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Arrhythmogenic cardiomyopathy

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https://www.readbyqxmd.com/read/29042423/low-prevalence-of-inappropriate-shocks-in-patients-with-inherited-arrhythmia-syndromes-with-the-subcutaneous-implantable-defibrillator-single-center-experience-and-long-term-follow-up
#1
Boris Rudic, Erol Tülümen, Veronika Berlin, Susanne Röger, Ksenija Stach, Volker Liebe, Ibrahim El-Battrawy, Christina Dösch, Theano Papavassiliu, Ibrahim Akin, Martin Borggrefe, Jürgen Kuschyk
BACKGROUND: Up to 40% of patients with transvenous implantable cardioverter-defibrillator (ICD) experience lead-associated complications and may suffer from high complication rates when lead extraction is indicated. Subcutaneous ICD may represent a feasible alternative; however, the efficacy of the subcutaneous ICD in the detection and treatment of ventricular arrhythmias in patients with hereditary arrhythmia syndromes has not been fully evaluated. METHODS AND RESULTS: Patients with primary hereditary arrhythmia syndromes who fulfilled indication for defibrillator placement were eligible for enrollment...
October 17, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29040463/total-pericardium-agenesis-mistaken-for-arrhythmogenic-right-ventricular-cardiomyopathy
#2
Mikael Laredo, Guillaume Duthoit, Estelle Gandjbakhch, Alban Redheuil, Jean-Louis Hébert
No abstract text is available yet for this article.
October 13, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/29040414/luma-is-not-essential-for-murine-cardiac-development-and-function
#3
Matthew John Stroud, Xi Fang, Jianlin Zhang, Nuno Guimarães-Camboa, Jennifer Veevers, Nancy D Dalton, Yusu Gu, William H Bradford, Kirk L Peterson, Sylvia M Evans, Larry Gerace, Ju Chen
Aims: Luma is a recently discovered, evolutionarily conserved protein expressed in mammalian heart that is associated with the LInker of Nucleoskeleton and Cytoskeleton (LINC) complex. The LINC complex structurally integrates the nucleus and the cytoplasm, and plays a critical role in mechanotransduction across the nuclear envelope. Mutations in several LINC components in both humans and mice result in various cardiomyopathies, implying they play essential, non-redundant roles. A single amino acid substitution of serine 358 to leucine (S358L) in LUMA is the unequivocal cause of a distinct form of arrhythmogenic cardiomyopathy...
October 12, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/29038109/unraveling-missing-genes-and-missing-inheritance-in-arrhythmogenic-cardiomyopathy
#4
EDITORIAL
Suet Nee Chen, Matthew R G Taylor, Luisa Mestroni
No abstract text is available yet for this article.
October 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29038103/large-genomic-rearrangements-of-desmosomal-genes-in-italian-arrhythmogenic-cardiomyopathy-patients
#5
Kalliopi Pilichou, Elisabetta Lazzarini, Ilaria Rigato, Rudy Celeghin, Marzia De Bortoli, Marina Perazzolo Marra, Marco Cason, Jan Jongbloed, Martina Calore, Stefania Rizzo, Daniela Regazzo, Giulia Poloni, Sabino Iliceto, Luciano Daliento, Pietro Delise, Domenico Corrado, J Peter Van Tintelen, Gaetano Thiene, Alessandra Rampazzo, Cristina Basso, Barbara Bauce, Alessandra Lorenzon, Gianluca Occhi
BACKGROUND: Arrhythmogenic cardiomyopathy (AC) is an inherited heart muscle disease associated with point mutations in genes encoding for cardiac desmosome proteins. Conventional mutation screening is positive in ≈50% of probands. Copy number variations (CNVs) have recently been linked to AC pointing to the need to determine the prevalence of CNVs in desmosomal genes and to evaluate disease penetrance by cosegregation analysis in family members. METHODS AND RESULTS: A total of 160 AC genotype-negative probands for 5 AC desmosomal genes by conventional mutation screening underwent multiplex ligation-dependent probe amplification...
October 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29036601/arrhythmogenic-right-ventricular-cardiomyopathy-implications-of-next-generation-sequencing-and-of-mirnas-regulation-in-appropriate-understanding-and-treatment
#6
Salvatore Patanè, Francesco Patanè
No abstract text is available yet for this article.
October 4, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29036525/circulating-micrornas-in-arrhythmogenic-right-ventricular-cardiomyopathy-with-ventricular-arrhythmia
#7
Shinya Yamada, Ya-Wen Hsiao, Shih-Lin Chang, Yenn-Jiang Lin, Li-Wei Lo, Fa-Po Chung, Shuo-Ju Chiang, Yu-Feng Hu, Ta-Chuan Tuan, Tze-Fan Chao, Jo-Nan Liao, Chin-Yu Lin, Yao-Ting Chang, Abigail Louise D Te, Yung-Nan Tsai, Shih-Ann Chen
Aims: MicroRNAs (miRNAs) have been implicated in cardiac diseases. This study aimed to characterize the circulating miRNAs in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) and correlate the miRNAs with the clinical outcomes of ARVC. Methods and results: This study included 62 patients with ventricular arrhythmia (VA): 28 patients (45%) had definite ARVC, 11 (18%) had borderline or possible ARVC, and 23 (37%) had idiopathic ventricular tachycardia (VT)...
September 25, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29034900/generation-of-ipsc-line-from-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-carrying-mutations-in-pkp2-gene
#8
Aleksandr Khudiakov, Daria Kostina, Anna Zlotina, Natalia Yany, Alexey Sergushichev, Tatiana Pervunina, Alexey Tomilin, Anna Kostareva, Anna Malashicheva
Human iPSC line was generated from patient-specific adipose tissue-derived mesenchymal multipotent stromal cells carrying two mutations in plakophilin-2 (PKP2) gene using non-integrative reprogramming method. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai viruses. Pluripotency was confirmed in vitro using immunofluorescence and RT-PCR analysis and in vivo by teratoma assay. The reported iPSC line could be useful tool for in vitro modeling of arrhythmogenic right ventricular cardiomyopathy...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29029613/right-precordial-directed-electrocardiographical-markers-identify-arrhythmogenic-right-ventricular-cardiomyopathy-in-the-absence-of-conventional-depolarization-or-repolarization-abnormalities
#9
Daniel Cortez, Anneli Svensson, Jonas Carlson, Sharon Graw, Nandita Sharma, Francesca Brun, Anita Spezzacatene, Luisa Mestroni, Pyotr G Platonov
BACKGROUND: Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) carries a risk of sudden death. We aimed to assess whether vectorcardiographic (VCG) parameters directed toward the right heart and a measured angle of the S-wave would help differentiate ARVD/C with otherwise normal electrocardiograms from controls. METHODS: Task Force 2010 definite ARVD/C criteria were met for all patients. Those who did not fulfill Task Force depolarization or repolarization criteria (-ECG) were compared with age and gender-matched control subjects...
October 13, 2017: BMC Cardiovascular Disorders
https://www.readbyqxmd.com/read/29024504/high-validity-of-cardiomyopathy-diagnoses-in-western-sweden-1989-2009
#10
Carmen Basic, Annika Rosengren, Sandra Lindström, Maria Schaufelberger
AIM: Hospital discharges with a diagnosis of cardiomyopathy have more than doubled in Sweden since 1987. We validated the cardiomyopathy diagnoses over this time period to investigate that the increase was real and not a result of improved recognition of the diagnosis and better diagnostic methods. METHODS AND RESULTS: Every fifth year from 1989 to 2009, records for all patients with a cardiomyopathy diagnosis were identified by searching the local registers in three hospitals in Västra Götaland, Sweden...
October 11, 2017: ESC Heart Failure
https://www.readbyqxmd.com/read/29018034/a-distinct-cellular-basis-for-early-cardiac-arrhythmias-the-cardinal-manifestation-of-arrhythmogenic-cardiomyopathy-and-the-skin-phenotype-of-cardiocutaneous-syndromes
#11
Jennifer Karmouch, Qiong Q Zhou, Christina Y Miyake, Raffaella Lombardi, Kai Kretzschmar, Marie Bannier-Hélaouët, Hans Clevers, Xander H Wehrens, James T Willerson, Ali J Marian
Rationale: Arrhythmogenic cardiomyopathy (ACM) is caused primarily by mutations in genes encoding desmosome proteins. Ventricular arrhythmias are the cardinal and typically early manifestations, whereas myocardial fibroadiposis is the pathological hallmark. Homozygous DSP (desmoplakin) and JUP (plakoglobin) mutations are responsible for a subset of ACM patients that exhibit cardiac arrhythmias and dysfunction, palmo-planter keratosis, and hair abnormalities (cardiocutaneous syndromes). Objective: To determine phenotypic consequences of deletion of Dsp in a subset of cells common to the heart and skin...
October 10, 2017: Circulation Research
https://www.readbyqxmd.com/read/29016939/molecular-autopsy-of-sudden-unexplained-deaths-reveals-genetic-predispositions-for-cardiac-diseases-among-young-forensic-cases
#12
Nicole Hellenthal, Anna Gaertner-Rommel, Bärbel Klauke, Lech Paluszkiewicz, Markus Stuhr, Thoralf Kerner, Martin Farr, Klaus Püschel, Hendrik Milting
Aims: Coronary artery disease accounts for the majority of sudden cardiac deaths (SCD) in the older population whereas cardiomyopathies and arrhythmogenic abnormalities predominate in younger SCD victims (<35 years) with a significant genetic component. The elucidation of the pathogenetic cause of death might be relevant for the prevention of further deaths within affected families. Aim of this study was to determine the portion of underlying genetic heart diseases among unexplained putative SCD cases from a large German forensic department...
October 17, 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28983804/arrhythmogenic-cardiomyopathy-the-guilty-party-in-adipogenesis
#13
REVIEW
Ilaria Stadiotti, Valentina Catto, Michela Casella, Claudio Tondo, Giulio Pompilio, Elena Sommariva
Arrhythmogenic cardiomyopathy (ACM) is a genetic cardiac condition characterized by the replacement of the ventricular myocardium with fibro-fatty tissue, by arrhythmias and sudden death. Adipogenesis in ACM is considered an aberrant remodeling following myocardial loss. Which cell type(s) is (are) responsible for the adipose replacement is still matter of debate. A systematic overview of the different cells that have been, over time, considered as main players in adipose replacement is provided. The comprehension of the cellular component giving rise to arrhythmogenic cardiomyopathy substrate defects may represent both an essential tool for mechanistic studies of disease pathogenesis and a novel possible therapeutic target...
October 5, 2017: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/28960618/ventricular-tachycardia-ablation-in-arrhythmogenic-right-ventricular-cardiomyopathy-patients-with-tmem43-gene-mutations
#14
Amir Abdelwahab, Martin Gardner, Ratika Parkash, Christopher Gray, John Sapp
INTRODUCTION: Catheter ablation of VT in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) is often challenging, frequently requiring multiple or epicardial ablation procedures; TMEM43 gene mutations typically cause aggressive disease. We sought to compare VT ablation outcomes for ARVC patients with and without TMEM43 mutations. METHODS: Patients with prior ablation for ARVC-related VT were reviewed. Demographic, procedural and follow-up data were reviewed retrospectively...
September 27, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28957535/exercise-and-the-right-ventricle-a-potential-achilles-heel
#15
Andre La Gerche, Dhrubo J Rakhit, Guido Claessen
Exercise is associated with unequivocal health benefits and results in many structural and functional changes of the myocardium that enhance performance and prevent heart failure. However, intense exercise also presents a significant hemodynamic challenge in which the right-sided heart chambers are exposed to a disproportionate increase in afterload and wall stress that can manifest as myocardial fatigue or even damage if intense exercise is sustained for prolonged periods. This review focuses on the physiological factors that result in a disproportionate load on the right ventricle during exercise and the long-term consequences...
October 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28957534/combining-computer-modelling-and-cardiac-imaging-to-understand-right-ventricular-pump-function
#16
John Walmsley, Wouter van Everdingen, Maarten J Cramer, Frits W Prinzen, Tammo Delhaas, Joost Lumens
Right ventricular (RV) dysfunction is a strong predictor of outcome in heart failure and is a key determinant of exercise capacity. Despite these crucial findings, the RV remains understudied in the clinical, experimental, and computer modelling literature. This review outlines how recent advances in using computer modelling and cardiac imaging synergistically help to understand RV function in health and disease. We begin by highlighting the complexity of interactions that make modelling the RV both challenging and necessary, and then summarize the multiscale modelling approaches used to date to simulate RV pump function in the context of these interactions...
October 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28957532/arrhythmogenic-cardiomyopathy-pathology-genetics-and-concepts-in-pathogenesis
#17
Edgar T Hoorntje, Wouter P Te Rijdt, Cynthia A James, Kalliopi Pilichou, Cristina Basso, Daniel P Judge, Connie R Bezzina, J Peter van Tintelen
Arrhythmogenic cardiomyopathy (ACM) is a rare, heritable heart disease characterized by fibro-fatty replacement of the myocardium and a high degree of electric instability. It was first thought to be a congenital disorder, but is now regarded as a dystrophic heart muscle disease that develops over time. There is no curative treatment and current treatment strategies focus on attenuating the symptoms, slowing disease progression, and preventing life-threatening arrhythmias and sudden cardiac death. Identification of mutations in genes encoding desmosomal proteins and in other genes has led to insights into the disease pathogenesis and greatly facilitated identification of family members at risk...
October 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28957531/fibroblasts-and-the-extracellular-matrix-in-right-ventricular-disease
#18
Nikolaos G Frangogiannis
Right ventricular failure predicts adverse outcome in patients with pulmonary hypertension (PH), and in subjects with left ventricular heart failure and is associated with interstitial fibrosis. This review manuscript discusses the cellular effectors and molecular mechanisms implicated in right ventricular fibrosis. The right ventricular interstitium contains vascular cells, fibroblasts, and immune cells, enmeshed in a collagen-based matrix. Right ventricular pressure overload in PH is associated with the expansion of the fibroblast population, myofibroblast activation, and secretion of extracellular matrix proteins...
October 1, 2017: Cardiovascular Research
https://www.readbyqxmd.com/read/28948000/wnt-%C3%AE-catenin-pathway-in-arrhythmogenic-cardiomyopathy
#19
REVIEW
Alessandra Lorenzon, Martina Calore, Giulia Poloni, Leon J De Windt, Paola Braghetta, Alessandra Rampazzo
Wnt/β-catenin signaling pathway plays essential roles in heart development as well as cardiac tissue homoeostasis in adults. Abnormal regulation of this signaling pathway is linked to a variety of cardiac disease conditions, including hypertrophy, fibrosis, arrhythmias, and infarction. Recent studies on genetically modified cellular and animal models document a crucial role of Wnt/β-catenin signaling in the molecular pathogenesis of arrhythmogenic cardiomyopathy (AC), an inherited disease of intercalated discs, typically characterized by ventricular arrhythmias and progressive substitution of the myocardium with fibrofatty tissue...
September 1, 2017: Oncotarget
https://www.readbyqxmd.com/read/28943109/-prevalence-and-spectrum-of-diseases-that-predispose-to-sudden-cardiac-death-in-mexican-children-a-sample-obtained-from-the-children-s-hospital-of-mexico-federico-gomez
#20
Karla Sarahí Cano-Hernández, Santiago Nava-Townsend, Adriana Sánchez-Boiso, Rocío Sánchez-Urbina, Alejandra Contreras-Ramos, Julio Roberto Erdmenger-Orellana, Tania Tamayo-Espinosa, Rosario Becerra-Becerra, Begoña Segura-Stanford, Liborio Solano-Fiesco, Norma Alicia Balderrábano-Saucedo
OBJECTIVE: To determine the prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children and to identify the main early signs and symptoms that can enable the health personnel to suspect about these diseases and to refer the patients to a tertiary hospital in a timely manner. METHODS: Incidence, prevalence and prevalence of period as well as early symptoms, clinical data and follow-up are described in all children found with diseases that predispose to sudden cardiac death at The Children's Hospital of Mexico...
September 22, 2017: Archivos de Cardiología de México
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