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Arrhythmogenic cardiomyopathy

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https://www.readbyqxmd.com/read/29684120/atrial-fibrillation-in-patients-with-inherited-cardiomyopathies
#1
Cynthia Yeung, Andres Enriquez, Laiden Suarez-Fuster, Adrian Baranchuk
Atrial fibrillation (AF) often complicates the course of inherited cardiomyopathies and, in some cases, may be the presenting feature. Each inherited cardiomyopathy has its own peculiar pathogenetic characteristics that can contribute to the development and maintenance of AF. Atrial fibrillation may occur as a consequence of disease-specific defects, non-specific cardiac chamber changes secondary to the primary illness, or a combination thereof. The presence of AF can denote a turning point in the progression of the disease, promoting clinical deterioration and increasing morbidity and mortality...
April 19, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29678777/a-10-year-review-of-sudden-death-during-sporting-activities
#2
Mark Dennis, Alexander Elder, Christopher Semsarian, John Orchard, Isabel Brouwer, Rajesh Puranik
BACKGROUND: Sudden death during sport is a rare but devastating event. Previous research has mostly focused on sudden deaths in young competitive athletes. OBJECTIVE: To characterise the demographics and aetiology of sudden cardiac death (SCD) during sport in Australia. METHODS: All autopsies conducted at our forensic medicine facility between the years 2006-2015 (inclusive) were reviewed. Sporting related deaths amongst those 7-65 years of age were identified...
April 17, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29659777/number-of-pregnancies-and-subsequent-phenotype-in-a-cross-sectional-cohort-of-women-with-arrhythmogenic-cardiomyopathy
#3
Anna I Castrini, Øyvind H Lie, Ida S Leren, Mette E Estensen, Mathis K Stokke, Lars G Klæboe, Thor Edvardsen, Kristina H Haugaa
Aims: We aimed to assess the relation between number of pregnancies and cardiac structure, function, and arrhythmic events in women with arrhythmogenic cardiomyopathy (AC). Methods and results: We included female AC patients in a cross-sectional study. Number of pregnancies and pregnancy related symptoms were recorded. Ventricular arrhythmias were defined as aborted cardiac arrest, sustained ventricular tachycardia, or appropriate implantable cardioverter-defibrillator therapy...
April 6, 2018: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29652902/relations-between-right-ventricular-morphology-and-clinical-electrical-and-genetic-parameters-in-brugada-syndrome
#4
Belinda Gray, Ganesh Kumar Gnanappa, Richard D Bagnall, Giuseppe Femia, Laura Yeates, Jodie Ingles, Charlotte Burns, Rajesh Puranik, Stuart M Grieve, Christopher Semsarian, Raymond W Sy
BACKGROUND: Increasing evidence suggests the presence of structural changes affecting the right ventricular outflow tract (RVOT) in patients with Brugada Syndrome (BrS). The aim of this study was to characterise the RV morphology in BrS and explore associations between morphologic, clinical, electrical, and genetic parameters using non-invasive multimodality testing. METHODS: Consecutive BrS patients (recruited 2013-2015) underwent clinical assessment, dedicated RV imaging using cardiac magnetic resonance (CMR) imaging (unless contra-indicated), electrical assessment (electrocardiogram, Holter monitoring, signal-averaged ECG[SAECG]) and genotyping...
2018: PloS One
https://www.readbyqxmd.com/read/29650543/rbm20-mutations-induce-an-arrhythmogenic-dilated-cardiomyopathy-related-to-disturbed-calcium-handling
#5
Maarten M G van den Hoogenhof, Abdelaziz Beqqali, Ahmad S Amin, Ingeborg van der Made, Simona Aufiero, Mohsin A F Khan, Cees A Schumacher, Joeri A Jansweijer, Karin Y van Spaendonck-Zwarts, Carol Ann Remme, Johannes Backs, Arie O Verkerk, Antonius Baartscheer, Yigal M Pinto, Esther E Creemers
Background -Mutations in RBM20 cause a clinically aggressive form of dilated cardiomyopathy (DCM), with an increased risk of malignant ventricular arrhythmias. RBM20 is a splicing factor that targets multiple pivotal cardiac genes, such as Titin (TTN) and Calcium/calmodulin-dependent kinase II delta (CAMK2D). Aberrant TTN splicing is thought to be the main determinant of RBM20-induced DCM, but is not likely to explain the increased risk of arrhythmias. Here, we investigated the extent at which RBM20 mutation carriers have an increased risk of arrhythmias and explore the underlying molecular mechanism...
April 12, 2018: Circulation
https://www.readbyqxmd.com/read/29628478/arrhythmogenic-right-ventricular-cardiomyopathy-with-multiple-thrombi-and-ventricular-tachycardia-of-atypical-left-branch-bundle-block-morphology
#6
Shenzhen Gong, Xin Wei, Guyue Liu, Feng Wu, Xiaoping Chen
A 61-year-old male patient was admitted to our hospital with recurrent palpitations and syncope. Electrocardiography, echocardiography, and contrast-enhanced computed tomography were performed. The patient was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC) complicated by multiple thrombi, and ventricular tachycardia (VT) without typical left bundle branch block (LBBB) morphology. This case suggests that VT is not always the sole contributor to syncope and death in patients with ARVC, and pulmonary embolism should be considered...
April 6, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29622970/sudden-cardiac-death-with-triple-pathologies-a-case-report
#7
R Razuin, F Nurquin, M N Shahidan, M N Julina
Sudden cardiac death in young adults may be associated with rare cardiomyopathies such as left ventricular noncompaction (LVNC) and arrhythmogenic right ventricular (ARVC) cardiomyopathies. LVNC is characterised by hypertrabeculations and deep recesses of the left ventricle. ARVC presents with thin myocardium as a result of extensive fibro-fatty infiltrations. In both conditions, death may be due to arrhythmia, thromboembolic events or heart failure. We report a case of a 21-year old athletic young man who collapsed at the futsal court right after the game...
June 2017: Egypt Heart J
https://www.readbyqxmd.com/read/29619572/-recognizing-rare-cardiac-diseases-by-electrocardiogram
#8
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...
April 4, 2018: Der Internist
https://www.readbyqxmd.com/read/29606362/usefulness-of-genetic-study-by-next-generation-sequencing-in-high-risk-arrhythmogenic-cardiomyopathy
#9
Amalio Ruiz Salas, José Peña Hernández, Carmen Medina Palomo, Alberto Barrera Cordero, Fernando Cabrera Bueno, José Manuel García Pinilla, Ana Guijarro, Luis Morcillo-Hidalgo, Manuel Jiménez Navarro, Juan José Gómez Doblas, Eduardo de Teresa, Javier Alzueta
INTRODUCTION AND OBJECTIVES: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by progressive fibrofatty replacement of predominantly right ventricular myocardium. This cardiomyopathy is a frequent cause of sudden cardiac death in young people and athletes. The aim of our study was to determine the incidence of pathological or likely pathological desmosomal mutations in patients with high-risk definite ARVC. METHODS: This was an observational, retrospective cohort study, which included 36 patients diagnosed with high-risk ARVC in our hospital between January 1998 and January 2015...
March 29, 2018: Revista Española de Cardiología
https://www.readbyqxmd.com/read/29574980/blockade-of-the-renin-angiotensin-aldosterone-system-in-patients-with-arrhythmogenic-right-ventricular-dysplasia-a-double-blind-multicenter-prospective-randomized-genotype-driven-study-brave-study
#10
Elodie Morel, Ab Waheed Manati, Patrice Nony, Delphine Maucort-Boulch, Francis Bessière, Xu Cai, Timothee Besseyre des Horts, Alexandre Janin, Adrien Moreau, Phillippe Chevalier
Arrhythmogenic right ventricular dysplasia (ARVD) is a rare cardiomyopathy characterized by the progressive replacement of cardiomyocytes by fatty and fibrous tissue in the right ventricle (RV). These infiltrations lead to cardiac electrical instability and ventricular arrhythmia. Current treatment for ARVD is empirical and essentially based on treatment of arrhythmia. Thus, there is no validated treatment that will prevent the deterioration of RV function in patients with ARVD. The aim of the BRAVE study is to evaluate the effect of ramipril, an angiotensin-converting enzyme inhibitor, on ventricular myocardial remodeling and arrhythmia burden in patients with ARVD...
March 25, 2018: Clinical Cardiology
https://www.readbyqxmd.com/read/29574594/endomyocardial-biopsy-at-the-time-of-ablation-or-device-implantation
#11
Ammar M Killu, Nishaki Mehta, Qi Zheng, Piotr Sobieszczyk, Usha B Tedrow, William G Stevenson, Roy M John
PURPOSE: Cardiomyopathies frequently lead to conduction system disease and/or arrhythmias necessitating device therapy, catheter ablation, or both. Endomyocardial biopsy (EMB) is avoided with recent right ventricle (RV) lead implants and optimal timing is uncertain. We determined outcomes of EMB at the time of ablation or device implantation procedures. METHODS: We retrospectively analyzed patients undergoing EMB during their electrophysiological procedure between January 2014 and July 2016...
March 24, 2018: Journal of Interventional Cardiac Electrophysiology: An International Journal of Arrhythmias and Pacing
https://www.readbyqxmd.com/read/29566126/electrical-dysfunctions-in-human-induced-pluripotent-stem-cell-derived-cardiomyocytes-from-a-patient-with-an-arrhythmogenic-right-ventricular-cardiomyopathy
#12
Ibrahim El-Battrawy, Zhihan Zhao, Huan Lan, Lukas Cyganek, Christoph Tombers, Xin Li, Fanis Buljubasic, Siegfried Lang, Malte Tiburcy, Wolfram-Hubertus Zimmermann, Jochen Utikal, Thomas Wieland, Martin Borggrefe, Xiao-Bo Zhou, Ibrahim Akin
Aims: Our aim is to investigate the arrhythmogenic mechanism in arrhythmogenic right ventricular cardiomyopathy (ARVC)-patients by using human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs). Methods and results: Human-induced pluripotent stem cell-derived cardiomyocytes were generated from human skin fibroblasts of two healthy donors and an ARVC-patient with a desmoglein-2 (DSG2) mutation. Patch clamp, quantitative polymerase chain reaction, and calcium imaging techniques were employed for the study...
March 16, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29561320/genetic-cardiomyopathies
#13
Jane E Wilcox, Ray E Hershberger
PURPOSE OF REVIEW: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). RECENT FINDINGS: The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine...
March 19, 2018: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/29559248/role-of-mir-452-5p-in-the-tumorigenesis-of-prostate-cancer-a-study-based-on-the-cancer-genome-atl-tcga-gene-expression-omnibus-geo-and-bioinformatics-analysis
#14
Li Gao, Li-Jie Zhang, Sheng-Hua Li, Li-Li Wei, Bin Luo, Rong-Quan He, Shuang Xia
BACKGROUND: MiR-452-5p has been reported to be down-regulated in prostate cancer, affecting the development of this type of cancer. However, the molecular mechanism of miR-452-5p in prostate cancer remains unclear. Therefore, we investigated the network of target genes of miR-452-5p in prostate cancer using bioinformatics analyses. MATERIALS AND METHODS: We first analyzed the expression profiles and prognostic value of miR-452-5p in prostate cancer tissues from a public database...
March 6, 2018: Pathology, Research and Practice
https://www.readbyqxmd.com/read/29558214/preliminary-assessment-of-a-novel-14-day-electrocardiographic-adhesive-patch-monitor-in-dogs
#15
Jonathan Lichtenberger, Kathryn M Meurs, Etienne Côté
Cardiac arrhythmias often are transient and might not be detected using conventional electrocardiographic (ECG) techniques. The adhesive patch monitor (APM) is a single-lead, lightweight, up to 14-day continuous ambulatory ECG monitor. This study aimed to prospectively assess its usability in four boxer dogs considered either to be healthy or to have arrhythmogenic right ventricular cardiomyopathy. Optimal recording was obtained by placing the APM on the left side of the animal's thorax, at the fifth intercostal space, slightly dorsal to the costochondral junction, and oriented either vertically or parallel to the long axis of the heart...
March 20, 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29553539/isolation-and-characterization-of-cardiac-mesenchymal-stromal-cells-from-endomyocardial-bioptic-samples-of-arrhythmogenic-cardiomyopathy-patients
#16
Chiara Assunta Pilato, Ilaria Stadiotti, Angela Serena Maione, Valentina Saverio, Valentina Catto, Fabrizio Tundo, Antonio Dello Russo, Claudio Tondo, Giulio Pompilio, Michela Casella, Elena Sommariva
A normal adult heart is composed of several different cell types, among which cardiac mesenchymal stromal cells represent an abundant population. The isolation of these cells offers the possibility of studying their involvement in cardiac diseases, and, in addition, provides a useful primary cell model to investigate biological mechanisms. Here, the method for the isolation of C-MSC from arrhythmogenic cardiomyopathy patients' bioptic samples is described. The endomyocardial biopsy sampling is guided in the right ventricular areas adjacent to the scar visualized by electro-anatomical mapping...
February 28, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29550522/diagnostic-value-and-prognostic-implications-of-early-cardiac-magnetic-resonance-in-survivors-of-out-of-hospital-cardiac-arrest
#17
Alessandro Zorzi, Angela Susana, Manuel De Lazzari, Federico Migliore, Giovanni Vescovo, Daniele Scarpa, Anna Baritussio, Giuseppe Tarantini, Luisa Cacciavillani, Benedetta Giorgi, Cristina Basso, Sabino Iliceto, Chiara Bucciarelli Ducci, Domenico Corrado, Martina Perazzolo Marra
BACKGROUND: In patients who survived out-of-hospital cardiac arrest (OHCA) it is crucial to establish the underlying cause and its potential reversibility. OBJECTIVE: We assessed the incremental diagnostic and prognostic role of early cardiac magnetic resonance (CMR) in survivors of OHCA. METHODS: Among 139 consecutive OHCA patients, we enrolled 44 (median age 43 years; 84% males) patients who underwent coronary angiography and CMR ≤7 days after admission...
March 14, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29550321/reveal-the-concealed-the-quest-for-early-disease-detection-in-family-members-at-risk-of-developing-arrhythmogenic-cardiomyopathy
#18
EDITORIAL
Kristina H Haugaa, Øyvind H Lie
No abstract text is available yet for this article.
March 12, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29550307/the-prognostic-value-of-right-ventricular-deformation-imaging-in-early-arrhythmogenic-right-ventricular-cardiomyopathy
#19
Thomas P Mast, Karim Taha, Maarten J Cramer, Joost Lumens, Jeroen F van der Heijden, Berto J Bouma, Maarten P van den Berg, Folkert W Asselbergs, Pieter A Doevendans, Arco J Teske
OBJECTIVES: The aim of this study was to investigate the prognostic value of echocardiographic deformation imaging in arrhythmogenic right ventricular cardiomyopathy (ARVC) to optimize family screening protocols. BACKGROUND: ARVC is characterized by variable disease expressivity among family members, which complicates family screening protocols. Previous reports have shown that echocardiographic deformation imaging detects abnormal right ventricular (RV) deformation in the absence of established disease expression in ARVC...
March 9, 2018: JACC. Cardiovascular Imaging
https://www.readbyqxmd.com/read/29545358/electrocardiographic-repolarization-abnormalities-and-electroanatomic-substrate-in-arrhythmogenic-right-ventricular-cardiomyopathy
#20
Maciej Kubala, Rajeev K Pathak, Shuanglun Xie, Ruben Casado Arroyo, Cory M Tschabrunn, Tatsuya Hayashi, Fermin C Garcia, Gregory E Supple, Pasquale Santangeli, David S Frankel, Erica S Zado, David J Callans, Francis E Marchlinski
BACKGROUND: Repolarization abnormalities in arrhythmogenic right ventricular (RV) cardiomyopathy and their relationship to ventricular tachycardia substrate are incompletely understood. METHODS AND RESULTS: In 40 patients (29 men, mean age 38 years) with arrhythmogenic RV cardiomyopathy, we compared the extent and location of abnormal T (NegT) waves ≥1 mm in depth (n=32) and downsloping elevated ST segment (n=13), in ≥2 adjacent leads, to area and location of endocardial bipolar (<1...
March 2018: Circulation. Arrhythmia and Electrophysiology
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