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https://www.readbyqxmd.com/read/29766267/-syncopes-and-channelopathies
#1
REVIEW
Johanna Müller-Leisse, Christos Zormpas, Thorben König, David Duncker, Christian Veltmann
Syncope can be the first manifestation of cardiac channelopathies, namely Brugada syndrome, long QT syndrome, short QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT). Patients affected by these rare diseases are at increased risk for sudden cardiac death due to ventricular tachyarrhythmias and require specific therapy and follow-up. As syncope is common in the general population, only few cases are caused by an underlying channelopathy. Nevertheless, the diagnosis should be considered in young patients with structurally normal hearts, especially if the history of syncope is typical for an arrhythmogenic cause, in the presence of characteristic echocardiogram (ECG) patterns, and if there is a family history of channelopathies or sudden cardiac death...
May 15, 2018: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/29759541/the-phenotypic-spectrum-of-a-mutation-hotspot-responsible-for-the-short-qt-syndrome
#2
Dan Hu, Yang Li, Jiancheng Zhang, Ryan Pfeiffer, Michael H Gollob, Jeff Healey, Daniel Toshio Harrell, Naomasa Makita, Haruhiko Abe, Yaxun Sun, Jihong Guo, Li Zhang, Ganxin Yan, Douglas Mah, Edward P Walsh, Harris B Leopold, Carla Giustetto, Fiorenzo Gaita, Agnieszka Zienciuk-Krajka, Andrea Mazzanti, Silvia G Priori, Charles Antzelevitch, Hector Barajas-Martinez
OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD). METHODS: Probands diagnosed with SQTS and their family members were evaluated clinically and genetically. KCNH2 wild-type (WT) and mutant genes were transiently expressed in HEK293 cells, and currents were recorded using whole-cell patch clamp and action potential (AP) clamp techniques...
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29744527/inherited-primary-arrhythmia-disorders-cardiac-channelopathies-and-sports-activity
#3
REVIEW
S Marrakchi, I Kammoun, E Bennour, L Laroussi, M Ben Miled, S Kachboura
Sudden cardiac death (SCD) in an apparently healthy individual is a tragedy. It is important to identify the cause of death and to prevent SCD in potentially at-risk family members. Inherited primary arrhythmia disorders are associated with exercise-related SCD. Despite the well-known benefits of exercise, exercise restriction has been a historical mainstay of therapy for these conditions. However, since familiarity with inherited arrhythmia conditions has increased and patients are often children and young adults, it is necessary to reassess the treatment guidelines regarding exercise constraints...
May 9, 2018: Herz
https://www.readbyqxmd.com/read/29738372/paradoxical-effects-of-sodium-calcium-exchanger-inhibition-on-torsade-de-pointes-and-early-afterdepolarization-in-a-heart-failure-rabbit-model
#4
Po-Cheng Chang, Yu-Ying Lu, Hui-Ling Lee, Shien-Fong Lin, Yen Chu, Ming-Shien Wen, Chung-Chuan Chou
Calcium homeostasis plays an important role in development of early afterdepolarizations (EADs) and torsade de pointes (TdP). The role of sodium-calcium exchanger (NCX) inhibition in genesis secondary Ca rise and EADs-TdP is still debated. Dual voltage and intracellular Ca optical mapping were conducted in 6 control and 9 failing rabbit hearts. After baseline electrophysiological and optical mapping studies, E4031 was given to simulate long QT syndrome. ORM-10103 was then administrated to examine the electrophysiological effects on EAD-TdP development...
May 3, 2018: Journal of Cardiovascular Pharmacology
https://www.readbyqxmd.com/read/29731714/proton-pump-inhibitors-and-serum-magnesium-levels-in-patients-with-torsades-de-pointes
#5
Pietro E Lazzerini, Iacopo Bertolozzi, Francesco Finizola, Maurizio Acampa, Mariarita Natale, Francesca Vanni, Rosella Fulceri, Alessandra Gamberucci, Marco Rossi, Beatrice Giabbani, Michele Caselli, Ilaria Lamberti, Gabriele Cevenini, Franco Laghi-Pasini, Pier L Capecchi
Background: Torsades de pointes (TdP) is a life-threatening ventricular tachycardia occurring in long QT-syndrome patients. It usually develops when multiple QT-prolonging factors are concomitantly present, more frequently drugs and electrolyte imbalances. Since proton-pump inhibitors (PPIs)-associated hypomagnesemia is an increasingly recognized adverse event, PPIs were recently included in the list of drugs with conditional risk of TdP, despite only few cases of TdP in PPI users have been reported so far...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29730448/a-big-data-approach-to-the-concordance-of-the-toxicity-of-pharmaceuticals-in-animals-and-humans
#6
Matthew Clark
Although lack of efficacy is an important cause of late stage attrition in drug development the shortcomings in the translation of toxicities observed during the preclinical development to observations in clinical trials or post-approval is an ongoing topic of research. The concordance between preclinical and clinical safety observations has been analyzed only on relatively small data sets, mostly over short time periods of drug approvals. We therefore explored the feasibility of a big-data analysis on a set of 3290 approved drugs and formulations for which 1,637,449 adverse events were reported for both humans animal species in regulatory submissions over a period of more than 70 years...
May 3, 2018: Regulatory Toxicology and Pharmacology: RTP
https://www.readbyqxmd.com/read/29720178/a-new-approach-for-analysis-of-heart-rate-variability-and-qt-variability-in-long-term-ecg-recording
#7
Hau-Tieng Wu, Elsayed Z Soliman
BACKGROUND AND PURPOSE: With the emergence of long-term electrocardiogram (ECG) recordings that extend several days beyond the typical 24-48 h, the development of new tools to measure heart rate variability (HRV) and QT variability is needed to utilize the full potential of such extra-long-term ECG recordings. METHODS: In this report, we propose a new nonlinear time-frequency analysis approach, the concentration of frequency and time (ConceFT), to study the HRV QT variability from extra-long-term ECG recordings...
May 3, 2018: Biomedical Engineering Online
https://www.readbyqxmd.com/read/29697308/emerging-therapeutic-targets-in-the-short-qt-syndrome
#8
Jules C Hancox, Dominic G Whittaker, Chunyun Du, A Graham Stuart, Henggui Zhang
INTRODUCTION: Short QT Syndrome (SQTS) is a rare but dangerous condition characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of sudden death. Implantable cardioverter defibrillators (ICDs) are a first line protection against sudden death, but adjunct pharmacology is beneficial and desirable. AREAS COVERED: The genetic basis for genotyped SQTS variants (SQT1-SQT8) and evidence for arrhythmia substrates from experimental and simulation studies are discussed...
April 26, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29652656/electrocardiogram-abnormalities-related-to-anti-malarials-in-systemic-lupus-erythematosus
#9
Taneisha K McGhie, Paula Harvey, Jiandong Su, Nicole Anderson, George Tomlinson, Zahi Touma
OBJECTIVES: Cardiotoxicity with potential conduction/structural abnormalities on electrocardiogram (ECG) have been reported with anti-malarial (AM). We aimed to study whether cumulative AM is associated with ECG abnormalities. METHODS: A standard resting supine ECG was performed on consecutive patients attending the Lupus Clinic since 2012. ECG abnormalities were grouped into structural [left ventricular hypertrophy or atrial enlargement] and conduction abnormalities [prolonged corrected QT interval (QTc), short PR interval, left bundle branch block (LBBB), right bundle branch block (RBBB) and atrioventricular block (AVB), bradycardia, tachycardia, premature atrial complex, ectopic atrial rhythm, atrial fibrillation, premature ventricular complex and ventricular bigeminy]...
April 13, 2018: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29648704/abnormal-ventricular-repolarization-in-long-qt-syndrome-carriers-is-related-to-short-left-ventricular-filling-time-and-attenuated-stroke-volume-response-during-exercise
#10
Dafni Charisopoulou, George Koulaouzidis, Annika Rydberg, Michael Y Henein
BACKGROUND: Long QT syndrome (LQTS) carriers are characterized by abnormal ventricular repolarization, prolonged systole, and mechanical dispersion. Prolonged left ventricular (LV) systole has been shown to result in disproportionate shortening of LV filling in other conditions. The aim of this study was to assess LV filling, diastolic function, and stroke volume (SV) response to dynamic exercise, in a group of LQTS carriers. METHODS: Forty-seven LQTS carriers (45 ± 15 years, 20 symptomatic) and 35 healthy individuals underwent bicycle stress echocardiogram...
April 12, 2018: Echocardiography
https://www.readbyqxmd.com/read/29643708/evidence-based-review-and-appraisal-of-the-use-of-droperidol-in-the-emergency-department
#11
REVIEW
Pei-Chun Lai, Yen-Ta Huang
Droperidol is a short-acting, potent dopamine D2 antagonist that can pass through the blood-brain barrier. A black box warning was issued for droperidol by the United States Food and Drug Administration in 2001 because of a risk of development of torsades de pointes induced by QT prolongation. Many experts feel that the incidence of arrhythmia is overestimated, and low-dose droperidol is almost always used by anesthesiologists for postoperative nausea and vomiting. In this review, we used evidence-based analysis to appraise high-quality studies with a low risk of bias published after 2001 on the use of droperidol in the emergency department (ED)...
January 2018: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
https://www.readbyqxmd.com/read/29627227/effects-of-moxifloxacin-on-the-proarrhythmic-surrogate-markers-in-healthy-filipino-subjects-exposure-response-modeling-using-ecg-data-of-thorough-qt-qtc-study
#12
Suchitra Matsukura, Yuji Nakamura, Kiyotaka Hoshiai, Takashi Hayashi, Tadashi Koga, Ai Goto, Koki Chiba, Nur Jaharat Lubna, Mihoko Hagiwara-Nagasawa, Hiroko Izumi-Nakaseko, Kentaro Ando, Atsuhiko T Naito, Atsushi Sugiyama
Effects of moxifloxacin on QTc as well as proarrhythmic surrogate markers including J-Tpeak c, Tpeak -Tend and short-term variability (STV) of repolarization were examined by using both standard E14 time-based evaluation and exposure-response modeling. The study was conducted with a single-blind, randomized, single-dose, placebo-controlled and two-period cross-over design in healthy Filipino subjects. QT interval was corrected by Fridericia's formula (QTcF). In the E14 time-based evaluation of ECG data, the largest ΔΔQTcF with 90% confidence interval was 14...
March 27, 2018: Journal of Pharmacological Sciences
https://www.readbyqxmd.com/read/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#13
REVIEW
W Grimm, A Grimm, K Grimm, E Efimova
A number of rare cardiac diseases can be recognized by electrocardiogram (ECG). This article illustrates the clinical importance of ECG as a key diagnostic tool to detect Wolff-Parkinson-White syndrome and channelopathies, which are frequently diagnosed late after one or more affected family members have become victims of sudden cardiac death. These channelopathies include long QT syndrome, short QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. In addition, typical ECG findings are frequently present in patients with idiopathic ventricular tachycardia, arrhythmogenic right ventricular dysplasia, digitalis intoxication, hyperkalemia, acute cor pulmonale due to pulmonary embolism, as well as severe left ventricular hypertrophy as in hypertrophic cardiomyopathy...
April 4, 2018: Der Internist
https://www.readbyqxmd.com/read/29615871/a-novel-kcnj2-mutation-identified-in-an-autistic-proband-affects-the-single-channel-properties-of-kir2-1
#14
Anna Binda, Ilaria Rivolta, Chiara Villa, Elisa Chisci, Massimiliano Beghi, Cesare M Cornaggia, Roberto Giovannoni, Romina Combi
Inwardly rectifying potassium channels (Kir) have been historically associated to several cardiovascular disorders. In particular, loss-of-function mutations in the Kir2.1 channel have been reported in cases affected by Andersen-Tawil syndrome while gain-of-function mutations in the same channel cause the short QT3 syndrome. Recently, a missense mutation in Kir2.1, as well as mutations in the Kir4.1, were reported to be involved in autism spectrum disorders (ASDs) suggesting a role of potassium channels in these diseases and introducing the idea of the existence of K+ channel ASDs...
2018: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29575607/the-maximum-qtc-of-holter-electrocardiography-in-a-pediatric-population
#15
Yoshiharu Ogawa, Toshikatsu Tanaka, Sachiko Kido
BACKGROUND: The corrected QT interval (QTc) of electrocardiograms (ECGs) at rest and after exercise in a short daytime recording period may be insufficient for the diagnosis and management of long QT syndrome (LQTS) patients, especially for those with LQTS type 2 and 3. Therefore, examining QTc using Holter ECG is important. We designed a method of analyzing QTc in Holter ECG that can be performed in daily clinical practice by combining automatic and manual measurements. METHODS: We reviewed the charts of healthy children (n=210) and LQTS patients (n=35) aged <16 years and analyzed QTc at rest, after exercise, and the maximum QTc of Holter ECG...
March 25, 2018: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/29574456/modeling-short-qt-syndrome-using-human-induced-pluripotent-stem-cell-derived-cardiomyocytes
#16
Ibrahim El-Battrawy, Huan Lan, Lukas Cyganek, Zhihan Zhao, Xin Li, Fanis Buljubasic, Siegfried Lang, Gökhan Yücel, Katherine Sattler, Wolfram-Hubertus Zimmermann, Jochen Utikal, Thomas Wieland, Ursula Ravens, Martin Borggrefe, Xiao-Bo Zhou, Ibrahim Akin
BACKGROUND: Short QT syndrome (SQTS), a disorder associated with characteristic ECG QT-segment abbreviation, predisposes affected patients to sudden cardiac death. Despite some progress in assessing the organ-level pathophysiology and genetic changes of the disorder, the understanding of the human cellular phenotype and discovering of an optimal therapy has lagged because of a lack of appropriate human cellular models of the disorder. The objective of this study was to establish a cellular model of SQTS using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs)...
March 24, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29525134/thoracoscopic-sympathectomy-for-long-qt-syndrome-literature-review-and-case-study
#17
Timothy L Surman, Robert G Stuklis, Justin C Chan
BACKGROUND: Multiple case studies have suggested that video-assisted thoracoscopic sympathectomy (VATS) reduces the occurrence and frequency of symptoms in long QT syndrome (LQTS) [1,2,3]. To date there has not been a literature review to report on the short-term and long-term outcomes of this procedure. Our primary aims are to review the literature findings on the clinical outcomes of VATS sympathectomy for long QT and present a local centre case report on the outcomes of T2-T5 sympathectomy...
February 13, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29501667/the-diagnosis-and-management-of-short-qt-syndrome
#18
Preben Bjerregaard
Establishing a definition of short QT syndrome (SQTS), including symptomatology and QT-interval duration, is still a work in progress. However, it is clear , that SQTS is a rare, life-threatening, inherited heart disease presenting as sudden cardiac death (SCD) or aborted SCD in 34% and a family history of SCD in 15%. Genetic testing is important in diagnosing the disease, but to date a causative mutation is found in <25%. A benign variety of the disease has been observed in children with atrial fibrillation and a KCNH2-V141M mutation, and recently a mutation in the cardiac Cl/HCO3 exchanger AE3 was found to cause SQTS...
March 2, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29496713/cardiac-channelopathies-recognition-treatment-management
#19
Kathleen T Hickey, Amir Elzomor
The discovery of the human genome has ushered in a new era of molecular testing, advancing our knowledge and ability to identify cardiac channelopathies. Genetic variations can affect the opening and closing of the potassium, sodium, and calcium channels, resulting in arrhythmias and sudden death. Cardiac arrhythmias caused by disorders of ion channels are known as cardiac channelopathies. Nurses are important members of many interdisciplinary teams and must have a general understanding of the pathophysiology of the most commonly encountered cardiac channelopathies, electrocardiogram characteristics, approaches to treatment, and care for patients and their families...
2018: AACN Advanced Critical Care
https://www.readbyqxmd.com/read/29495624/ion-channel-disorders-and-sudden-cardiac-death
#20
REVIEW
Anna Garcia-Elias, Begoña Benito
Long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia are inherited primary electrical disorders that predispose to sudden cardiac death in the absence of structural heart disease. Also known as cardiac channelopathies, primary electrical disorders respond to mutations in genes encoding cardiac ion channels and/or their regulatory proteins, which result in modifications in the cardiac action potential or in the intracellular calcium handling that lead to electrical instability and life-threatening ventricular arrhythmias...
February 28, 2018: International Journal of Molecular Sciences
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