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J wave syndrome

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https://www.readbyqxmd.com/read/29791480/complex-interactions-in-a-novel-scn5a-compound-mutation-associated-with-long-qt-and-brugada-syndrome-implications-for-na-channel-blocking-pharmacotherapy-for-de-novo-conduction-disease
#1
Jie Liu, Jason D Bayer, Roozbeh Aschar-Sobbi, Marianne Wauchop, Danna Spears, Michael Gollob, Edward J Vigmond, Robert Tsushima, Peter H Backx, Vijay S Chauhan
BACKGROUND: The SCN5A mutation, P1332L, is linked to a malignant form of congenital long QT syndrome, type 3 (LQT3), and affected patients are highly responsive to the Na+ channel blocking drug, mexiletine. In contrast, A647D is an atypical SCN5A mutation causing Brugada syndrome. An asymptomatic male with both P1332L and A647D presented with varying P wave/QRS aberrancy and mild QTc prolongation which did not shorten measurably with mexiletine. OBJECTIVE: We characterized the biophysical properties of P1332L, A647D and wild-type (WT) Na+ channels as well as their combinations in order to understand our proband's phenotype and to guide mexilitine therapy...
2018: PloS One
https://www.readbyqxmd.com/read/29784488/j-wave-syndromes-electrocardiographic-and-clinical-aspects
#2
REVIEW
Silvia G Priori, Carlo Napolitano
Early repolarization, Brugada syndrome, and pathologic J waves have been described for decades, but only recently experimental and clinical data have allowed reconciliation of Brugada and Early Repolarization under the common definition of J-wave syndromes. The concept was derived from studies showing, in both conditions, the presence of transmural dispersion of repolarization, localized conduction abnormalities, and abnormal transition between QRS and ST segment on electrocardiogram. Although several clinical studies have addressed the clinical presentation and epidemiology of J-wave syndromes, relevant knowledge gaps exist...
June 2018: Cardiac Electrophysiology Clinics
https://www.readbyqxmd.com/read/29780332/myoclonic-jerks-and-schizophreniform-syndrome-case-report-and-literature-review
#3
Dominique Endres, Dirk-M Altenmüller, Bernd Feige, Simon J Maier, Kathrin Nickel, Sabine Hellwig, Jördis Rausch, Christiane Ziegler, Katharina Domschke, John P Doerr, Karl Egger, Ludger Tebartz van Elst
Background: Schizophreniform syndromes can be divided into primary idiopathic forms as well as different secondary organic subgroups (e.g., paraepileptic, epileptic, immunological, or degenerative). Secondary epileptic explanatory approaches have often been discussed in the past, due to the high rates of electroencephalography (EEG) alterations in patients with schizophrenia. In particular, temporal lobe epilepsy is known to be associated with schizophreniform symptoms in well-described constellations. In the literature, juvenile myoclonic epilepsy has been linked to emotionally unstable personality traits, depression, anxiety, and executive dysfunction; however, the association with schizophrenia is largely unclear...
2018: Frontiers in Psychiatry
https://www.readbyqxmd.com/read/29775702/abnormal-sleep-architecture-and-hippocampal-circuit-dysfunction-in-a-mouse-model-of-fragile-x-syndrome
#4
Christine E Boone, Heydar Davoudi, Jon B Harrold, David J Foster
Fragile X syndrome (FXS) is the most common heritable cause of intellectual disability and single-gene cause of autism spectrum disorder. The Fmr1 null mouse models much of the human disease including hyperarousal, sensory hypersensitivity, seizure activity, and hippocampus-dependent cognitive impairment. Sleep architecture is disorganized in FXS patients, but has not been examined in Fmr1 knockout (Fmr1-KO) mice. Hippocampal neural activity during sleep, which is implicated in memory processing, also remains uninvestigated in Fmr1-KO mice...
May 15, 2018: Neuroscience
https://www.readbyqxmd.com/read/29750272/gut-microbial-diversity-is-associated-with-lower-arterial-stiffness-in-women
#5
Cristina Menni, Chihung Lin, Marina Cecelja, Massimo Mangino, Maria Luisa Matey-Hernandez, Louise Keehn, Robert P Mohney, Claire J Steves, Tim D Spector, Chang-Fu Kuo, Phil Chowienczyk, Ana M Valdes
Aims: The gut microbiome influences metabolic syndrome (MetS) and inflammation and is therapeutically modifiable. Arterial stiffness is poorly correlated with most traditional risk factors. Our aim was to examine whether gut microbial composition is associated with arterial stiffness. Methods and results: We assessed the correlation between carotid-femoral pulse wave velocity (PWV), a measure of arterial stiffness, and gut microbiome composition in 617 middle-aged women from the TwinsUK cohort with concurrent serum metabolomics data...
May 9, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29747915/prognostic-and-practical-validation-of-current-definitions-of-myocardial-infarction-associated-with-percutaneous-coronary-intervention
#6
Pierluigi Tricoci, L Kristin Newby, Robert M Clare, Sergio Leonardi, C Michael Gibson, Robert P Giugliano, Paul W Armstrong, Frans Van de Werf, Gilles Montalescot, David J Moliterno, Claes Held, Philip E Aylward, Lars Wallentin, Robert A Harrington, Eugene Braunwald, Kenneth W Mahaffey, Harvey D White
OBJECTIVES: In 13,038 patients with non-ST-segment elevation acute coronary syndrome undergoing index percutaneous coronary intervention (PCI) in the EARLY ACS (Early Glycoprotein IIb/IIIa Inhibition in Non-ST-Segment Elevation Acute Coronary Syndrome) and TRACER (Thrombin Receptor Antagonist for Clinical Event Reduction in Acute Coronary Syndrome) trials, the relationship between PCI-related myocardial infarction (MI) and 1-year mortality was assessed. BACKGROUND: The definition of PCI-related MI is controversial...
May 14, 2018: JACC. Cardiovascular Interventions
https://www.readbyqxmd.com/read/29746789/effect-of-carbohydrate-restriction-induced-weight-loss-on-aortic-pulse-wave-velocity-in-overweight-men-and-women
#7
Majid M Syed-Abdul, Qiong Hu, Miriam Jacome-Sosa, Jaume Padilla, Camila Manrique-Acevedo, Colette Heimowitz, Elizabeth J Parks
Increased aortic stiffness, measured by carotid-to-femoral pulse wave velocity (PWV), is an independent predictor of cardiovascular disease (CVD) and past data have shown that low-fat and low-energy diets, fed for 8-24 wks lower PWV. The purpose of this study was to determine whether a reduction in PWV would be achieved by dietary carbohydrate (CHO) restriction, shown to bring about weight loss over a shorter timeframe. Men [n=10, age: 41.8 ± 3.2 y, BMI: 34.2 ± 1.0 kg/m2 (mean±SE)] and women (n=10, age: 38...
May 10, 2018: Applied Physiology, Nutrition, and Metabolism, Physiologie Appliquée, Nutrition et Métabolisme
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
#8
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: 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; IQR 9 - 34 years) was performed. Comprehensive analysis of their initial evaluation ECG was performed using definitions outlined in Heart Rhythm Society guidelines...
April 30, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29719672/abnormal-coherence-and-sleep-composition-in-children-with-angelman-syndrome-a-retrospective-eeg-study
#9
Hanna den Bakker, Michael S Sidorov, Zheng Fan, David J Lee, Lynne M Bird, Catherine J Chu, Benjamin D Philpot
Background: Angelman syndrome (AS) is a neurodevelopmental disorder characterized by intellectual disability, speech and motor impairments, epilepsy, abnormal sleep, and phenotypic overlap with autism. Individuals with AS display characteristic EEG patterns including high-amplitude rhythmic delta waves. Here, we sought to quantitatively explore EEG architecture in AS beyond known spectral power phenotypes. We were motivated by studies of functional connectivity and sleep spindles in autism to study these EEG readouts in children with AS...
2018: Molecular Autism
https://www.readbyqxmd.com/read/29716823/apical-hypertrophic-cardiomyopathy-a-concerning-electrocardiogram-in-the-emergency-department
#10
Patrick J Rogers, Ann-Jeannette Geib, Darren Cuthbert, Grant Wei
BACKGROUND: Apical hypertrophic cardiomyopathy is a rare, complex phenotypic variant of the classically taught hypertrophic cardiomyopathy. It is highly variable in its pathophysiology as well as its clinical course, spanning the spectrum from a healthy asymptomatic lifestyle to sudden cardiac death and severe diastolic dysfunction. The hallmark electrocardiographic findings of unusually large T-wave inversions, in conjunction with the most common presenting symptom being chest pain, makes this disease entity concerning in the emergency department (ED) setting...
April 28, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29684119/aortic-stiffness-in-adolescent-turner-and-marfan-syndrome-patients
#11
Michal Schäfer, Lorna P Browne, Uyen Truong, James J Jaggers, Max B Mitchell, Ladonna Malone, Gareth Morgan, Kathryn Chatfield, Daniel McLennan, Harma Turbendian, Danial Vargas, Brian Fonseca, Michael DiMaria, Anar Shah, Margaret P Ivy, Alex J Barker, Kendall S Hunter, Neil Wilson, D Dunbar Ivy, David N Campbell
OBJECTIVES: Turner syndrome (TS) and Marfan syndrome (MFS) are partially characterized by aortopathies with a risk of developing severe aortic dilation, stiffness and consequent dissection and aneurysm formation. The incidence of a bicuspid aortic valve (BAV) is also increased in TS. We investigated aortic stiffness in teenage TS and MFS patients and evaluated to what degree stiffness in TS patients is augmented by the presence of a BAV. METHODS: Fifty-seven patients with TS (n = 37) and MFS (n = 20), as well as 22 controls with similar age and size distribution underwent evaluation of thoracic aortic stiffness using phase-contrast magnetic resonance imaging...
April 19, 2018: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29651957/serum-uric-acid-elevation-is-associated-to-arterial-stiffness-in-hypertensive-patients-with-metabolic-disturbances
#12
Agustin J Ramirez, Alejandra Ines Christen, Ramiro A Sanchez
INTRODUCTION: Chronic serum uric acid elevation (SUA) is known to be induced by dyslipidemia, hypertension, inflammation, and insulin resistance. Therefore, it has been associated with higher risk for coronary artery disease and cardiovascular mortality. Also, increased levels of SUA have been associated with regional arterial stiffness, assessed by pulse wave velocity (PWV). AIMS: To evaluate the relationships of PWV, SUA and different metabolic parameters in essential hypertensive patients...
April 13, 2018: Current Hypertension Reviews
https://www.readbyqxmd.com/read/29608225/prediction-of-ventricular-tachyarrhythmia-in-brugada-syndrome-by-right-ventricular-outflow-tract-conduction-delay-signs
#13
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Agnes J Q M Muskens, Natasja M S de Groot
BACKGROUND: Brugada syndrome (BrS) is an autosomal dominant disease responsible for sudden cardiac death in young individuals without structural anomalies. The most critical part in management of this channelopathy is identification of high risk patients, especially asymptomatic subjects. Prior studies have shown that conduction delay in the right ventricular outflow tract (RVOT) is the main mechanism for developing ventricular tachyarrhythmia (VTA) in BrS patients. The aim of this study was to investigate the significance of electrocardiographic RVOT conduction delay parameters as predictors for development of VTA in patients with BrS...
April 2, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29512803/attempted-suicide-by-fl%C3%A3-cainide-overdose-a-case-report
#14
Mouna Ben Kilani, Soufia Naccache, Rami Tlili, Dorra Mbarek, Salma Longo, Youssef Ben Ameur, Mohamed Rachid Boujnah
Class Ic antiarrythmic overdose is associated with a relatively high mortality. We presenta case report regarding a suicidal intoxication of an 18-year old female with a medical history of Wolff-Parkinson-White syndrome. The preliminary examination highlighted a profound cardiovascular collapse. The electrocardiogram showed a PR interval extended to 360 ms. The QRS complexes were enlarged to 360 ms with a right bundle brunch block appearance associated with left posterior hemibloc. There were repolarization abnormalities such as elevation of the J-point, convex ST segment and biphasic T wave in the right precordial leads ("Brugada-Like ECG pattern")...
June 2017: La Tunisie Médicale
https://www.readbyqxmd.com/read/29485402/alterations-of-in-vivo-ca1-network-activity-in-dp-16-1yey-down-syndrome-model-mice
#15
Matthieu Raveau, Denis Polygalov, Roman Boehringer, Kenji Amano, Kazuhiro Yamakawa, Thomas J McHugh
Down syndrome, the leading genetic cause of intellectual disability, results from an extra-copy of chromosome 21. Mice engineered to model this aneuploidy exhibit Down syndrome-like memory deficits in spatial and contextual tasks. While abnormal neuronal function has been identified in these models, most studies have relied on in vitro measures. Here, using in vivo recording in the Dp(16)1Yey model, we find alterations in the organization of spiking of hippocampal CA1 pyramidal neurons, including deficits in the generation of complex spikes...
February 27, 2018: ELife
https://www.readbyqxmd.com/read/29476573/transient-left-septal-fascicular-block-in-the-setting-of-acute-coronary-syndrome-associated-with-giant-slurring-variant-j-wave
#16
Andrés Ricardo Pérez-Riera, Raimundo Barbosa-Barros, Wallam Lima Aragão, Rodrigo Daminello-Raimundo, Luiz Carlos de Abreu, Joseane Elza Tonussi Mendes Rossette do Valle, Isabel Cristina Esposito Sorpreso, Kjell Nikus
We report a case of acute coronary syndrome with transient prominent anterior QRS forces (PAF) caused by proximal subocclusion of the left anterior descending (LAD) coronary artery before the first septal perforator branch. The ECG change indicates left septal fascicular block (LSFB) with associated slurring-type giant J-wave. Currently, this J-wave variant is considered as a lambda-like wave or QRS-ST-T "triangulation". Its presence is indicative of poor prognosis because of the risk for cardiac arrest as a consequence of ventricular tachycardia/ventricular fibrillation (VT/VF)...
February 24, 2018: Annals of Noninvasive Electrocardiology
https://www.readbyqxmd.com/read/29436392/significance-of-coronary-artery-spasm-diagnosis-in-patients-with-early-repolarization-syndrome
#17
Tsukasa Kamakura, Mitsuru Wada, Kohei Ishibashi, Yuko Y Inoue, Koji Miyamoto, Hideo Okamura, Satoshi Nagase, Takashi Noda, Takeshi Aiba, Satoshi Yasuda, Wataru Shimizu, Shiro Kamakura, Kengo Kusano
BACKGROUND: Previously described patients with early repolarization syndrome (ERS) may have experienced silent coronary artery spasm (CAS) because the diagnosis of CAS was mainly based on symptoms or coronary angiography findings, without performing a spasm provocation test. This study investigated the significance of CAS diagnosis and evaluated the incidence of silent CAS in patients with possible ERS (ie, idiopathic ventricular fibrillation [VF] and inferolateral J wave). METHODS AND RESULTS: The study included 34 patients with idiopathic VF and inferolateral J wave...
February 7, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29408955/high-androgens-in-postmenopausal-women-and-the-risk-for-atherosclerosis-and-cardiovascular-disease-the-rotterdam-study
#18
Cindy Meun, Oscar H Franco, Klodian Dhana, Loes Jaspers, Taulant Muka, Yvonne Louwers, M Arfan Ikram, Bart C J M Fauser, Maryam Kavousi, Joop S E Laven
Context: Polycystic ovary syndrome (PCOS) is closely linked to hyperandrogenism. In PCOS, hyperandrogenism has been associated with metabolic disturbances which increase the risk for cardiovascular disease (CVD). Objective: To assess the association of high serum androgen levels, as a postmenopausal remnant of PCOS, with the prevalence of atherosclerosis and incidence of CVD in postmenopausal women. Design: The Rotterdam Study, a prospective population-based cohort study...
February 1, 2018: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29408217/autonomic-conflict-exacerbates-long-qt-associated-ventricular-arrhythmias
#19
James Winter, Michael J Tipton, Michael J Shattock
This study tested the hypothesis that concomitant sympathetic and parasympathetic stimulation ("autonomic conflict") may act as a trigger for arrhythmias in long QT syndrome (LQTS). Studies were performed in isolated innervated rabbit hearts treated with clofilium (100 nmol/L); a potassium channel blocker. The influence of vagus nerve stimulation (VNS) on spontaneous ventricular arrhythmias was assessed in the absence/presence of sustained noradrenaline perfusion (100 nmol/L) and with sudden adrenergic stress (injections of noradrenaline into the perfusion line)...
March 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29385733/autosomal-recessive-nrl-mutations-in-patients-with-enhanced-s-cone-syndrome
#20
Karin W Littink, Patricia T Y Stappers, Frans C C Riemslag, Herman E Talsma, Maria M van Genderen, Frans P M Cremers, Rob W J Collin, L Ingeborgh van den Born
Enhanced S-cone syndrome (ESCS) is mainly associated with mutations in the NR2E3 gene. However, rare mutations in the NRL gene have been reported in patients with ESCS. We report on an ESCS phenotype in additional patients with autosomal recessive NRL (ar NRL ) mutations. Three Moroccan patients of two different families with ar NRL mutations were enrolled in this study. The mutation in the DNA of one patient, from a consanguineous marriage, was detected by homozygosity mapping. The mutation in the DNA of two siblings from a second family was detected in a targeted next-generation sequencing project...
January 30, 2018: Genes
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