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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/29697308/emerging-therapeutic-targets-in-the-short-qt-syndrome
#6
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/29648704/abnormal-ventricular-repolarization-in-long-qt-syndrome-carriers-is-related-to-short-left-ventricular-filling-time-and-attenuated-stroke-volume-response-during-exercise
#7
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/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
https://www.readbyqxmd.com/read/29444113/effects-of-protein-protein-interactions-and-ligand-binding-on-the-ion-permeation-in-kcnq1-potassium-channel
#16
Horia Jalily Hasani, Aravindhan Ganesan, Marawan Ahmed, Khaled H Barakat
The voltage-gated KCNQ1 potassium ion channel interacts with the type I transmembrane protein minK (KCNE1) to generate the slow delayed rectifier (IKs) current in the heart. Mutations in these transmembrane proteins have been linked with several heart-related issues, including long QT syndromes (LQTS), congenital atrial fibrillation, and short QT syndrome. Off-target interactions of several drugs with that of KCNQ1/KCNE1 ion channel complex have been known to cause fatal cardiac irregularities. Thus, KCNQ1/KCNE1 remains an important avenue for drug-design and discovery research...
2018: PloS One
https://www.readbyqxmd.com/read/29377987/antiarrhythmic-effect-of-antazoline-in-experimental-models-of-acquired-short-and-long-qt-syndromes
#17
Christian Ellermann, Magdalena Sterneberg, Simon Kochhäuser, Dirk G Dechering, Michael Fehr, Lars Eckardt, Gerrit Frommeyer
Aims: Antazoline is a first-generation antihistamine with antiarrhythmic properties. This study examines potential electrophysiological effects of antazoline in short-QT-syndrome (SQTS) and long-QT-syndrome (LQTS). Methods and results: Sixty-five rabbit hearts were Langendorff-perfused. Action potential duration at 90% of repolarization (APD90), QT-interval, spatial dispersion (DISP), and effective refractory period (ERP) were measured. The IK, ATP-opener pinacidil (1 µM, n = 14) reduced APD90 (-14 ms, P < 0...
January 25, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29372044/novel-frameshift-mutation-in-the-kcnq1-gene-responsible-for-jervell-and-lange-nielsen-syndrome
#18
Azam Amirian, Seyed Mohammad Dalili, Zahra Zafari, Siamak Saber, Morteza Karimipoor, Vahid Akbari, Amir Farjam Fazelifar, Sirous Zeinali
Objectives: Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder caused by mutations in KCNQ1 or KCNE1 genes. The disease is characterized by sensorineural hearing loss and long QT syndrome. Materials and Methods: Here we present a 3.5-year-old female patient, an offspring of consanguineous marriage, who had a history of recurrent syncope and congenital sensorineural deafness. The patient and the family members were screened for mutations in KCNQ1 gene by linkage analysis and DNA sequencing...
January 2018: Iranian Journal of Basic Medical Sciences
https://www.readbyqxmd.com/read/29355047/type-1-long-qt-syndrome-and-psychological-stress-in-a-laboratory-setting
#19
Ilmari Määttänen, Niklas Ravaja, Pentti Henttonen, Sampsa Puttonen, Kristian Paavonen, Heikki Swan, Taina Hintsa
Trait-like sensitivity to stress in long QT syndrome patients has been documented previously. In addition, mental stress has been associated with symptomatic status of long QT syndrome. We examined whether the symptomatic type 1 long QT syndrome patients would be more sensitive to mental stress compared to asymptomatic patients and whether there would be differences in task-related physiological stress reactions between type 1 long QT syndrome patients and healthy individuals. The study population consisted of 21 symptomatic and 23 asymptomatic molecularly defined KCNQ1 mutation carriers, their 32 non-carrier relatives and 46 non-related healthy controls, with mean ages of 37, 39, 35 and 23 years, respectively...
January 1, 2018: Journal of Health Psychology
https://www.readbyqxmd.com/read/29290967/modelling-the-effects-of-chloroquine-on-kcnj2-linked-short-qt-syndrome
#20
Cunjin Luo, Kuanquan Wang, Henggui Zhang
A gain-of-function KCNJ2 D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. Anti-malarial drug chloroquine was reported as an effective inhibitor of Kir2.1 channels. Using biophysically-detailed human ventricle computer models, this study assessed the effects of chloroquine on SQT3. The ten Tusscher et al. model of human ventricular cell action potential was modified to recapitulate functional changes in the inward rectifier K+ current ( I K1 ) due to heterozygous and homozygous forms of the D172N mutation...
December 5, 2017: Oncotarget
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