acquired long QT syndrome (LQTS) on admission to a general Intensive Care Unit (ICU), and to assess the risk of LQTS associated with prescribed medications. METHODS: Prospective observational, cross-sectional study approved by the Institutional Review Board. Between May 2014 and July 2016, 412 patients >18 years-old consecutively admitted to the ICU of a university hospital were included. LQTS was defined as a QT interval on the admission electrocardiogram corrected using Bazett's formula (QTc) >460 ms for men and >470 ms for women...
2018: PloS One
https://www.readbyqxmd.com/read/29891582/genetic-biomarkers-for-the-risk-of-seizures-in-long-qt-syndrome
#5
(no author information available yet)
No abstract text is available yet for this article.
June 12, 2018: Neurology
https://www.readbyqxmd.com/read/29887480/a-wearable-remote-monitoring-system-for-the-identification-of-subjects-with-a-prolonged-qt-interval-or-at-risk-for-drug-induced-long-qt-syndrome
#6
Silvia Castelletti, Federica Dagradi, Karine Goulene, Aurora I Danza, Enrico Baldi, Marco Stramba-Badiale, Peter J Schwartz
BACKGROUND: A correct measurement of the QT interval in the out-of-hospital setting is important whenever the long QT syndrome (LQTS) is suspected or a therapy might lead to drug-induced LQTS (diLQTS) because QT interval monitoring in the initial days of therapy could alert to dangerous QT prolongation. We explored whether automated QTc measurements (BGM) by BodyGuardian™ (BG), a wearable remote monitoring system, are sufficiently reliable compared to our own manual measurements (MM) performed on the same beats during 12‑lead Holter recordings in LQTS patients (pts) and in healthy controls...
September 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29887431/the-power-of-the-patch-a-smart-way-to-track-risk-for-torsades-de-pointes-in-congenital-and-drug-induced-long-qt-syndromes
#7
EDITORIAL
Richard L Verrier
No abstract text is available yet for this article.
September 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29884292/role-of-genetic-heart-disease-in-sentinel-sudden-cardiac-arrest-survivors-across-the-age-spectrum
#8
John R Giudicessi, Michael J Ackerman
BACKGROUND: Sudden cardiac arrest (SCA) may be the sentinel expression of a sudden cardiac death-predisposing genetic heart disease (GHD). Although shown to underlie many unexplained SCAs in the young, the contribution of GHDs to sentinel SCA has never been quantified across the age spectrum. Thus, we sought to determine the contribution of GHDs in single-center referral cohort of non-ischemic SCA survivors. METHODS AND RESULTS: Retrospective analysis of 3037 patients was used to identify all individuals who experienced a sentinel event of SCA...
May 30, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29881912/long-qt-syndrome-kcnh2-mutation-with-sequential-fetal-and-maternal-sudden-death
#9
Jon M Tuveng, Britt-Marie Berling, Gabor Bunford, Carlos G Vanoye, Richard C Welch, Trond P Leren, Alfred L George, Torleiv Ole Rognum
We report a case of a woman who experienced intrauterine fetal death at full term pregnancy, and then died suddenly soon after learning about the death of her fetus. At autopsy, previously undiagnosed neurofibromatosis and an adrenal gland pheochromocytoma were discovered in the mother. Genetic screening also revealed a novel KCNH2mutation in both fetus and mother indicating type 2 congenital long-QT syndrome (LQTS). A catecholamine surge was suspected as the precipitating event of fetal cardiac arrhythmia and sudden fetal death, while the addition of emotional stress provoked a lethal cardiac event in the mother...
June 8, 2018: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/29876285/even-pore-localizing-missense-variants-at-highly-conserved-sites-in-kcnq1-encoded-k-v-7-1-channels-may-have-wild-type-function-and-not-cause-type-1-long-qt-syndrome-do-not-rely-solely-on-the-genetic-test-company-s-interpretation
#10
Ashley Paquin, Dan Ye, David J Tester, Jamie D Kapplinger, Michael T Zimmermann, Michael J Ackerman
No abstract text is available yet for this article.
February 2018: HeartRhythm Case Reports
https://www.readbyqxmd.com/read/29875689/visualizing-mutation-specific-differences-in-the-trafficking-deficient-phenotype-of-kv11-1-proteins-linked-to-long-qt-syndrome-type-2
#11
Allison R Hall, Corey L Anderson, Jennifer L Smith, Tooraj Mirshahi, Claude S Elayi, Craig T January, Brian P Delisle
KCNH2 encodes the Kv11.1 α-subunit that underlies the rapidly activating delayed-rectifier K+ current in the heart. Loss-of-function KCNH2 mutations cause long QT syndrome type 2 (LQT2), and most LQT2-linked missense mutations inhibit the trafficking of Kv11.1 channel protein to the cell surface membrane. Several trafficking-deficient LQT2 mutations (e.g., G601S) generate Kv11.1 proteins that are sequestered in a microtubule-dependent quality control (QC) compartment in the transitional endoplasmic reticulum (ER)...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29874922/cardiovascular-safety-of-psychiatric-agents-a-cautionary-tale
#12
Theodora A Manolis, Antonis A Manolis, Antonis S Manolis
Psychiatric agents are among the most commonly prescribed medications. Despite the advent of newer generation agents, patients receiving them still experience cardiovascular (CV) side effects. However, these agents may have heterogeneous properties, calling for an individualized approach based on efficacy and also on the particular side effect profile of each specific agent. Proarrhythmic effects arising from drug-induced long-QT syndrome and consequent potentially life-threatening polymorphic ventricular arrhythmias in the form of torsade de pointes, the metabolic syndrome contributing to atherosclerosis and acute coronary syndromes, and drug-induced orthostatic hypotension raise major concerns...
January 1, 2018: Angiology
https://www.readbyqxmd.com/read/29874177/postmortem-genetic-testing-for-cardiac-ion-channelopathies-in-stillbirths
#13
Patricia B Munroe, Shea Addison, Dominic J Abrams, Neil J Sebire, James Cartwright, Ian Donaldson, Marta M Cohen, Charles Mein, Andrew Tinker, Stephen C Harmer, Qadeer Aziz, Anna Terry, Monika Struebig, Helen R Warren, Bhumita Vadgama, Darren J Fowler, Donald Peebles, Andrew M Taylor, Peter J Lally, Sudhin Thayyil
BACKGROUND: Although stillbirth is a significant health problem worldwide, the definitive cause of death remains elusive in many cases, despite detailed autopsy. In this study of partly explained and unexplained stillbirths, we used next-generation sequencing to examine an extended panel of 35 candidate genes known to be associated with ion channel disorders and sudden cardiac death. METHODS AND RESULTS: We examined tissue from 242 stillbirths (≥22 weeks), including those where no definite cause of death could be confirmed after a full autopsy...
January 2018: Circulation. Genomic and precision medicine
https://www.readbyqxmd.com/read/29860404/for-neonatal-ecg-screening-there-is-no-reason-to-relinquish-old-bazett-s-correction
#14
Marco Stramba-Badiale, Dilip R Karnad, Karine M Goulene, Gopi Krishna Panicker, Federica Dagradi, Carla Spazzolini, Snehal Kothari, Yash Y Lokhandwala, Peter J Schwartz
Aims: There is an almost endless controversy regarding the choice of the QT correction formula to be used in electrocardiograms (ECG) in neonates for screening for long QT syndrome (LQTS). We compared the performance of four commonly used formulae and a new formula derived from neonates. Methods and results: From a cohort of 44 596 healthy neonates prospectively studied in Italy between 2001 and 2006, 5000 ECGs including 17 with LQTS-causing mutation identified by genotyping were studied using four QT correction formulae [Bazett's (QTcB), Fridericia's (QTcF), Framingham (QTcL), and Hodges (QTcH)]...
May 30, 2018: European Heart Journal
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
#15
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/29804447/-research-progress-of-the-treatment-of-congenital-long-qt-syndrome-type-3
#16
Q Zhang, G Li, L Wu
No abstract text is available yet for this article.
May 24, 2018: Zhonghua Xin Xue Guan Bing za Zhi
https://www.readbyqxmd.com/read/29798782/clinical-spectrum-of-scn5a-mutations-long-qt-syndrome-brugada-syndrome-and-cardiomyopathy
#17
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
#18
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/29789915/a-potential-diagnostic-approach-for-foetal-long-qt-syndrome-developed-and-validated-in-children
#19
Arja Suzanne Vink, Irene M Kuipers, Rianne H A C M De Bruin-Bon, Arthur A M Wilde, Nico A Blom, Sally-Ann B Clur
In patients with Long-QT Syndrome (LQTS), mechanical abnormalities have been described. Recognition of these abnormalities could potentially be used in the diagnosis of LQTS, especially in the foetus where an ECG is not available and DNA-analysis is invasive. We aimed to develop and validate a marker for these mechanical abnormalities in children and to test its feasibility in foetuses as a proof of principle. We measured the myocardial contraction duration using colour Tissue Doppler Imaging (cTDI) in 41 LQTS children and age- and gender-matched controls...
May 22, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29784533/long-qt-syndrome-a-comprehensive-review-of-the-literature-and-current-evidence
#20
REVIEW
Syed Raza Shah, Ki Park
Long QT syndrome (LQT) represents a heterogeneous family of cardiac electrophysiologic disorders characterized by QT prolongation and T-wave abnormalities on the electrocardiogram. It is commonly associated with syncope, however, sudden cardiac death can occur due to torsades de pointes. LQT is a clinical diagnosis and should be suspected in individuals on the basis of clinical presentation, family history and electrocardiogram characteristics. Management is focused on the prevention of syncope and ultimately sudden death...
May 10, 2018: Current Problems in Cardiology
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