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Prolonged QT syndrome

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https://www.readbyqxmd.com/read/28213505/revealing-the-concealed-nature-of-long-qt-type-3-syndrome
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27935442/psychosis-after-switch-in-opioid-maintenance-agonist-and-risperidone-induced-pisa-syndrome-two-critical-incidents-in-dual-diagnosis-treatment
#12
Manuel Sutter, Marc Walter, Kenneth M Dürsteler, Johannes Strasser, Marc Vogel
BACKGROUND AND AIMS: Dual diagnosis commonly occurs among patients with an opioid use disorder. Treatment is ideally performed in an integrated fashion. We present a case that illustrates the complex and challenging psychiatric and medical therapy of such patients in the light of the literature. CASE DESCRIPTION: We report on a 56-year-old patient with schizophrenia and opioid dependence who experienced both risperidone-induced Pisa syndrome and, 3 years later, acute psychosis after switching the opioid substitution medication from methadone to slow-release oral morphine due to QT prolongation...
December 9, 2016: Journal of Dual Diagnosis
https://www.readbyqxmd.com/read/27903879/the-analysis-of-qt-interval-and-repolarization-morphology-of-the-heart-in-chronic-exposure-to-lead
#13
J Kiełtucki, M Dobrakowski, N Pawlas, B Średniawa, M Boroń, S Kasperczyk
There are no common recommendations regarding electrocardiographic monitoring in occupationally exposed workers. Therefore, the present study was designed to investigate whether exposure to lead results in an increase of selected electrocardiography (ECG) pathologies, such as QT interval prolongation and repolarization disorders, in occupationally exposed workers. The study group included 180 workers occupationally exposed to lead compounds. The exposed group was divided according to the median of the mean blood lead level (PbBmean) calculated based on a series of measurements performed during 5-year observation period (35 µg/dl) into two subgroups: low exposure (LE, PbBmean = 20...
November 30, 2016: Human & Experimental Toxicology
https://www.readbyqxmd.com/read/27903458/cardiac-arrest-among-patients-with-infections-causes-clinical-practice-and-research-implications
#14
REVIEW
D Leoni, J Rello
The incidence of sepsis is increasing, and the condition is now the leading cause of death in general intensive care units. Our review failed to identify studies of the causes of cardiac arrest among infected patients, even though non-cardiac causes represent 15% of out-of-hospital cardiac arrests and though one-third of events have positive blood cultures. Sudden cardiac arrest is the result of local damage to the heart and of the impact of systemic and pulmonary conditions on cardiac performance, and its danger is underestimated...
November 27, 2016: Clinical Microbiology and Infection
https://www.readbyqxmd.com/read/27899087/paradoxical-physiological-responses-to-propranolol-in-a-rett-syndrome-patient-a-case-report
#15
P J Santosh, L Bell, K Lievesley, J Singh, F Fiori
BACKGROUND: Rett Syndrome (RTT), caused by a loss-of-function in the epigenetic modulator: X-linked methyl-CpG binding protein 2 (MeCP2), is a pervasive neurological disorder characterized by compromised brain functions, anxiety, severe mental retardation, language and learning disabilities, repetitive stereotyped hand movements and developmental regression. An imbalance in the sympathetic and the parasympathetic nervous system (dysautonomia) and the resulting autonomic storms is a frequent occurrence in patients with RTT...
November 29, 2016: BMC Pediatrics
https://www.readbyqxmd.com/read/27878411/reckless-administration-of-qt-interval-prolonging-agents-in-elderly-patients-with-drug-induced-torsade-de-pointes
#16
Galia Jackobson, Narin Nard Carmel, Dor Lotan, Anjelika Kremer, Dan Justo
A systematic review was conducted for all published case reports on drug-induced torsade de pointes (TdP) in elderly (≥80 years) patients to study if the administration of the offending agent was reckless. Overall, 61 reports on drug-induced TdP in patients aged 80-97 years were included in the analysis. Non-modifiable risk factors for drug-induced TdP (e.g. acute coronary syndrome, female gender and congestive heart failure), modifiable risk factors (e.g. hypokalemia, severe hypomagnesemia and digitalis toxicity) and reckless administration of a QT interval-prolonging agent (e...
November 22, 2016: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/27871843/considerations-when-using-next-generation-sequencing-for-genetic-diagnosis-of-long-qt-syndrome-in-the-clinical-testing-laboratory
#17
Hyojin Chae, Jiyeon Kim, Gun Dong Lee, Woori Jang, Joonhong Park, Dong Wook Jekarl, Yong Seog Oh, Myungshin Kim, Yonggoo Kim
BACKGROUND: Congenital long-QT syndrome (LQTS) is a potentially lethal cardiac electrophysiologic disorder characterized by QT interval prolongation and T-wave abnormalities. At least 13 LQTS-associated genes have been reported, but the high cost and low throughput of conventional Sanger sequencing has hampered the multi-gene-based LQTS diagnosis in clinical laboratories. METHODS: We developed an NGS (next-generation sequencing)-based targeted gene panel for 13 LQTS genes using the Ion PGM platform, and a cohort of 36 LQTS patients were studied for characterization of analytical performance specifications...
January 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/27861123/tecrl-a-new-life-threatening-inherited-arrhythmia-gene-associated-with-overlapping-clinical-features-of-both-lqts-and-cpvt
#18
Harsha D Devalla, Roselle Gélinas, Elhadi H Aburawi, Abdelaziz Beqqali, Philippe Goyette, Christian Freund, Marie-A Chaix, Rafik Tadros, Hui Jiang, Antony Le Béchec, Jantine J Monshouwer-Kloots, Tom Zwetsloot, Georgios Kosmidis, Frédéric Latour, Azadeh Alikashani, Maaike Hoekstra, Jurg Schlaepfer, Christine L Mummery, Brian Stevenson, Zoltan Kutalik, Antoine Af de Vries, Léna Rivard, Arthur Am Wilde, Mario Talajic, Arie O Verkerk, Lihadh Al-Gazali, John D Rioux, Zahurul A Bhuiyan, Robert Passier
Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole-exome sequencing (WES) was carried out on patients from three different families that presented with life-threatening arrhythmias and high risk of sudden cardiac death (SCD). Two French Canadian probands carried identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans-2,3-enoyl-CoA reductase-like protein. Both patients had cardiac arrest, stress-induced atrial and ventricular tachycardia, and QT prolongation on adrenergic stimulation...
December 1, 2016: EMBO Molecular Medicine
https://www.readbyqxmd.com/read/27826330/management-of-patients-with-long-qt-syndrome
#19
REVIEW
Yongkeun Cho
Long QT syndrome (LQTS) is a rare cardiac channelopathy associated with syncope and sudden death due to torsades de pointes and ventricular fibrillation. Syncope and sudden death are frequently associated with physical and emotional stress. Management of patients with LQTS consists of life-style modification, β-blockers, left cardiac sympathetic denervation (LCSD), and implantable cardioverter-defibrillator (ICD) implantation. Prohibition of competitive exercise and avoidance of QT-prolonging drugs are important issues in life-style modification...
November 2016: Korean Circulation Journal
https://www.readbyqxmd.com/read/27805004/mir-19b-regulates-ventricular-action-potential-duration-in-zebrafish
#20
Alexander Benz, Mandy Kossack, Dominik Auth, Claudia Seyler, Edgar Zitron, Lonny Juergensen, Hugo A Katus, David Hassel
Sudden cardiac death due to ventricular arrhythmias often caused by action potential duration (APD) prolongation is a common mode of death in heart failure (HF). microRNAs, noncoding RNAs that fine tune gene expression, are frequently dysregulated during HF, suggesting a potential involvement in the electrical remodeling process accompanying HF progression. Here, we identified miR-19b as an important regulator of heart function. Zebrafish lacking miR-19b developed severe bradycardia and reduced cardiac contractility...
November 2, 2016: Scientific Reports
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