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Hiro Health Care Practitioners

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58 papers 0 to 25 followers Hiro website
https://www.readbyqxmd.com/read/28591804/arrhythmias-and-sudden-cardiac-death-substrates-monitoring-and-prevention
#1
Thomas F Lüscher
No abstract text is available yet for this article.
June 7, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28500178/electrical-substrate-elimination-in-135-consecutive-patients-with-brugada-syndrome
#2
Carlo Pappone, Josep Brugada, Gabriele Vicedomini, Giuseppe Ciconte, Francesco Manguso, Massimo Saviano, Raffaele Vitale, Amarild Cuko, Luigi Giannelli, Zarko Calovic, Manuel Conti, Paolo Pozzi, Andrea Natalizia, Simonetta Crisà, Valeria Borrelli, Ramon Brugada, Georgia Sarquella-Brugada, Marco Guazzi, Alessandro Frigiola, Lorenzo Menicanti, Vincenzo Santinelli
BACKGROUND: There is emerging evidence that localization and elimination of abnormal electric activity in the epicardial right ventricular outflow tract may be beneficial in patients with Brugada syndrome. METHODS AND RESULTS: A total of 135 symptomatic Brugada syndrome patients having implantable cardiac defibrillator were enrolled: 63 (group 1) having documented ventricular tachycardia (VT)/ventricular fibrillation (VF) and Brugada syndrome-related symptoms, and 72 (group 2) having inducible VT/VF without ECG documentation at the time of symptoms...
May 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28431133/prediction-of-sudden-and-non-sudden-cardiac-death-in-post-infarction-patients-with-reduced-left-ventricular-ejection-fraction-by-periodic-repolarization-dynamics-madit-ii-substudy
#3
Konstantinos D Rizas, Scott McNitt, Wolfgang Hamm, Steffen Massberg, Stefan Kääb, Wojciech Zareba, Jean-Philippe Couderc, Axel Bauer
Aims: To test the value of Periodic Repolarization Dynamics (PRD), a recently validated electrocardiographic marker of sympathetic activity, as a novel approach to predict sudden cardiac death (SCD) and non-sudden cardiac death (N-SCD) and to improve identification of patients that profit from ICD-implantation. Methods and results: We included 856 post-infarction patients with left-ventricular ejection fraction (LVEF) ≤30% of the MADIT-II trial in sinus rhythm...
April 18, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28422759/ryr2r420q-catecholaminergic-polymorphic-ventricular-tachycardia-mutation-induces-bradycardia-by-disturbing-the-coupled-clock-pacemaker-mechanism
#4
Yue Yi Wang, Pietro Mesirca, Elena Marqués-Sulé, Alexandra Zahradnikova, Olivier Villejoubert, Pilar D'Ocon, Cristina Ruiz, Diana Domingo, Esther Zorio, Matteo E Mangoni, Jean-Pierre Benitah, Ana María Gómez
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a lethal genetic arrhythmia that manifests syncope or sudden death in children and young adults under stress conditions. CPVT patients often present bradycardia and sino-atrial node (SAN) dysfunction. However, the mechanism remains unclear. We analyzed SAN function in two CPVT families and in a novel knock-in (KI) mouse model carrying the RyR2R420Q mutation. Humans and KI mice presented slower resting heart rate. Accordingly, the rate of spontaneous intracellular Ca2+ ([Ca2+]i) transients was slower in KI mouse SAN preparations than in WT, without any significant alteration in the "funny" current (If )...
April 20, 2017: JCI Insight
https://www.readbyqxmd.com/read/28405885/sudden-death-due-to-catecholaminergic-polymorphic-ventricular-tachycardia-following-negative-stress-test-outcome-genetics-and-clinical-implications
#5
Cristian D'Ovidio, Aldo Carnevale, Vincenzo M Grassi, Enrica Rosato, Bernat Del Olmo, Monica Coll, Oscar Campuzano, Anna Iglesias, Ramon Brugada, Antonio Oliva
This paper discusses the case of a young boy who died suddenly during a football match. The victim's personal and family medical histories were negative for cardiac events. He had undergone a cardiological investigation some months before his death, enabling him to participate in competitive sports. Only post-mortem molecular analysis allowed for a clearer determination of the most plausible cause of death, which was identified as inherited arrhythmogenic heart disease, known as catecholaminergic polymorphic ventricular tachycardia...
April 13, 2017: Forensic Science, Medicine, and Pathology
https://www.readbyqxmd.com/read/28356308/what-is-the-best-age-for-diagnostic-prediction-of-pediatric-long-qt-syndrome-with-a-borderline-qt-interval
#6
EDITORIAL
Aya Miyazaki, Hiraku Doi
No abstract text is available yet for this article.
April 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28385673/advancements-in-the-use-of-gene-therapy-for-cardiac-arrhythmia
#7
EDITORIAL
Nathaniel P Murphy, Ellen R Lubbers, Peter J Mohler
No abstract text is available yet for this article.
April 4, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28347582/cost-analysis-of-patients-referred-for-inherited-heart-rhythm-disorder-evaluation
#8
Mikyla L Janzen, Christopher Cheung, Shubhayan Sanatani, Taylor Cunningham, Charles Kerr, Christian Steinberg, Elizabeth Sherwin, Laura Arbour, Marc W Deyell, Jason G Andrade, Anna M Lehman, Lorne J Gula, Andrew D Krahn
BACKGROUND: Inherited heart rhythm disorders (IHRDs) are complex and uncommon arrhythmogenic conditions that can lead to sudden unexpected death in seemingly healthy individuals. Multidisciplinary programs can assist in the diagnostic testing of potentially affected individuals and their family members. METHODS: Patients evaluated in a specialized adult and pediatric IHRD clinic between April 2013 and February 2015 were characterized. The total costs per evaluation and diagnosis were calculated...
December 20, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28341781/genotype-phenotype-correlation-of-scn5a-mutation-for-the-clinical-and-electrocardiographic-characteristics-of-probands-with-brugada-syndrome-a-japanese-multicenter-registry
#9
Kenichiro Yamagata, Minoru Horie, Takeshi Aiba, Satoshi Ogawa, Yoshifusa Aizawa, Tohru Ohe, Masakazu Yamagishi, Naomasa Makita, Harumizu Sakurada, Toshihiro Tanaka, Akihiko Shimizu, Nobuhisa Hagiwara, Ryoji Kishi, Yukiko Nakano, Masahiko Takagi, Takeru Makiyama, Seiko Ohno, Keiichi Fukuda, Hiroshi Watanabe, Hiroshi Morita, Kenshi Hayashi, Kengo Kusano, Shiro Kamakura, Satoshi Yasuda, Hisao Ogawa, Yoshihiro Miyamoto, Jamie D Kapplinger, Michael J Ackerman, Wataru Shimizu
BACKGROUND: The genotype-phenotype correlation of SCN5A mutations as a predictor of cardiac events in Brugada syndrome remains controversial. We aimed to establish a registry limited to probands, with a long follow-up period, so that the genotype-phenotype correlation of SCN5A mutations in Brugada syndrome can be examined without patient selection bias. METHODS: This multicenter registry enrolled 415 probands (n=403; men, 97%; age, 46±14 years) diagnosed with Brugada syndrome whose SCN5A gene was analyzed for mutations...
June 6, 2017: Circulation
https://www.readbyqxmd.com/read/28333919/exome-sequencing-based-molecular-autopsy-of-formalin-fixed-paraffin-embedded-tissue-after-sudden-death
#10
Richard D Bagnall, Jodie Ingles, Laura Yeates, Samuel F Berkovic, Christopher Semsarian
PURPOSE: Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome sequencing-based molecular autopsy after sudden death in the young. METHODS: We collected clinical and postmortem information from patients with sudden death...
March 23, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28280076/identification-of-cadherin-2-cdh2-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy
#11
Bongani M Mayosi, Maryam Fish, Gasnat Shaboodien, Elisa Mastantuono, Sarah Kraus, Thomas Wieland, Maria-Christina Kotta, Ashley Chin, Nakita Laing, Ntobeko B A Ntusi, Michael Chong, Christopher Horsfall, Simon N Pimstone, Davide Gentilini, Gianfranco Parati, Tim-Matthias Strom, Thomas Meitinger, Guillaume Pare, Peter J Schwartz, Lia Crotti
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically heterogeneous condition caused by mutations in genes encoding desmosomal proteins in up to 60% of cases. The 40% of genotype-negative cases point to the need of identifying novel genetic substrates by studying genotype-negative ARVC families. METHODS AND RESULTS: Whole exome sequencing was performed on 2 cousins with ARVC. Validation of 13 heterozygous variants that survived internal quality and frequency filters was performed by Sanger sequencing...
April 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28274576/long-term-follow-up-of-probands-with-brugada-syndrome
#12
Carlo de Asmundis, Giacomo Mugnai, Gian-Battista Chierchia, Juan Sieira, Giulio Conte, Moises Rodriguez-Mañero, Gudrun Pappaert, Jens Czapla, Jan Nijs, Mark La Meir, Ruben Casado, Erwin Ströker, Valentina De Regibus, Pedro Brugada
This study analyzes the natural history of a large cohort of probands with Brugada syndrome (BrS) to assess the predictive value of different clinical and electrocardiographic parameters for the development of ventricular fibrillation (VF) or sudden cardiac death (SCD) during a long-term follow-up. Baseline characteristics of 289 consecutive probands (203 men; mean age 45 ± 16 years) with a Brugada type 1 electrocardiogram were analyzed. After a mean follow-up of 10.1 ± 4.6 years, 29 malignant arrhythmias occurred...
May 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28262340/gain-of-function-mutation-in-scn5a-causes-ventricular-arrhythmias-and-early-onset-atrial-fibrillation
#13
Krystien V Lieve, Arie O Verkerk, Svitlana Podliesna, Christian van der Werf, Michael W Tanck, Nynke Hofman, Paul F van Bergen, Leander Beekman, Connie R Bezzina, Arthur A M Wilde, Elisabeth M Lodder
BACKGROUND: Mutations in SCN5A, the gene encoding the α-subunit of the cardiac sodium channel (NaV1.5), are associated with a broad spectrum of inherited cardiac arrhythmia disorders. The purpose of this study was to identify the genetic and functional determinants underlying a Dutch family that presented with a combined phenotype of ventricular arrhythmias with a likely adrenergic component, either in isolation or in combination with a mildly decreased heart function and early onset (<55years) atrial fibrillation...
January 29, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28213480/common-genetic-variant-risk-score-is-associated-with-drug-induced-qt-prolongation-and-torsade-de-pointes-risk-a-pilot-study
#14
David G Strauss, Jose Vicente, Lars Johannesen, Ksenia Blinova, Jay W Mason, Peter Weeke, Elijah R Behr, Dan M Roden, Ray Woosley, Gulum Kosova, Michael A Rosenberg, Christopher Newton-Cheh
BACKGROUND: Drug-induced QT interval prolongation, a risk factor for life-threatening ventricular arrhythmias, is a potential side effect of many marketed and withdrawn medications. The contribution of common genetic variants previously associated with baseline QT interval to drug-induced QT prolongation and arrhythmias is not known. METHODS: We tested the hypothesis that a weighted combination of common genetic variants contributing to QT interval at baseline, identified through genome-wide association studies, can predict individual response to multiple QT-prolonging drugs...
April 4, 2017: Circulation
https://www.readbyqxmd.com/read/28153111/mode-of-death-in-heart-failure-with-preserved-ejection-fraction
#15
REVIEW
Muthiah Vaduganathan, Ravi B Patel, Alexander Michel, Sanjiv J Shah, Michele Senni, Mihai Gheorghiade, Javed Butler
Little is known about specific modes of death in patients with heart failure with preserved ejection fraction (HFpEF). Herein, the authors critically appraise the current state of data and offer potential future directions. They conducted a systematic review of 1,608 published HFpEF papers from January 1, 1985, to December 31, 2015, which yielded 8 randomized clinical trials and 24 epidemiological studies with mode-of-death data. Noncardiovascular modes of death represent an important competing risk in HFpEF...
February 7, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28137981/sudden-cardiac-death-the-pro-arrhythmic-interaction-of-an-acute-loading-with-an-underlying-substrate
#16
George R Sutherland
Sudden cardiac death (SCD) is a complex phenomenon, occurring either in apparently normal individuals or in those where there is a recognized underlying cardiac abnormality. In both groups, the lethal arrhythmia has frequently been related to the physiologic trigger of either exercise or stress. Prior research into SCD has focused mainly on a combination of identifying either vulnerable myocardial substrates; pharmacological approaches to altering electrical activation/repolarisation in substrates; or the suppression of induced lethal arrhythmias with implantable defibrillators...
January 29, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28119333/genetic-insurance-discrimination-in-sudden-arrhythmia-death-syndromes-empirical-evidence-from-a-cross-sectional-survey-in-north-america
#17
Saira Mohammed, Zaneta Lim, Paige H Dean, James E Potts, Jessica N C Tang, Susan P Etheridge, Alice Lara, Pam Husband, Elizabeth D Sherwin, Michael J Ackerman, Shubhayan Sanatani
BACKGROUND: There is virtually no information assessing the insurability of families affected with Sudden Arrhythmia Death Syndromes (SADS) for the determination of the nonclinical implications of genetic screening. It is important to identify the barriers and challenges faced by families as a result of genetic screening for SADS to enable equitable access to insurance coverage. METHODS AND RESULTS: To explore the insurance coverage experiences of SADS-affected families, we administered a cross-sectional online survey across North America from April 28, 2012 to November 13, 2013...
January 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28087426/next-generation-sequencing-of-a-large-gene-panel-in-patients-initially-diagnosed-with-idiopathic-ventricular-fibrillation
#18
Marloes Visser, Dennis Dooijes, Jasper J van der Smagt, Jeroen F van der Heijden, Pieter A Doevendans, Peter Loh, Folkert W Asselbergs, Rutger J Hassink
BACKGROUND: Idiopathic ventricular fibrillation (IVF) is a rare primary cardiac arrhythmia syndrome that is diagnosed in a resuscitated cardiac arrest victim, with documented ventricular fibrillation, in whom no underlying cause is identified after comprehensive clinical evaluation. In some patients, causative genetic mutations are detected that facilitate patient treatment and follow-up. The feasibility of next-generation sequencing (NGS) has increased with its greater availability and decreasing costs...
July 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/28074886/post-mortem-whole-exome-analysis-in-a-large-sudden-infant-death-syndrome-cohort-with-a-focus-on-cardiovascular-and-metabolic-genetic-diseases
#19
Jacqueline Neubauer, Maria Rita Lecca, Giancarlo Russo, Christine Bartsch, Argelia Medeiros-Domingo, Wolfgang Berger, Cordula Haas
Sudden infant death syndrome (SIDS) is described as the sudden and unexplained death of an apparently healthy infant younger than one year of age. Genetic studies indicate that up to 35% of SIDS cases might be explained by familial or genetic diseases such as cardiomyopathies, ion channelopathies or metabolic disorders that remained undetected during conventional forensic autopsy procedures. Post-mortem genetic testing by using massive parallel sequencing (MPS) approaches represents an efficient and rapid tool to further investigate unexplained death cases and might help to elucidate pathogenic genetic variants and mechanisms in cases without a conclusive cause of death...
April 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27998945/new-insights-into-the-genetic-basis-of-inherited-arrhythmia-syndromes
#20
Belinda Gray, Elijah R Behr
No abstract text is available yet for this article.
December 2016: Circulation. Cardiovascular Genetics
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