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Arrhythmogenic cardiomyopathy

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https://www.readbyqxmd.com/read/29456632/arrhythmogenic-cardiomyopathy-identification-of-desmosomal-gene-variations-and-desmosomal-protein-expression-in-variation-carriers
#1
Li Wang, Shenghua Liu, Hongliang Zhang, Shengshou Hu, Yingjie Wei
Arrhythmogenic cardiomyopathy (AC) is an inherited disorder that is predominantly present in the right ventricular myocardium. Mutations in the genes encoding the desmosomal protein are thought to underlie the pathogenesis of AC. Since AC is genetically heterogeneous and phenotypically diverse, modifier genes and environmental factors have an important role in disease expression. The aim of the present study was to identify AC-associated desmosomal gene variations, and examine the expression levels of intercalated disc proteins in AC patients who carry the variations (DSG2 p...
March 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29453327/arrhythmic-risk-stratification-for-arrhythmogenic-right-ventricular-cardiomyopathy-should-we-ask-who-is-at-high-risk-or-who-is-at-low-risk
#2
EDITORIAL
Julia H Indik
No abstract text is available yet for this article.
February 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29453325/performance-of-the-2015-international-task-force-consensus-statement-risk-stratification-algorithm-for-implantable-cardioverter-defibrillator-placement-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#3
Gabriela M Orgeron, Anneline Te Riele, Crystal Tichnell, Weijia Wang, Brittney Murray, Aditya Bhonsale, Daniel P Judge, Ihab R Kamel, Stephan L Zimmerman, Harikrishna Tandri, Hugh Calkins, Cynthia A James
BACKGROUND: Ventricular arrhythmias are a feared complication of arrhythmogenic right ventricular dysplasia/cardiomyopathy. In 2015, an International Task Force Consensus Statement proposed a risk stratification algorithm for implantable cardioverter-defibrillator placement in arrhythmogenic right ventricular dysplasia/cardiomyopathy. METHODS AND RESULTS: To evaluate performance of the algorithm, 365 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients were classified as having a Class I, IIa, IIb, or III indication per the algorithm at baseline...
February 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29431384/cardiomyopathy-an-overview
#4
Jay Brieler, Matthew A Breeden, Jane Tucker
The definition and classification of cardiomyopathy have evolved considerably in recent years. Cardiomyopathy can be separated into primary (genetic, mixed, or acquired) and secondary categories, which result in varied phenotypes including dilated, hypertrophic, and restrictive patterns. Hypertrophic cardiomyopathy is the most common primary cardiomyopathy and can cause exertional dyspnea, presyncope, atypical chest pain, heart failure, and sudden cardiac death. Dilated cardiomyopathy can be genetic or acquired and typically presents with classic symptoms of heart failure with reduced ejection fraction...
November 15, 2017: American Family Physician
https://www.readbyqxmd.com/read/29408436/predicting-arrhythmic-risk-in-arrhythmogenic-right-ventricular-cardiomyopathy-a-systematic-review-and-meta-analysis
#5
Laurens P Bosman, Arjan Sammani, Cynthia A James, Julia Cadrin-Tourigny, Hugh Calkins, J Peter van Tintelen, Richard N W Hauer, Folkert W Asselbergs, Anneline S J M Te Riele
While many studies evaluate predictors for ventricular arrhythmias in Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), a systematic review consolidating this evidence is currently lacking. Therefore, we searched MEDLINE and Embase for studies analyzing predictors for ventricular arrhythmias (sustained ventricular tachycardia/fibrillation (VT/VF), appropriate implantable cardioverter-defibrillator therapy, or sudden cardiac death) in definite ARVC patients, borderline ARVC patients, and ARVC-associated mutation carriers...
February 2, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29402414/camkii-mediated-phosphorylation-of-ryr2-plays-a-crucial-role-in-aberrant-ca2-release-as-an-arrhythmogenic-substrate-in-cardiac-troponin-t-related-familial-hypertrophic-cardiomyopathy
#6
Shinichi Okuda, Yoko Sufu-Shimizu, Takayoshi Kato, Masakazu Fukuda, Shigehiko Nishimura, Tetsuro Oda, Shigeki Kobayashi, Takeshi Yamamoto, Sachio Morimoto, Masafumi Yano
AIMS: Cardiac Troponin T (TnT) mutation-linked familial hypertrophic cardiomyopathy (FHC) is known to cause sudden cardiac death at a young age. Here, we investigated the role of the Ca2+ release channel of the cardiac sarcoplasmic reticulum (SR), ryanodine receptor (RyR2), in the pathogenic mechanism of lethal arrhythmia in FHC-related TnT-mutated transgenic mice (TG; TnT-delta160E). METHODS AND RESULTS: In TG cardiomyocytes, the Ca2+ spark frequency (SpF) was much higher than that in non-TG cardiomyocytes...
January 31, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29401235/arrhythmogenic-response-to-isoproterenol-testing-vs-exercise-testing-in-arrhythmogenic-right-ventricular-cardiomyopathy-patients
#7
A Denis, F Sacher, N Derval, R Martin, H S Lim, T Pambrun, G Massoullie, J Duchateau, H Cochet, X Pillois, G Cheniti, A Frontera, M Takigawa, K Vlachos, C Martin, T Kitamura, M Hocini, H Douard, P Jaïs, M Haïssaguerre
Aims: To compare the arrhythmic response to isoproterenol and exercise testing in newly diagnosed arrhythmogenic right ventricular cardiomyopathy (ARVC) patients. Methods and results: We studied isoproterenol [continuous infusion (45 µg/min) for 3 min] and exercise testing (workload increased by 30 W every 3 min) performed in consecutive newly diagnosed ARVC patients. Both tests were evaluated with regard to the incidence of (i) polymorphic premature ventricular contractions (PVCs) and couplet(s) or (ii) sustained or non-sustained ventricular tachycardia (VT) with left bundle branch block [excluding right ventricular outflow tract VT]; and compared to a control group referred for the evaluation of PVCs without structural heart disease...
February 1, 2018: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/29383263/intracardiac-ultrasound-to-detect-aneurysm-in-arrhythmogenic-right-ventricular-dysplasia-cardiomyopathy
#8
Cismaru Gabriel, Mihai Puiu, Radu Rosu, Lucian Muresan, Raluca Rancea, Gabriel Gusetu, Dana Pop, Dumitru Zdrenghea
Arrhythmogenic right ventricular dysplasia/cardiomyopathy is a genetic disorder characterized by fibrofattty replacement of the right ventricular myocardium. In the revised 2010 Task Force Criteria, a major criteria for ARVD/C is the presence of RV aneurysm by 2D echo. Our report demonstrates that intracardiac ultrasound can detect RV aneurysms and also focal absence of trabeculations which brings additional value to the diagnosis of ARVD/C. A 26-year-old male patient suffering from multiple sustained episodes of ventricular tachycardia was implanted with an internal cardiac defibrillator after confirmation of the disease by cardiac magnetic resonance imaging...
January 2018: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/29381985/sudden-cardiac-death-owing-to-arrhythmogenic-right-ventricular-cardiomyopathy-two-case-reports-and-systematic-literature-review
#9
Jiao Mu, Guohui Zhang, Dazhong Xue, Mengrou Xi, Jiarui Qi, Hongmei Dong
BACKGROUND AND OBJECTIVE: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is increasingly recognized in forensic practice with controversial diagnosis. Here we described the epidemiological characteristics and reported the pathogenetic mechanism, diagnostic challenges, and forensic implications of Chinese ARVC autopsy cases. METHODS: Two cases of sudden cardiac death owing to ARVC were reported. Retrospective analysis were performed on such 2 cases and 45 cases of separate ARVC complete autopsy case reports through Chinese literature databases in the last 30 years...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29378019/the-cardiomyopathy-registry-of-the-eurobservational-research-programme-of-the-european-society-of-cardiology-baseline-data-and-contemporary-management-of-adult-patients-with-cardiomyopathies
#10
Philippe Charron, Perry M Elliott, Juan R Gimeno, Alida L P Caforio, Juan Pablo Kaski, Luigi Tavazzi, Michal Tendera, Carole Maupain, Cécile Laroche, Pawel Rubis, Ruxandra Jurcut, Leonardo Calò, Tiina M Heliö, Gianfranco Sinagra, Marija Zdravkovic, Aušra Kavoliuniene, Stephan B Felix, Jacek Grzybowski, Maria-Angela Losi, Folkert W Asselbergs, José Manuel García-Pinilla, Joel Salazar-Mendiguchia, Katarzyna Mizia-Stec, Aldo P Maggioni
Aims: The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry. Methods and results: A total of 3208 patients were enrolled by 69 centres in 18 countries [HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66)]...
January 24, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29375224/safety-and-efficacy-of-epicardial-ablation-of-ventricular-tachyarrhythmias-experience-from-a-tertiary-referral-center-in-taiwan
#11
Chin-Yu Lin, Fa-Po Chung, Yenn-Jiang Lin, Shih-Lin Chang, Li-Wei Lo, Yu-Feng Hu, Jo-Nan Liao, Ta-Chuan Tuan, Tze-Fan Chao, Yao-Ting Chang, Yun-Yu Chen, Abigail Louise D Te, Shinya Yamada, Shih-Ann Chen
Background: Epicardial catheter ablation has been shown to be an effective strategy for treating ventricular arrhythmias (VA). We investigated the efficacy and safety from a tertiary referral center in Taiwan. Methods: From 2010 to 2016, patients undergoing epicardial ablation for VAs were consecutively enrolled. The clinical characteristics, disease entity, electrophysiological studies, and ablation outcome were extracted for further analysis. Results: A total of 80 patients were eligible, including 34 patients for arrhythmogenic right ventricular cardiomyopathy (ARVC), 16 for Brugada syndrome (BrS), 13 for idiopathic VAs, 11 for idiopathic dilated cardiomyopathy (IDCM), 2 for ischemic cardiomyopathy, and 4 for other nonischemic cardiomyopathies (NICM)...
January 2018: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29372871/clinical-features-of-english-bulldogs-with-presumed-arrhythmogenic-right-ventricular-cardiomyopathy-31-cases-2001-2013
#12
Suzanne M Cunningham, Joseph T Sweeney, John MacGregor, Bruce A Barton, John E Rush
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an important cause of sudden death in people and boxer dogs that has recently been described in English bulldogs. The objective of this retrospective study was to describe the clinical characteristics of English bulldogs with presumed ARVC. The medical records were searched for English bulldogs examined between 2001 and 2013 with a clinical diagnosis of ARVC. The average age of the 31 dogs identified was 9.2 ± 1.6 yr (range 7-13 yr). Males were overrepresented by a factor of 2...
January 26, 2018: Journal of the American Animal Hospital Association
https://www.readbyqxmd.com/read/29343412/implementing-genome-driven-personalized-cardiology-in-clinical-practice
#13
REVIEW
Ares Pasipoularides
Genomics designates the coordinated investigation of a large number of genes in the context of a biological process or disease. It may be long before we attain comprehensive understanding of the genomics of common complex cardiovascular diseases (CVDs) such as inherited cardiomyopathies, valvular diseases, primary arrhythmogenic conditions, congenital heart syndromes, hypercholesterolemia and atherosclerotic heart disease, hypertensive syndromes, and heart failure with preserved/reduced ejection fraction. Nonetheless, as genomics is evolving rapidly, it is constructive to survey now pertinent concepts and breakthroughs...
January 16, 2018: Journal of Molecular and Cellular Cardiology
https://www.readbyqxmd.com/read/29319343/obesity-and-sudden-cardiac-death-in-the-young-clinical-and-pathological-insights-from-a-large-national-registry
#14
Gherardo Finocchiaro, Michael Papadakis, Harshil Dhutia, Della Cole, Elijah R Behr, Maite Tome, Sanjay Sharma, Mary N Sheppard
Aims Obesity is an increasing public health problem and a risk factor for cardiovascular diseases. The aim of the study was to determine the main features and aetiologies in a large cohort of sudden cardiac deaths that occurred in obese subjects. Methods Between 1994 and 2014, 3684 consecutive cases of unexpected sudden cardiac death were referred to our cardiac pathology centre. This study was confined to young individuals (age ≤ 35 years) for whom information about body mass index was available and consisted of 1033 cases...
January 1, 2018: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/29306897/critical-roles-of-xirp-proteins-in-cardiac-conduction-and-their-rare-variants-identified-in-sudden-unexplained-nocturnal-death-syndrome-and-brugada-syndrome-in-chinese-han-population
#15
Lei Huang, Kuo-Ho Wu, Liyong Zhang, Qinchuan Wang, Shuangbo Tang, Qiuping Wu, Pei-Hsiu Jiang, Jim Jung-Ching Lin, Jian Guo, Lin Wang, Shih-Hurng Loh, Jianding Cheng
BACKGROUND: Sudden unexplained nocturnal death syndrome (SUNDS) remains an autopsy negative entity with unclear etiology. Arrhythmia has been implicated in SUNDS. Mutations/deficiencies in intercalated disc components have been shown to cause arrhythmias. Human cardiomyopathy-associated 1 (XIRP1) and 3 (XIRP2) are intercalated disc-associated, Xin repeats-containing proteins. Mouse Xirp1 is necessary for the integrity of intercalated disc and for the surface expression of transient outward and delayed rectifier K+ channels, whereas mouse Xirp2 is required for Xirp1 intercalated disc localization...
January 6, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29288195/sequencing-of-linkage-region-on-chromosome-12p11-identifies-pkp2-as-a-candidate-gene-for-left-ventricular-mass-in-dominican-families
#16
Nicole D Dueker, Shengru Guo, Ashley Beecham, Liyong Wang, Susan H Blanton, Marco R Di Tullio, Tatjana Rundek, Ralph L Sacco
Increased left ventricular mass (LVM) is an intermediate phenotype for cardiovascular disease (CVD) and a predictor of stroke. Using families from the Dominican Republic, we have previously shown LVM to be heritable and found evidence for linkage to chromosome 12p11. Our current study aimed to further characterize the QTL by sequencing the 1 LOD unit down region in ten families from the Dominican Republic with evidence for linkage to LVM. Within this region, we tested 5,477 common variants (CVs; minor allele frequency [MAF] ≥5%) using the QTDT test...
December 29, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/29284304/altered-long-non-coding-rna-transcriptomic-profiles-in-ischemic-stroke
#17
Wenzhen He, Duncan Wei, De Cai, Siqia Chen, Shunxian Li, Wenjie Chen
BACKGROUND: Our previous study described the important regulatory roles of microRNAs (miRNAs) in ischemic stroke. However, the functional significance of long non coding RNA (lncRNAs) in ischemic stroke was largely unknown. This study was aimed to identify the lncRNA profiling and elucidate the regulatory mechanisms in pathophysiology of stroke. MATERIALS AND METHODS: Herein, we used RNA sequencing to sequence the RNA from blood of three ischemic stroke patients and three normal controls...
December 28, 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/29247119/applying-high-resolution-variant-classification-to-cardiac-arrhythmogenic-gene-testing-in-a-demographically-diverse-cohort-of-sudden-unexplained-deaths
#18
Ying Lin, Nori Williams, Dawei Wang, William Coetzee, Bo Zhou, Lucy S Eng, Sung Yon Um, Ruijun Bao, Orrin Devinsky, Thomas V McDonald, Barbara A Sampson, Yingying Tang
BACKGROUND: Genetic variant interpretation contributes to testing yield differences reported for sudden unexplained death. Adapting a high-resolution variant interpretation framework, which considers disease prevalence, reduced penetrance, genetic heterogeneity, and allelic contribution to determine the maximum tolerated allele count in gnomAD, we report an evaluation of cardiac channelopathy and cardiomyopathy genes in a large, demographically diverse sudden unexplained death cohort that underwent thorough investigation in the United States' largest medical examiner's office...
December 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/29245138/cardiac-sarcoidosis-presenting-as-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-with-ventricular-aneurysms-a-case-report
#19
Marija Petrovic, L Maximilian Buja, Biswajit Kar, Jure Colnaric, Sarita Damaraju, Bihong Zhao, Bindu Akkanti, Milan Radovanovic, Rajko Radovancevic, Pranav Loyalka, Igor D Gregoric
A 70-year old Caucasian man with recurrent ventricular tachycardia and progressive biventricular failure attributed to arrhythmogenic right ventricular cardiomyopathy/dysplasia was evaluated for heart transplantation. Cardiac ventriculography revealed an abnormal left ventricle with five saccular aneurysms. Heart transplantation was performed. Pathology of the explanted heart showed multifocal sarcoid granulomas. Replacement fibrosis was widespread in both ventricles and associated with saccular aneurysms. No genetic basis was identified...
November 10, 2017: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29225258/isolated-cardiac-sarcoidosis-mimicking-arrhythmogenic-right-ventricular-cardiomyopathy
#20
Hirotaka Waki, Kazuo Eguchi, Shinichi Toriumi, Tomokazu Ikemoto, Tsukasa Suzuki, Noriyoshi Fukushima, Kazuomi Kario
The diagnosis of cardiac sarcoidosis (CS) has become easier due to advances in imaging modalities, but we sometimes encounter difficult-to-diagnose patients. We herein report the case of a 60-year-old Japanese woman who was diagnosed with isolated CS, although she also met the diagnostic criteria of arrhythmogenic right ventricular cardiomyopathy (ARVC). A histological examination by an endomyocardial biopsy of the right ventricle revealed the typical findings of granulomatous change for CS. Although she did not show any characteristics of systemic sarcoidosis, oral prednisolone treatment was introduced, and she achieved a good response...
December 8, 2017: Internal Medicine
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