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Long qt syndrome

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https://www.readbyqxmd.com/read/28198403/noninvasive-quantification-of-blood-potassium-concentration-from-ecg-in-hemodialysis-patients
#1
Cristiana Corsi, Marilisa Cortesi, Giulia Callisesi, Johan De Bie, Carlo Napolitano, Antonio Santoro, David Mortara, Stefano Severi
Blood potassium concentration ([K(+)]) influences the electrocardiogram (ECG), particularly T-wave morphology. We developed a new method to quantify [K(+)] from T-wave analysis and tested its clinical applicability on data from dialysis patients, in whom [K(+)] varies significantly during the therapy. To elucidate the mechanism linking [K(+)] and T-wave, we also analysed data from long QT syndrome type 2 (LQT2) patients, testing the hypothesis that our method would have underestimated [K(+)] in these patients...
February 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28196901/novel-variant-in-the-ank2-membrane-binding-domain-is-associated-with-ankyrin-b-syndrome-and-structural-heart-disease-in-a-first-nations-population-with-a-high-rate-of-long-qt-syndrome
#2
Leigh Anne Swayne, Nathaniel P Murphy, Sirisha Asuri, Lena Chen, Xiaoxue Xu, Sarah McIntosh, Chao Wang, Peter J Lancione, Jason D Roberts, Charles Kerr, Shubhayan Sanatani, Elizabeth Sherwin, Crystal F Kline, Mingjie Zhang, Peter J Mohler, Laura T Arbour
BACKGROUND: Long QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT syndrome is ≈15× more common in First Nations of Northern British Columbia largely because of a known mutation in KCNQ1. However, 2 large multigenerational families were affected, but negative for the known mutation. METHODS AND RESULTS: Long QT syndrome panel testing was carried out in the index case of each family, and clinical information was collected...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28182551/fetal-qt-interval-estimation-using-sequential-hypothesis-testing
#3
Suhong Yu, Barry VanVeen, William Lutter, Ronald Wakai
OBJECTIVE: Recent studies utilizing fetal magnetocardiography have demonstrated the efficacy of corrected QT interval (QTc) measurement for in utero diagnosis and prognosis of long QT syndrome, a leading cause of sudden death in early life. The objective of the study was to formulate and test a novel statistical estimation method to detect the end of the fetal T-wave and thereby improve the accuracy of fetal QT interval measurement. METHODS: To detect the end of the T-wave we apply a sequential composite hypothesis test to decide when the T-wave has returned to baseline...
February 2, 2017: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/28182238/evolving-concepts-for-the-long-qt-syndrome
#4
Peter J Schwartz
No abstract text is available yet for this article.
January 21, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28176637/personalized-medicine-applied-to-forensic-sciences-new-advances-and-perspectives-for-a-tailored-forensic-approach
#5
Alessandro Santurro, Anna Maria Vullo, Marina Borro, Giovanna Gentile, Raffaele La Russa, Maurizio Simmaco, Paola Frati, Vittorio Fineschi
Personalized medicine (PM), included in P5 medicine (Personalized, Predictive, Preventive, Participative and Precision medicine) is an innovative approach to the patient, emerging from the need to tailor and to fit the profile of each individual. PM promises to dramatically impact also on forensic sciences and justice system in ways we are only beginning to understand. The application of omics (genomic, transcriptomics, epigenetics/imprintomics, proteomic and metabolomics) is ever more fundamental in the so called "molecular autopsy"...
February 7, 2017: Current Pharmaceutical Biotechnology
https://www.readbyqxmd.com/read/28158429/elucidating-arrhythmogenic-mechanisms-of-long-qt-syndrome-calm1-f142l-mutation-in-patient-specific-induced-pluripotent-stem-cell-derived-cardiomyocytes
#6
Marcella Rocchetti, Luca Sala, Lisa Dreizehnter, Lia Crotti, Daniel Sinnecker, Manuela Mura, Luna Simona Pane, Claudia Altomare, Eleonora Torre, Gaspare Mostacciuolo, Stefano Severi, Alberto Porta, Gaetano M De Ferrari, Alfred L George, Peter J Schwartz, Massimiliano Gnecchi, Alessandra Moretti, Antonio Zaza
No abstract text is available yet for this article.
February 2, 2017: Cardiovascular Research
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/28150739/alterations-in-the-carnitine-cycle-in-a-mouse-model-of-rett-syndrome
#8
Sabrina Mucerino, Anna Di Salle, Nicola Alessio, Sabrina Margarucci, Raffaella Nicolai, Mariarosa A B Melone, Umberto Galderisi, Gianfranco Peluso
Rett syndrome (RTT) is a neurodevelopmental disease that leads to intellectual deficit, motor disability, epilepsy and increased risk of sudden death. Although in up to 95% of cases this disease is caused by de novo loss-of-function mutations in the X-linked methyl-CpG binding protein 2 gene, it is a multisystem disease associated also with mitochondrial metabolic imbalance. In addition, the presence of long QT intervals (LQT) on the patients' electrocardiograms has been associated with the development of ventricular tachyarrhythmias and sudden death...
February 2, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28146053/cardiac-channelopathies-and-sudden-death-recent-clinical-and-genetic-advances
#9
REVIEW
Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Josep Brugada, Ramon Brugada, Oscar Campuzano
Sudden cardiac death poses a unique challenge to clinicians because it may be the only symptom of an inherited heart condition. Indeed, inherited heart diseases can cause sudden cardiac death in older and younger individuals. Two groups of familial diseases are responsible for sudden cardiac death: cardiomyopathies (mainly hypertrophic cardiomyopathy, dilated cardiomyopathy, and arrhythmogenic cardiomyopathy) and channelopathies (mainly long QT syndrome, Brugada syndrome, short QT syndrome, and catecholaminergic polymorphic ventricular tachycardia)...
January 29, 2017: Biology
https://www.readbyqxmd.com/read/28138202/treating-an-adolescent-with-long-qt-syndrome-for-bipolar-disorder-a-case-presentation
#10
Özlem Önen, Ayşe Kutlu, Handan Özek Erkuran
OBJECTIVES: Long QT syndrome (LQTS) is described as the development of sudden syncope attacks or death as a result of ventricular tachycardia (VT) episodes that might be observed as elongated QT interval in electrocardiography (ECG). Implantable Cardioverter Defibrillator (ICD) is recommended as first-line treatment for the condition in guidelines. We aimed to present an adolescent recently diagnosed with Bipolar Disorder (BD) who had LQTS that was treated with ICD, discussing her follow up and treatment along with relevant literature...
January 26, 2017: Psychopharmacology Bulletin
https://www.readbyqxmd.com/read/28110572/-cardiomyopathy-and-ion-channel-diseases-registry-the-szeged-cardiogen-registry
#11
Péter Blazsó, Kornél Kákonyi, Tamás Forster, Róbert Sepp
The Szeged cardiomyopathy and ion channel diseases registry aims to establish a representative disease-specific registry based on the recruitment of patients with different cardiomyopathies and ion channel diseases followed at the Cardiology Center, University of Szeged. The registry collects patient data on the main forms of primary cardiomyopathies (hypertrophic, dilated, restrictive, arrhythmogenic right ventricular, left ventricular non-compact, tako-tsubo cardiomyopathy) and ion channel diseases (long QT syndrome, short QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia)...
January 2017: Orvosi Hetilap
https://www.readbyqxmd.com/read/28102360/modification-of-distinct-ion-channels-differentially-modulates-ca-2-dynamics-in-primary-cultured-rat-ventricular-cardiomyocytes
#12
Xichun Li, Liping Shen, Fang Zhao, Xiaohan Zou, Yuwei He, Fan Zhang, Chunlei Zhang, Boyang Yu, Zhengyu Cao
Primary cultured cardiomyocytes show spontaneous Ca(2+) oscillations (SCOs) which not only govern contractile events, but undergo derangements that promote arrhythmogenesis through Ca(2+) -dependent mechanism. We systematically examined influence on SCOs of an array of ion channel modifiers by recording intracellular Ca(2+) dynamics in rat ventricular cardiomyocytes using Ca(2+) specific fluorescence dye, Fluo-8/AM. Voltage-gated sodium channels (VGSCs) activation elongates SCO duration and reduces SCO frequency while inhibition of VGSCs decreases SCO frequency without affecting amplitude and duration...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28096388/competition-of-calcified-calmodulin-n-lobe-and-pip2-to-an-lqt-mutation-site-in-kv7-1-channel
#13
William Sam Tobelaim, Meidan Dvir, Guy Lebel, Meng Cui, Tal Buki, Asher Peretz, Milit Marom, Yoni Haitin, Diomedes E Logothetis, Joel Alan Hirsch, Bernard Attali
Voltage-gated potassium 7.1 (Kv7.1) channel and KCNE1 protein coassembly forms the slow potassium current IKS that repolarizes the cardiac action potential. The physiological importance of the IKS channel is underscored by the existence of mutations in human Kv7.1 and KCNE1 genes, which cause cardiac arrhythmias, such as the long-QT syndrome (LQT) and atrial fibrillation. The proximal Kv7.1 C terminus (CT) binds calmodulin (CaM) and phosphatidylinositol-4,5-bisphosphate (PIP2), but the role of CaM in channel function is still unclear, and its possible interaction with PIP2 is unknown...
January 31, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28066143/acepromazine-inhibits-herg-potassium-ion-channels-expressed-in-human-embryonic-kidney-293-cells
#14
Young Shin Joo, Hong Joon Lee, Jin-Sung Choi, Ki-Wug Sung
The effects of acepromazine on human ether-à-go-go-related gene (hERG) potassium channels were investigated using whole-cell voltage-clamp technique in human embryonic kidney (HEK293) cells transfected with hERG. The hERG currents were recorded with or without acepromazine, and the steady-state and peak tail currents were analyzed for the evaluating the drug effects. Acepromazine inhibited the hERG currents in a concentration-dependent manner with an IC50 value of 1.5 µM and Hill coefficient of 1.1. Acepromazine blocked hERG currents in a voltage-dependent manner between -40 and +10 mV...
January 2017: Korean Journal of Physiology & Pharmacology
https://www.readbyqxmd.com/read/28055993/-fever-and-sudden-death-a-reality-illustrative-case-report
#15
Carlos Rodríguez-Artuza, Juan Osorio, Freddy Madueño, Agustín Payares
The connection between fever and sudden death due to ventricular tachycardia has been usually reported in Brugada Syndrome. However the thermosensitive effects caused by fever have been recently described as a possible cause of sudden death in congenital long QT type II syndrome and in idiopathic ventricular fibrillation syndrome. We present a case where fever unmasked a congenital long QT type II syndrome.
November 21, 2016: Medwave
https://www.readbyqxmd.com/read/28049825/tbx20-controls-the-expression-of-the-kcnh2-gene-and-of-herg-channels
#16
Ricardo Caballero, Raquel G Utrilla, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, David Tinaquero, Silvia Alfayate, Paloma Nieto-Marín, Guadalupe Guerrero-Serna, Qing-Hua Liu, Roberto Ramos-Mondragón, Daniela Ponce-Balbuena, Todd Herron, Katherine F Campbell, David Filgueiras-Rama, Rafael Peinado, José L López-Sendón, José Jalife, Eva Delpón, Juan Tamargo
Long QT syndrome (LQTS) exhibits great phenotype variability among family members carrying the same mutation, which can be partially attributed to genetic factors. We functionally analyzed the KCNH2 (encoding for Kv11.1 or hERG channels) and TBX20 (encoding for the transcription factor Tbx20) variants found by next-generation sequencing in two siblings with LQTS in a Spanish family of African ancestry. Affected relatives harbor a heterozygous mutation in KCNH2 that encodes for p.T152HfsX180 Kv11.1 (hERG). This peptide, by itself, failed to generate any current when transfected into Chinese hamster ovary (CHO) cells but, surprisingly, exerted "chaperone-like" effects over native hERG channels in both CHO cells and mouse atrial-derived HL-1 cells...
January 17, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28039126/are-olympic-athletes-free-from-cardiovascular-diseases-systematic-investigation-in-2352-participants-from-athens-2004-to-sochi-2014
#17
Antonio Pelliccia, Paolo Emilio Adami, Filippo Quattrini, Maria Rosaria Squeo, Stefano Caselli, Luisa Verdile, Viviana Maestrini, Fernando Di Paolo, Cataldo Pisicchio, Roberto Ciardo, Antonio Spataro
CONTEXT: Olympic athletes represent model of success in our society, by enduring strenuous conditioning programmes and achieving astonishing performances. They also raise scientific and clinical interest, with regard to medical care and prevalence of cardiovascular (CV) abnormalities. OBJECTIVE: Our aim was to assess the prevalence and type of CV abnormalities in this selected athlete's cohort. DESIGN, SETTING AND PARTICIPANTS: 2352 Olympic athletes, mean age 25±6, 64% men, competing in 31 summer or 15 winter sports, were examined with history, physical examination, 12-lead and exercise ECG and echocardiography...
February 2017: British Journal of Sports Medicine
https://www.readbyqxmd.com/read/28024120/ion-channels-long-qt-syndrome-and-arrhythmogenesis-in-ageing
#18
Kamalan Jeevaratnam, Karan R Chadda, Samantha C Salvage, Haseeb Valli, Shiraz Ahmad, Andrew A Grace, Christopher L-H Huang
Ageing is associated with increased prevalences of both atrial and ventricular arrhythmias, reflecting disruption of the normal sequence of ion channel activation and inactivation generating the propagated cardiac action potential. Experimental models with specific ion channel genetic modifications have helped clarify the interacting functional roles of ion channels and how their dysregulation contributes to arrhythmogenic processes at the cellular and systems level. They have also investigated interactions between these ion channel abnormalities and age-related processes in producing arrhythmic tendency...
December 26, 2016: Clinical and Experimental Pharmacology & Physiology
https://www.readbyqxmd.com/read/28012188/video-assisted-thoracoscopic-left-cardiac-sympathetic-denervation-in-patients-with-hereditary-ventricular-arrhythmias
#19
Se Yong Jang, Yongkeun Cho, Nam Kyun Kim, Chang-Yeon Kim, Jihyun Sohn, Jae-Hyung Roh, Myung Hwan Bae, Jang Hoon Lee, Dong Heon Yang, Hun Sik Park, Shung Chull Chae, Tak-Hyuk Oh, Gun Jik Kim
BACKGROUND: Left cardiac sympathetic denervation (LCSD) has been underutilized in patients with hereditary ventricular arrhythmia syndromes such as congenital long QT syndrome (LQTS) and catecholaminergic polymorphic ventricular tachycardia (CPVT). The purpose of this study was to investigate the safety and efficacy of video-assisted thoracoscopic (VATS) LCSD in such patients. METHODS: Fifteen patients (4 men, 24.6 ± 10.5 years old) who underwent VATS-LCSD between November 2010 and January 2015 for hereditary ventricular arrhythmia syndromes at Kyungpook National University Hospital were enrolled in this study...
December 24, 2016: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28011106/a-novel-scn5a-mutation-found-in-a-familial-case-of-long-qt-syndrome-complicated-by-severe-left-ventricular-dysfunction
#20
Mai Kimura, Takashi Kohno, Yoshiyasu Aizawa, Taku Inohara, Yasuyuki Shiraishi, Yoshinori Katsumata, Toru Egashira, Hiroyuki Fukushima, Kenjiro Kosaki, Keiichi Fukuda
A 16-year-old boy with long QT syndrome type 3 (LQT3) was admitted for decompensated heart failure resulting from dilated cardiomyopathy (DCM). His brother was also diagnosed with LQT3 and DCM. A comprehensive genetic analysis identified a novel SCN5A missense mutation-p.Q371E-in these 2 affected living family members. It might be important to suspect the coexistence of DCM and LQT3 (which is rare according to previous articles) in cases with this novel SCN5A missense mutation.
October 20, 2016: Canadian Journal of Cardiology
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