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Arrhythmogenic cardiomyopathy

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https://www.readbyqxmd.com/read/28726068/cardiac-complications-of-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#1
REVIEW
D Marques-da-Silva, R Francisco, D Webster, V Dos Reis Ferreira, J Jaeken, T Pulinilkunnil
Congenital disorders of glycosylation (CDG) are inborn errors of metabolism due to protein and lipid hypoglycosylation. This rapidly growing family of genetic diseases comprises 103 CDG types, with a broad phenotypic diversity ranging from mild to severe poly-organ -system dysfunction. This literature review summarizes cardiac involvement, reported in 20% of CDG. CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways...
July 19, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28709811/arrhythmic-risk-stratification-in-non-ischemic-dilated-cardiomyopathy-where-do-we-stand-after-danish
#2
REVIEW
Polychronis Dilaveris, Christos-Konstantinos Antoniou, Konstantinos A Gatzoulis
Publication of the DANISH randomized trial led to considerable debate, given that it demonstrated no survival benefit stemming from current implantable cardioverter-defibrillator (ICD) allocation criteria in patients with non-ischemic dilated cardiomyopathy (NIDCM). Consequently, a thorough reconsideration of our approach to sudden cardiac death (SCD)-risk stratification appears to be in order. NIDCM encompasses a wide spectrum of disease entities, often with differing arrhythmogenicity; however, in its kernel, is still defined by the fundamentals of electrophysiology that dictate that abnormal tissue, exhibiting altered electrophysiological properties is necessary for arrhythmogenesis, but not enough, given that formation of functional circuits is required...
June 7, 2017: Trends in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28706583/cardiac-damage-in-athlete-s-heart-when-the-supernormal-heart-fails
#3
REVIEW
Andreina Carbone, Antonello D'Andrea, Lucia Riegler, Raffaella Scarafile, Enrica Pezzullo, Francesca Martone, Raffaella America, Biagio Liccardo, Maurizio Galderisi, Eduardo Bossone, Raffaele Calabrò
Intense exercise may cause heart remodeling to compensate increases in blood pressure or volume by increasing muscle mass. Cardiac changes do not involve only the left ventricle, but all heart chambers. Physiological cardiac modeling in athletes is associated with normal or enhanced cardiac function, but recent studies have documented decrements in left ventricular function during intense exercise and the release of cardiac markers of necrosis in athlete's blood of uncertain significance. Furthermore, cardiac remodeling may predispose athletes to heart disease and result in electrical remodeling, responsible for arrhythmias...
June 26, 2017: World Journal of Cardiology
https://www.readbyqxmd.com/read/28705880/mapping-the-electrical-substrate-in-arrhythmogenic-right-ventricular-cardiomyopathy-there-is-more-than-meets-the-eye
#4
EDITORIAL
Jonathan Chrispin, Fabrizio Assis, Harikrishna Tandri
No abstract text is available yet for this article.
July 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28705875/electrical-and-structural-substrate-of-arrhythmogenic-right-ventricular-cardiomyopathy-determined-using-noninvasive-electrocardiographic-imaging-and-late-gadolinium-magnetic-resonance-imaging
#5
Christopher M Andrews, Neil T Srinivasan, Stefania Rosmini, Heerajnarain Bulluck, Michele Orini, Sharon Jenkins, Antonis Pantazis, William J McKenna, James C Moon, Pier D Lambiase, Yoram Rudy
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a significant cause of sudden cardiac death in the young. Improved noninvasive assessment of ARVC and better understanding of the disease substrate are important for improving patient outcomes. METHODS AND RESULTS: We studied 20 genotyped ARVC patients with a broad spectrum of disease using electrocardiographic imaging (a method for noninvasive cardiac electrophysiology mapping) and advanced late gadolinium enhancement cardiac magnetic resonance scar imaging...
July 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/28705047/galectin-3-correlates-with-arrhythmogenic-right-ventricular-cardiomyopathy-and-predicts-the-risk-of-ventricular-arrhythmias-in-patients-with-implantable-defibrillators
#6
Fahrettin Oz, Imran Onur, Ali Elitok, Evin Ademoglu, Ibrahim Altun, Ahmet Kaya Bilge, Kamil Adalet
Background Arrhythmogenic right ventricular dysplasia (ARVD) is a heritable disorder characterized by fibro-fatty replacement of right ventricular myocytes, increased risk of ventricular arrhythmias, and sudden cardiac death. Galectin-3 (GAL3) is known to play an important role in a number of fibrotic conditions, including cardiac fibrosis. Many studies have focused on the association between GAL3 levels and cardiac fibrosis in heart failure. However, the role of GAL3 in the pathogenesis of ARVD and ventricular arrhythmias has not yet been evaluated thoroughly...
July 14, 2017: Acta Cardiologica
https://www.readbyqxmd.com/read/28703223/unmasking-the-molecular-link-between-arrhythmogenic-cardiomyopathy-and-brugada-syndrome
#7
REVIEW
Javier Moncayo-Arlandi, Ramon Brugada
The intercalated discs that connect cardiomyocytes control cell-to-cell adhesion and communication. Several macromolecular structures (desmosomes, fascia adherens junctions, gap junctions, and sodium-channel complexes) coexist in, and confer their mechanical and electrical properties to, the intercalated disc. Traditionally, each structure was assumed to have a unique function in the intercalated disc. However, growing evidence suggests that these complexes act together in intercellular communication and adhesion, forming a single structural and functional entity - the connexome...
July 13, 2017: Nature Reviews. Cardiology
https://www.readbyqxmd.com/read/28699631/co-inheritance-of-mutations-associated-with-arrhythmogenic-cardiomyopathy-and-hypertrophic-cardiomyopathy
#8
Marzia De Bortoli, Chiara Calore, Alessandra Lorenzon, Martina Calore, Giulia Poloni, Elisa Mazzotti, Ilaria Rigato, Martina Perazzolo Marra, Paola Melacini, Sabino Iliceto, Gaetano Thiene, Cristina Basso, Luciano Daliento, Domenico Corrado, Alessandra Rampazzo, Barbara Bauce
Arrhythmogenic cardiomyopathy (ACM) and hypertrophic cardiomyopathy (HCM) are genetically and phenotypically distinct disorders of the myocardium. Here we describe for the first time co-inheritance of mutations in genes associated with ACM or HCM in two families with recurrence of both cardiomyopathies. Among the double heterozygotes for mutations in desmoplakin (DSP) and myosin binding protein C (MYBPC3) genes identified in Family A, two were diagnosed with ACM and two with HCM. In Family B, one patient was identified to carry mutations in α-T-catenin (CTTNA3) and β-myosin (MYH7) genes, but he does not fulfill the current diagnostic criteria neither for ACM nor for HCM...
July 12, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28699125/uptake-of-predictive-genetic-testing-and-cardiac-evaluation-for-children-at-risk-for-an-inherited-arrhythmia-or-cardiomyopathy
#9
Susan Christian, Joseph Atallah, Robin Clegg, Michael Giuffre, Cathleen Huculak, Tara Dzwiniel, Jillian Parboosingh, Sherryl Taylor, Martin Somerville
Predictive genetic testing in minors should be considered when clinical intervention is available. Children who carry a pathogenic variant for an inherited arrhythmia or cardiomyopathy require regular cardiac screening and may be prescribed medication and/or be told to modify their physical activity. Medical genetics and pediatric cardiology charts were reviewed to identify factors associated with uptake of genetic testing and cardiac evaluation for children at risk for long QT syndrome, hypertrophic cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy...
July 11, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28688053/animal-models-of-arrhythmogenic-right-ventricular-cardiomyopathy-what-have-we-learned-and-where-do-we-go-insight-for-therapeutics
#10
REVIEW
Laura Padrón-Barthe, Fernando Domínguez, Pablo Garcia-Pavia, Enrique Lara-Pezzi
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetically-determined cardiac heart muscle disorder characterized by fibro-fatty replacement of the myocardium that results in heart failure and sudden cardiac death (SCD), predominantly in young males. The disease is often caused by mutations in genes encoding proteins of the desmosomal complex, with a significant minority caused by mutations in non-desmosomal proteins. Existing treatment options are based on SCD prevention with the implantable cardioverter defibrillator, antiarrhythmic drugs, and anti-heart failure medication...
September 2017: Basic Research in Cardiology
https://www.readbyqxmd.com/read/28684747/mir-320a-as-a-potential-novel-circulating-biomarker-of-arrhythmogenic-cardiomyopathy
#11
Elena Sommariva, Yuri D'Alessandra, Floriana Maria Farina, Michela Casella, Fabio Cattaneo, Valentina Catto, Mattia Chiesa, Ilaria Stadiotti, Silvia Brambilla, Antonio Dello Russo, Corrado Carbucicchio, Giulia Vettor, Daniela Riggio, Maria Teresa Sandri, Andrea Barbuti, Gianluca Vernillo, Manuela Muratori, Matteo Dal Ferro, Gianfranco Sinagra, Silvia Moimas, Mauro Giacca, Gualtiero Ivanoe Colombo, Giulio Pompilio, Claudio Tondo
Diagnosis of Arrhythmogenic CardioMyopathy (ACM) is challenging and often late after disease onset. No circulating biomarkers are available to date. Given their involvement in several cardiovascular diseases, plasma microRNAs warranted investigation as potential non-invasive diagnostic tools in ACM. We sought to identify circulating microRNAs differentially expressed in ACM with respect to Healthy Controls (HC) and Idiopathic Ventricular Tachycardia patients (IVT), often in differential diagnosis. ACM and HC subjects were screened for plasmatic expression of 377 microRNAs and validation was performed in 36 ACM, 53 HC, 21 IVT...
July 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28679668/cell-models-of-arrhythmogenic-cardiomyopathy-advances-and-opportunities
#12
REVIEW
Elena Sommariva, Ilaria Stadiotti, Gianluca L Perrucci, Claudio Tondo, Giulio Pompilio
Arrhythmogenic cardiomyopathy is a rare genetic disease that is mostly inherited as an autosomal dominant trait. It is associated predominantly with mutations in desmosomal genes and is characterized by the replacement of the ventricular myocardium with fibrous fatty deposits, arrhythmias and a high risk of sudden death. In vitro studies have contributed to our understanding of the pathogenic mechanisms underlying this disease, including its genetic determinants, as well as its cellular, signaling and molecular defects...
July 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28678556/electroanatomical-mapping-systems-and-intracardiac-echo-integration-for-guided-endomyocardial-biopsy
#13
Michela Casella, Antonio Dello Russo, Giulia Vettor, Giuseppe Lumia, Valentina Catto, Elena Sommariva, Valentina Ribatti, Viviana Biagioli, Fabrizio Tundo, Corrado Carbucicchio, Luigi Di Biase, Andrea Natale, Claudio Tondo
During the past years, endomyocardial biopsy (EMB) has gradually spread into clinical practice. However, the role of EMB in the diagnosis and treatment of cardiovascular diseases remains a controversial issue, especially in the setting of unexplained ventricular arrhythmias. Areas covered: This review describes the methodology of EMB guided by combined use of three-dimensional electroanatomical mapping systems and intracardiac echo and summarizes the classical, fluoroscopy-guided EMB technique. Finally, the personal experience acquired with the 'electrophysiologist-made' integration methodology has been reported...
July 11, 2017: Expert Review of Medical Devices
https://www.readbyqxmd.com/read/28670752/sudden-cardiac-death-in-nonischemic-cardiomyopathy-refining-risk-assessment
#14
REVIEW
Matthew M Zipse, Wendy S Tzou
Sudden cardiac death (SCD) risk assessment among patients with nonischemic cardiomyopathy (NICM) has been has been less straightforward than for patients with ischemic cardiomyopathy. The common surrogate that has been associated with highest SCD risk for all cardiomyopathies, and which has been universally used to guide implantation of primary-prevention implantable cardioverter-defibrillators (ICDs), is left ventricular ejection fraction (LVEF) ≤35%. However, this practice has been called into question, especially in light of recent trials suggesting that ICD treatment may not be of additional survival benefit among those with NICM treated with optimal medical therapy...
July 3, 2017: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/28667170/isolated-cardiac-sarcoidosis-masquerading-as-right-ventricular-outflow-tract-ventricular-tachycardia
#15
Auras R Atreya, Mitkumar Patel, Senthil K Sivalingam, Mathias L Stoenescu
A 67-year-old man with coronary artery disease (CAD) and left anterior descending artery (LAD) stent presented with symptomatic monomorphic ventricular tachycardia (VT) at a rate of 190 bpm requiring cardioversion. ECG showed left bundle branch block pattern and inferior axis, suggestive of a right ventricular outflow tract (RVOT) focus rather than left ventricular scar due to LAD territory myocardial infarction (MI). Echocardiography showed normal wall motion. Angiography revealed a patent mid-LAD stent. Cardiac MRI with delayed postcontrast sequence revealed several regions of hyperenhancement abnormality within the basal portion of the interventricular septum...
June 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28665611/comprehensive-myocardial-proteogenomics-profiling-reveals-c-ebp%C3%AE-as-the-key-factor-in-the-lipid-storage-of-arvc
#16
Liang Chen, Fan Yang, Xiao Chen, Man Rao, Ning-Ning Zhang, Kai Chen, HaiTeng Deng, Jiang-Ping Song, Sheng-Shou Hu
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is hereditary cardiomyopathy characterized by the fibro-fatty replacement of the myocardium. A small number of noncomprehensive profiling studies based on human cardiac tissues have been conducted and reported; consequently, ARVC's gene expression pattern characteristics remain largely undocumented. Our study applies large-scaled, quantitative proteomics based on TMT-labeled LC-MS/MS to analyze the left and right ventricular myocardium of four ARVC and four DCM explanted hearts to compare them with normal hearts...
July 13, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28647112/arrhythmogenic-right-ventricular-cardiomyopathy-in-the-boxer-dog-an-update
#17
REVIEW
Kathryn M Meurs
Arrhythmogenic right ventricular cardiomyopathy is an inheritable form of myocardial disease characterized most commonly by ventricular tachycardias, syncope, and sometimes systolic dysfunction and heart failure. A genetic mutation in the striatin gene has been identified in many affected dogs. Dogs with only one copy of the mutation (heterozygous) have a variable prognosis with many dogs remaining asymptomatic or successfully managed on antiarrhythmic drugs for years. Dogs that are homozygous for the mutation seem to have a worse prognosis...
June 21, 2017: Veterinary Clinics of North America. Small Animal Practice
https://www.readbyqxmd.com/read/28646025/remodeling-of-repolarization-and-arrhythmia-susceptibility-in-a-myosin-binding-protein-c-knockout-mouse-model
#18
Amir Toib, Chen Zhang, Giulia Borghetti, Xiaoxiao Zhang, Markus Wallner, Yijun Yang, Constantine Troupes, Hajime Kubo, Thomas Sharp, Eric Feldsott, Remus M Berretta, Neil Zalavadia, Danielle Trappanese, Shavonn Harper, Polina Gross, Xiongwen Chen, Sadia Mohsin, Steven Houser
Hypertrophic cardiomyopathy (HCM) is one of the most common genetic cardiac diseases and amongst the leading causes of sudden cardiac death (SCD) in the young. The cellular mechanisms leading to SCD in HCM are not well known. Prolongation of the action potential duration (APD) is a common feature predisposing hypertrophied hearts to SCD. Previous studies have explored the roles of inward Na(+) and Ca(2+) in the development of HCM, but the role of repolarizing K(+) currents have not been defined. The objective of this study was to characterize the arrhythmogenic phenotype and cellular electrophysiological properties of mice with HCM, induced by Myosin Binding Protein C (MyBPC) Knockout (KO) and to test the hypothesis that remodeling of repolarizing K(+) currents cause APD prolongation in MyBPC KO myocytes...
June 23, 2017: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/28645928/molecular-mechanisms-in-cardiomyopathy
#19
REVIEW
Keith Dadson, Ludger Hauck, Filio Billia
Cardiomyopathies represent a heterogeneous group of diseases that negatively affect heart function. Primary cardiomyopathies specifically target the myocardium, and may arise from genetic [hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), mitochondrial cardiomyopathy] or genetic and acquired [dilated cardiomyopathy (DCM), restrictive cardiomyopathy (RCM)] etiology. Modern genomics has identified mutations that are common in these populations, while in vitro and in vivo experimentation with these mutations have provided invaluable insight into the molecular mechanisms native to these diseases...
July 1, 2017: Clinical Science (1979-)
https://www.readbyqxmd.com/read/28638576/a-classic-case-of-arrhythmogenic-right-ventricular-cardiomyopathy-arvc-and-literature-review
#20
Htun Latt, Thein Tun Aung, Chanwit Roongsritong, David Smith
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is a relatively under-recognized hereditary cardiomyopathy. It is characterized pathologically by fibro-fatty infiltration of right ventricular (RV) myocardium and clinically by consequences of RV electrical instability. Timely intervention with device therapy and pharmacotherapy may help reduce the risk of arrhythmic events or sudden cardiac death. Here, we describe a classic case of a young adult with ARVC and a brief literature review. The patient presented with exertional palpitations and ARVC was suspected after his routine electrocardiogram (EKG) revealed symmetric T wave inversions and possible epsilon waves in right precordial leads...
March 2017: Journal of Community Hospital Internal Medicine Perspectives
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