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Prolonged QT syndrome

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https://www.readbyqxmd.com/read/28336914/inhibition-of-serum-and-glucocorticoid-regulated-kinase-1-as-novel-therapy-for-cardiac-arrhythmia-disorders
#1
Vassilios J Bezzerides, Aifeng Zhang, Ling Xiao, Bridget Simonson, Santosh A Khedkar, Shiro Baba, Filomena Ottaviano, Stacey Lynch, Katherine Hessler, Alan C Rigby, David Milan, Saumya Das, Anthony Rosenzweig
Alterations in sodium flux (INa) play an important role in the pathogenesis of cardiac arrhythmias and may also contribute to the development of cardiomyopathies. We have recently demonstrated a critical role for the regulation of the voltage-gated sodium channel NaV1.5 in the heart by the serum and glucocorticoid regulated kinase-1 (SGK1). Activation of SGK1 in the heart causes a marked increase in both the peak and late sodium currents leading to prolongation of the action potential duration and an increased propensity to arrhythmia...
March 23, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28335032/allele-specific-ablation-rescues-electrophysiological-abnormalities-in-a-human-ips-cell-model-of-long-qt-syndrome-with-a-calm2-mutation
#2
Yuta Yamamoto, Takeru Makiyama, Takeshi Harita, Kenichi Sasaki, Yimin Wuriyanghai, Mamoru Hayano, Suguru Nishiuchi, Hirohiko Kohjitani, Sayako Hirose, Jiarong Chen, Fumika Yokoi, Taisuke Ishikawa, Seiko Ohno, Kazuhisa Chonabayashi, Hideki Motomura, Yoshinori Yoshida, Minoru Horie, Naomasa Makita, Takeshi Kimura
Background: Calmodulin is a ubiquitous Ca 2+ sensor molecule encoded by three distinct calmodulin genes, CALM1-3 . Recently, mutations in CALM1-3 have been reported to be associated with severe early-onset long-QT syndrome (LQTS). However, the underlying mechanism through which heterozygous calmodulin mutations lead to severe LQTS remains unknown, particularly in human cardiomyocytes. Objectives: We aimed to establish an LQTS disease model associated with a CALM2 mutation (LQT15) using human induced pluripotent stem cells (hiPSCs) and to assess mutant allele-specific ablation by genome editing for the treatment of LQT15...
March 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28323171/acquired-long-qt-syndrome-in-hospitalized-patients
#3
Haixu Yu, Li Zhang, Jinqiu Liu, Ying Liu, Peter R Kowey, Yanli Zhang, Yue Chen, Yushan Wei, Lianjun Gao, Huihua Li, Jie Du, Yunlong Xia
BACKGROUND: Acquired long QT syndrome (ALQTS) has long been overlooked in clinical practice. Recent studies reported that severe ALQTS (QTc ≥500 ms) in hospitalized patients is associated with increased all-cause mortality. OBJECTIVE: We aimed to determine the role of ALQTS in the clinical outcomes of hospitalized patients. METHODS: Electronic medical records were reviewed to identify severe ALQTS in hospitalized patients in a single study center from 9-1-2013 to 2-28-2014...
March 16, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28316956/sudden-infant-death-syndrome-due-to-long-qt-syndrome-a-brief-review-of-the-genetic-substrate-and-prevalence
#4
REVIEW
Nikolaos S Ioakeimidis, Theodora Papamitsou, Soultana Meditskou, Zafiroula Iakovidou-Kritsi
The pathophysiological mechanisms which lead to sudden infant death syndrome (SIDS) are not completely understood. Cardiac channelopathies are a well-established causative factor with long QT syndrome (LQTS) being the most frequent one, accounting for approximately 12% of SIDS cases. The genetic substrate of the above arrhythmogenic syndrome has been thoroughly described but only specific gene mutations or polymorphisms have been identified as SIDS causative. The review will focus on the prevalence of LQTS-induced SIDS or near-SIDS cases and the mutations held responsible...
December 2017: Journal of Biological Research
https://www.readbyqxmd.com/read/28315637/trpm4-non-selective-cation-channel-variants-in-long-qt-syndrome
#5
Thomas Hof, Hui Liu, Laurent Sallé, Jean-Jacques Schott, Corinne Ducreux, Gilles Millat, Philippe Chevalier, Vincent Probst, Romain Guinamard, Patrice Bouvagnet
BACKGROUND: Long QT syndrome (LQTS) is an inherited arrhythmic disorder characterized by prolongation of the QT interval, a risk of syncope, and sudden death. There are already a number of causal genes in LQTS, but not all LQTS patients have an identified mutation, which suggests LQTS unknown genes. METHODS: A cohort of 178 LQTS patients, with no mutations in the 3 major LQTS genes (KCNQ1, KCNH2, and SCN5A), was screened for mutations in the transient potential melastatin 4 gene (TRPM4)...
March 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28274542/hypokalemia-in-women-and-methadone-therapy-are-the-strongest-non-cardiologic-factors-associated-with-qt-prolongation-in-an-emergency-department-setting
#6
Keith A Marill, Emily S Miller
BACKGROUND: Our primary objective was to determine the adjusted quantitative associations of clinical predictors with QT prolongation, a defining cause of Torsades de Pointes (TdP). METHODS: A retrospective cohort study was performed on consecutive emergency department patients identified by ECG acquisition date, and heart rate corrected QT (QTc) and QRS durations. QTc was modeled as a function of clinical predictors with multiple linear regression. RESULTS: 1010 patients were included...
February 10, 2017: Journal of Electrocardiology
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
#7
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/28249770/long-qt-syndrome-and-left-ventricular-noncompaction-in-4-family-members-across-2-generations-with-kcnq1-mutation
#8
Mira Kharbanda, Amanda Hunter, Stephen Tennant, David Moore, Stephanie Curtis, Jules C Hancox, Victoria Murday
The association of long QT syndrome and left ventricular noncompaction is uncommon, with only a handful of previous reports, and only one reported case in association with a mutation in KCNQ1. Here we present genetic and phenotypic data for 4 family members across 2 generations who all have evidence of prolonged QT interval and left ventricular noncompaction in association with a pathogenic mutation in KCNQ1, and discuss the potential mechanisms of this association. In conclusion, we suggest that it may be helpful to consider looking for mutations in KCNQ1 in similar patients...
February 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28235848/patients-with-long-qt-syndrome-due-to-impaired-herg-encoded-kv11-1-potassium-channel-have-exaggerated-endocrine-pancreatic-and-incretin-function-associated-with-reactive-hypoglycemia
#9
Louise Hyltén-Cavallius, Eva W Iepsen, Nicolai J Wewer Albrechtsen, Mathilde Svendstrup, Anniek F Lubberding, Bolette Hartmann, Thomas Jespersen, Allan Linneberg, Michael Christiansen, Henrik Vestergaard, Oluf Pedersen, Jens J Holst, Jørgen K Kanters, Torben Hansen, Signe S Torekov
Background -Loss-of-function mutations in hERG (encoding the Kv11.1 voltage-gated potassium channel) cause long QT syndrome (LQT2) due to prolonged cardiac repolarization. However, Kv11.1 is also present in pancreatic α and β cells and intestinal L and K cells, secreting glucagon, insulin, and the incretins glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic polypeptide (GIP), respectively. These hormones are crucial for glucose regulation and LQTS may cause disturbed glucose regulation. We measured secretion of these hormones and cardiac repolarization in response to glucose ingestion in LQT2 patients with functional mutations in hERG and matched healthy participants, testing the hypothesis that LQT2 patients have increased incretin and β cell- and decreased α cell function and thus lower glucose levels...
February 24, 2017: Circulation
https://www.readbyqxmd.com/read/28213505/revealing-the-concealed-nature-of-long-qt-type-3-syndrome
#10
Amara Greer-Short, Sharon A George, Steven Poelzing, Seth H Weinberg
BACKGROUND: Gain-of-function mutations in the voltage-gated sodium channel (Nav1.5) are associated with the long-QT-3 (LQT3) syndrome. Nav1.5 is densely expressed at the intercalated disk, and narrow intercellular separation can modulate cell-to-cell coupling via extracellular electric fields and depletion of local sodium ion nanodomains. Models predict that significantly decreasing intercellular cleft widths slows conduction because of reduced sodium current driving force, termed "self-attenuation...
February 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28212739/individualized-corrected-qt-interval-is-superior-to-qt-interval-corrected-using-the-bazett-formula-in-predicting-mutation-carriage-in-families-with-long-qt-syndrome
#11
Tomas Robyns, Rik Willems, Bert Vandenberk, Joris Ector, Christophe Garweg, Cuno Kuiperi, Jeroen Breckpot, Anniek Corveleyn, Stefan Janssens, Hein Heidbuchel, Dieter Nuyens
BACKGROUND: Long QT syndrome (LQTS) is characterized by reduced penetrance and variable QT prolongation over time, resulting in an estimate of 25% carriers of a pathogenic mutation with a normal corrected QT (QTc) interval on the resting electrocardiogram (ECG). OBJECTIVE: The purpose of this study was to test the hypothesis that an individualized corrected QT interval derived from 24-hour Holter data more accurately predicts carriage of a pathogenic LQTS mutation than did QT derived from a standard 12-lead ECG and corrected using the Bazett formula (QTc interval)...
March 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#12
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28209348/effects-of-metabolically-healthy-and-unhealthy-obesity-on-prolongation-of-corrected-qt-interval
#13
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...
January 25, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28193195/assessing-the-burden-of-treatment-emergent-adverse-events-associated-with-atypical-antipsychotic-medications
#14
Pierre-Michel Llorca, Christophe Lançon, Ann Hartry, T Michelle Brown, Dana B DiBenedetti, Siddhesh A Kamat, Clément François
BACKGROUND: Treatment of schizophrenia and major depressive disorder (MDD) with atypical antipsychotics (AAPs) show improved efficacy and reduced side effect burden compared with older antipsychotic medications. However, a risk of treatment-emergent adverse events (TEAEs) remains. TEAEs are hard to quantify and perspectives on the importance of TEAEs differ across patients and between patients and physicians. The current study is a qualitative assessment that investigates TEAEs of AAPs from both patient and physician perspectives to provide better understanding of the occurrence and burden of TEAEs associated with these medications...
February 13, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28174642/prolonged-qt-interval-and-cardiac-arrest-after-a-single-dose-of-amiodarone-in-a-woman-with-turner-s-syndrome
#15
Dorte Guldbrand Nielsen, Jens Cosedis Nielsen, Christian Trolle, Claus Højbjerg Gravholt, Niels Holmark Andersen
Low-dose QT-prolonging drugs may have detrimental effects on women with Turner's syndrome. Preventive measures would be to use potential QT-prolonging drugs with precaution and ensure that both before and during treatment, ECGs are evaluated and drug treatment stopped if the QT interval increases.
February 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28155223/evaluation-of-prolonged-qt-interval-structural-heart-disease-mimicking-long-qt-syndrome
#16
Adaya Weissler-Snir, Michael H Gollob, Vijay Chauhan, Melanie Care, Danna A Spears
BACKGROUND: In about 20-25% of patients with congenital long QT syndrome (LQTS) a causative pathogenic mutation is not found. The aim of this study was to explore the prevalence of alternative cardiac diagnoses among patients exhibiting prolongation of QT interval with negative genetic testing for LQTS genes. METHODS: We conducted a retrospective analysis of 239 consecutive patients who were evaluated in the inherited arrhythmia clinic at the Toronto General Hospital between July 2013 and December 2015 for possible LQTS...
February 3, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28127218/recurrent-takotsubo-with-prolonged-qt-and-torsade-de-pointes-and-left-ventricular-thrombus
#17
REVIEW
Alaa Eldin K Ahmed, Abdulhalim Serafi, Nadia S Sunni, Hussein Younes, Walid Hassan
Takotsubo cardiomyopathy, also known as "takotsubo syndrome," refers to transient apical ballooning syndrome, stress cardiomyopathy, or broken heart syndrome and is a recently recognized syndrome typically characterized by transient and reversible left ventricular dysfunction that develops in the setting of acute severe emotional or physical stress. Increased catecholamine levels have been proposed to play a central role in the pathogenesis of the disease, although the specific pathophysiology of this condition remains to be fully determined...
January 2017: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/28062938/mineral-metabolism-and-cardiovascular-disease-in-ckd
#18
REVIEW
Hideki Fujii, Nobuhiko Joki
The mineral bone disorder of CKD, called Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD), has a major role in the etiology and progression of cardiovascular disease in CKD patients. Since the main emphasis in CKD-MBD is on three categories (bone abnormalities, laboratory abnormalities, and vascular calcifications), we have routinely accepted ectopic cardiovascular calcifications as a central risk factor in the pathophysiology of CKD-MBD for cardiac events. However, recent compelling evidence suggests that some CKD-MBD-specific factors other than vascular calcification might contribute to the onset of cardiovascular disease...
March 2017: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/28009315/differences-in-ecg-characteristics-and-co-morbidities-among-patients-who-underwent-elective-surgical-repair
#19
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/27996317/cardiac-arrest-with-clozapine-and-olanzapine-revealing-long-qt-syndrome
#20
Edward Woloszyn, Nishant Whig, Eileen Trigoboff, Jeffery J Grace
The authors describe a rare case of "concealed" congenital Long QT Syndrome (LQTS) Type 3 in a patient with treatment resistant schizophrenia and no known personal or family history of cardiac disease. The patient in this Case Report had a hidden genetic condition revealed only following the essential administration of antipsychotics. As a result, this patient experienced an aborted cardiac arrest and a total of five episodes of ventricular tachycardia (VT) requiring cardioversion. Successful control of the VT occurred with an Automatic Internal Defibrillator (AID), judicious use of antipsychotic medications, and anti-arrhythmic medications...
December 20, 2016: Clinical Schizophrenia & related Psychoses
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