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("ECG" OR "EKG") AND "Long QT Syndrome"

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https://www.readbyqxmd.com/read/30244407/identification-novel-lqt-syndrome-associated-variants-in-polish-population-and-genotype-phenotype-correlations-in-eight-families
#1
Małgorzata Szperl, Urszula Kozicka, Agnieszka Kosiec, Piotr Kukla, Marta Roszczynko, Elżbieta Katarzyna Biernacka
Congenital long QT syndrome (LQTS) is a primary cardiac channelopathy. Genetic testing has not only diagnostic but also prognostic and therapeutic implications. At present, 15 genes have been associated with the disease, with most mutations located in 3 major LQTS-susceptibility genes. During a routine genetic screening for KCNQ1, KCNH2 and SCN5A genes in index cases with LQTS, seven novel variants in KCNH2 and SCN5A genes were found. Genotype-phenotype correlations were analysed in these patients and their families...
November 2018: Journal of Applied Genetics
https://www.readbyqxmd.com/read/30227792/cochlear-implantation-in-children-with-congenital-long-qt-syndrome-introduction-of-an-evidence-based-pathway-of-care
#2
Victoria Scott-Warren, Anju Bendon, Iain A Bruce, Lise Henderson, Jacques Diacono
Congenital long QT syndrome (cLQTS) is an inherited cardiac ion channelopathy characterized by a long corrected-QT interval on the ECG, associated with a risk of syncope and sudden death as a result of arrhythmias. The archetypal arrhythmia associated with cLQTS is torsade de pointes which may degenerate into ventricular fibrillation. Children with Jervell and Lange-Neilsen syndrome have the combination of cLQTS and congenital sensorineural deafness and may present for cochlear implantation (CI). Sympathetic stimulation and administration of QT-prolonging medications may trigger arrhythmias in children with cLQTS and thus the perioperative period is a time of increased risk of adverse events, with deaths reported in the CI literature...
November 2018: Cochlear Implants International
https://www.readbyqxmd.com/read/30146672/assessment-of-the-qt-interval-in-athletes-red-flags-and-pitfalls
#3
REVIEW
Nikhil Ahluwalia, Hariharan Raju
PURPOSE OF REVIEW: Pre-participation athlete screening has led to the referral of asymptomatic athletes with a prolonged QT interval warranting their evaluation for long QT syndrome (LQTS). Establishing a diagnosis of LQTS can be difficult, particularly in asymptomatic athletes presenting with a prolonged QTc < 500 ms. This review examines the evaluatory pathway to ascertain the common pitfalls leading to mis- or overdiagnosis. We discuss the advanced ECG-based tools and consider their application in the diagnostic process...
August 27, 2018: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/30132927/electrocardiogram-screening-of-deaf-children-for-long-qt-syndrome-an-egyptian-experience
#4
Sherif Gouda, Mohammed Q Saif, Mohammed Shabana, Sameh Salama, Ahmed Eldamaty
BACKGROUND: Jervell and Lange-Nielsen syndrome is an autosomal recessive form of long QT syndrome (LQTS), clinically manifested by long QT interval and bilateral sensorineural hearing loss (SNHL) with the highest prevalence in Norway and Sweden. No data are available about the prevalence of such syndrome in Egypt. OBJECTIVES: This study aimed to assess by electrocardiogram (ECG) the prevalence of LQTS among Egyptian children with SNHL. METHODS: One thousand and twelve patients, aged ≤ 10 years (mean age 5...
August 22, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/30047504/tentative-screening-criteria-for-short-qt-interval-in-children-and-adolescents
#5
Daisuke Hazeki, Yumiko Ninomiya, Kentaro Ueno, Masao Yoshinaga
BACKGROUND: While the prevalence of short QT syndrome (SQTS) in children and adolescents is low, early detection is important because SQTS can cause life-threatening arrhythmia. The aim of this study was to determine the tentative screening criteria for short QT interval in children and adolescents. Methods and Results: A total of 75,040 digitally stored electrocardiograms (ECG) of participants in a school-based ECG screening program were obtained between 2009 and 2013 in Kagoshima, Japan...
September 25, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/30047011/functional-analysis-of-kcnh2-gene-mutations-of-type-2-long-qt-syndrome-in-larval-zebrafish-using-microscopy-and-electrocardiography
#6
Yoshihiro Tanaka, Kenshi Hayashi, Noboru Fujino, Tetsuo Konno, Hayato Tada, Chiaki Nakanishi, Akihiko Hodatsu, Toyonobu Tsuda, Yoji Nagata, Ryota Teramoto, Shohei Yoshida, Akihiro Nomura, Masa-Aki Kawashiri, Masakazu Yamagishi
Heterologous expression systems play a vital role in the characterization of potassium voltage-gated channel subfamily H member 2 (KCNH2) gene mutations, such as E637K which is associated with long QT syndrome type 2 (LQT2). In vivo assays using zebrafish provide a means for testing genetic variants of cardiac disease; however, limited information on the role of the E637K mutation is available from in vivo systems and their utility has yet to be fully exploited in the context of LQT2. We sought to evaluate the ability of the E637K mutant channel to restore normal repolarization in larval zebrafish with a human KCNH2 orthologue, kcnh2a-knockdown...
July 25, 2018: Heart and Vessels
https://www.readbyqxmd.com/read/30017522/electro-mechanical-dys-function-in-long-qt-syndrome-type-1
#7
David Ziupa, Marius Menza, Susanne Koppermann, Robin Moss, Julia Beck, Gerlind Franke, Stefanie Perez Feliz, Michael Brunner, Sonja Mayer, Heiko Bugger, Gideon Koren, Manfred Zehender, Bernd A Jung, Gunnar Seemann, Daniela Foell, Christoph Bode, Katja E Odening
BACKGROUND: Prolonged repolarization is the hallmark of long QT syndrome (LQTS), which is associated with subclinical mechanical dysfunction. We aimed at elucidating mechanical cardiac function in LQTS type 1 (loss of IKs ) and its modification upon further prolongation of the action potential (AP) by IKr -blockade (E-4031). METHODS: Transgenic LQT1 and wild type (WT) rabbits (n = 12/10) were subjected to tissue phase mapping MRI, ECG, and epicardial AP recording...
July 9, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/30012873/risk-stratification-of-type-2-long-qt-syndrome-mutation-carriers-with-normal-qtc-interval-the-value-of-sex-t-wave-morphology-and-mutation-type
#8
Pyotr G Platonov, Scott McNitt, Bronislava Polonsky, Spencer Z Rosero, Valentina Kutyifa, Allison Huang, Arthur J Moss, Wojciech Zareba
BACKGROUND: Long-QT (LQT) syndrome mutation carriers have higher risk of cardiac events than unaffected family members even in the absence of QTc prolongation. Changes in T-wave morphology may reflect penetrance of LQT syndrome mutations. We aimed to assess whether T-wave morphology may improve risk stratification of LQT2 mutation carriers with normal QTc interval. METHODS: LQT2 mutation carriers with QTc <460 ms in men and <470 ms in women (n=154) were compared with unaffected family members (n=1007)...
July 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29931253/sudden-cardiac-death-in-young-athletes-with-long-qt-syndrome-the-role-of-genetic-testing-and-cardiovascular-screening
#9
Umile Giuseppe Longo, Laura Risi Ambrogioni, Mauro Ciuffreda, Nicola Maffulli, Vincenzo Denaro
Introduction: Sudden cardiac death (SCD) of young athletes during competition or training is a tragic event. The long QT syndrome (LQTS) is an arrythmogenic disorder characterized by prolonged ventricular repolarization leading to torsade de pointes evident at electrocardiogram (ECG). Implantable cardioverter defibrillator is an option to revert ventricular fibrillation to sinus rhythm, although the implantation may result in denial of sports participations to the athlete. The authors reviewed the current literature on LQTS in young athletes, to clarify the role of different screening technologies to prevent SCD...
September 1, 2018: British Medical Bulletin
https://www.readbyqxmd.com/read/29922026/t-wave-alternans-in-long-qt-syndrome
#10
Siddharth Narayan Gadage
Long QT syndrome (LQTS) is a congenital disorder characterized by prolongation of QT interval in the electrocardiogram (ECG) and a propensity to develop ventricular arrhythmias, which may lead to syncope, cardiac arrest or sudden death. T-wave alternans (TWA), a phenomenon of beat-to-beat variability in the repolarization phase of the ventricles, has been closely associated with an increased risk of ventricular tachyarrhythmic events (VTE) and sudden cardiac death (SCD).
May 2018: Annals of Pediatric Cardiology
https://www.readbyqxmd.com/read/29898835/comparison-of-automated-interval-measurements-by-widely-used-algorithms-in-digital-electrocardiographs
#11
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/29860404/for-neonatal-ecg-screening-there-is-no-reason-to-relinquish-old-bazett-s-correction
#12
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)]...
August 14, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29789915/a-potential-diagnostic-approach-for-foetal-long-qt-syndrome-developed-and-validated-in-children
#13
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...
October 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29766267/-syncopes-and-channelopathies
#14
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/29764897/diagnostic-yield-of-genetic-testing-in-young-athletes-with-t-wave-inversion
#15
Nabeel Sheikh, Michael Papadakis, Mathew Wilson, Aneil Malhotra, Carmen Adamuz, Tessa Homfray, Lorenzo Monserrat, Elijah R Behr, Sanjay Sharma
Background -T-wave inversion (TWI) is common in patients with cardiomyopathy. However, up to 25% of athletes of African/Afro-Caribbean descent (black athletes) and 5% of white athletes also have TWI of unclear clinical significance despite comprehensive clinical evaluation and long-term follow-up. The aim of this study was to determine the diagnostic yield from genetic testing, beyond clinical evaluation, when investigating athletes with TWI. Methods -We investigated 50 consecutive asymptomatic black and 50 white athletes aged 14-35-years-old with TWI and a normal echocardiogram who were referred to a UK tertiary center for cardiomyopathy and sports cardiology...
May 15, 2018: Circulation
https://www.readbyqxmd.com/read/29723683/beyond-the-length-and-look-of-repolarization-defining-the-non-qtc-electrocardiographic-profiles-of-patients-with-congenital-long-qt-syndrome
#16
Conor M Lane, J Martijn Bos, Ram K Rohatgi, Michael J Ackerman
BACKGROUND: Little is known about the spectrum and prevalence of ECG features beyond the length and morphology of repolarization in patients with congenital long QT syndrome (LQTS). OBJECTIVE: The purpose of this study was to characterize the full ECG phenotype of LQTS patients and evaluate differences by age and LQTS genotype. METHODS: Retrospective review of 943 patients with LQTS (57% female; median age 25 years; interquartile range 9-34 years) was performed...
September 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29721651/-indications-for-loop-recorder-implantation-for-syncope
#17
REVIEW
Andreas Schuchert
Implantable loop recorder with discontinuous ECG recording enables monitoring of heart rhythm over several years. Consequently, in patients with recurrent syncope it is possible to record an ECG during the next syncopal event to obtain symptom-ECG correlations. In patients with recurrent syncope of unknown origin, the implantation of a loop recorder leads to an earlier diagnosis and an asystole is more often detected as the cause of the recurrent syncope. In addition, the loop recorder identifies patients who will benefit from pacemaker implantation...
June 2018: Herzschrittmachertherapie & Elektrophysiologie
https://www.readbyqxmd.com/read/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#18
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...
June 2018: Der Internist
https://www.readbyqxmd.com/read/29616748/electrocardiographic-t-wave-parameters-in-families-with-long-qt-syndrome
#19
Grażyna Markiewicz-Łoskot, Ewa Moric-Janiszewska, Bogusław Mazurek, Marianna Łoskot, Mariola Bartusek, Agnieszka Skierska, Lesław Szydłowski
BACKGROUND: T-wave parameters, especially the Tpeak-Tend interval (TpTe), reflect the total dispersion of repolarization, whose amplification may lead to the development of life-threatening ventricular arrhythmias observed in the long QT syndrome (LQTS). OBJECTIVES: The study attempted to evaluate QT, QTp (Q-Tpeak) and TpTe (Tpeak-Tend) intervals in unaffected and affected blood relatives of children with clinically confirmed LQTS as well as to determine whether the values of these repolarization parameters may be used in clinical practice...
April 2018: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/29582136/unexplained-cardiac-arrest-a-tale-of-conflicting-interpretations-of-kcnq1-genetic-test-results
#20
Han Chow Chua, Helge Servatius, Babken Asatryan, André Schaller, Claudine Rieubland, Fabian Noti, Jens Seiler, Laurent Roten, Samuel H Baldinger, Hildegard Tanner, Juerg Fuhrer, Andreas Haeberlin, Anna Lam, Stephan A Pless, Argelia Medeiros-Domingo
OBJECTIVE: Unexplained cardiac arrest (UCA) is often the first manifestation of an inherited arrhythmogenic disease. Genetic testing in UCA is challenging due to the complexities of variant interpretation in the absence of supporting cardiac phenotype. We aimed to investigate if a KCNQ1 variant [p.(Pro64_Pro70del)], previously reported as pathogenic, contributes to the long-QT syndrome phenotype, co-segregates with disease or affects KCNQ1 function in vitro. METHODS: DNA was extracted from peripheral blood of a 22-year-old male after resuscitation from UCA...
August 2018: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
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