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https://www.readbyqxmd.com/read/28471438/electronic-health-record-phenotype-in-subjects-with-genetic-variants-associated-with-arrhythmogenic-right-ventricular-cardiomyopathy-a-study-of-30-716-subjects-with-exome-sequencing
#1
Christopher M Haggerty, Cynthia A James, Hugh Calkins, Crystal Tichnell, Joseph B Leader, Dustin N Hartzel, Christopher D Nevius, Sarah A Pendergrass, Thomas N Person, Marci Schwartz, Marylyn D Ritchie, David J Carey, David H Ledbetter, Marc S Williams, Frederick E Dewey, Alexander Lopez, John Penn, John D Overton, Jeffrey G Reid, Matthew Lebo, Heather Mason-Suares, Christina Austin-Tse, Heidi L Rehm, Brian P Delisle, Daniel J Makowski, Vishal C Mehra, Michael F Murray, Brandon K Fornwalt
PurposeArrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart disease. Clinical follow-up of incidental findings in ARVC-associated genes is recommended. We aimed to determine the prevalence of disease thus ascertained.MethodsIndividuals (n = 30,716) underwent exome sequencing. Variants in PKP2, DSG2, DSC2, DSP, JUP, TMEM43, or TGFβ3 that were database-listed as pathogenic or likely pathogenic were identified and evidence-reviewed. For subjects with putative loss-of-function (pLOF) variants or variants of uncertain significance (VUS), electronic health records (EHR) were reviewed for ARVC diagnosis, diagnostic criteria, and International Classification of Diseases (ICD-9) codes...
May 4, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28465114/heart-failure-in-patients-with-arrhythmogenic-right-ventricular-cardiomyopathy-what-are-the-risk-factors
#2
Yoshitaka Kimura, Takashi Noda, Taka-Aki Matsuyama, Yosuke Otsuka, Tsukasa Kamakura, Mitsuru Wada, Kohei Ishibashi, Yuko Inoue, Koji Miyamoto, Hideo Okamura, Satoshi Nagase, Takeshi Aiba, Shiro Kamakura, Teruo Noguchi, Toshihisa Anzai, Kazuhiro Satomi, Yuko Wada, Seiko Ohno, Minoru Horie, Wataru Shimizu, Satoshi Yasuda, Hiroaki Shimokawa, Kengo Kusano
BACKGROUND: We previously demonstrated that heart failure (HF) was one of the major causes of death in arrhythmogenic right ventricular cardiomyopathy (ARVC). The purpose of this study was to elucidate the clinical impact and risk factors of HF in patients with ARVC. METHODS AND RESULTS: We evaluated cardiac adverse outcomes including HF in 113 consecutive patients with ARVC (85 men, mean age: 44±15years). During a median follow-up of 10.0years (interquartile range: 5...
April 21, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28454914/genetic-and-epigenetic-regulation-of-arrhythmogenic-cardiomyopathy
#3
REVIEW
Stefan Mazurek, Gene H Kim
Arrhythmogenic cardiomyopathy (AC) is most commonly characterized as a disease of the intercalated disc that promotes abnormal cardiac conduction. Previously, arrhythmogenic cardiomyopathy was frequently referred to as arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D); however, genotype-phenotype studies have defined a broader phenotypic spectrum; with the identification of left-dominant and biventricular subtypes. Molecular insight into AC has primarily focused on mutations in desmosomal proteins and the downstream signaling pathways; however, desmosomal gene mutations can only be identified in approximately fifty percent of patients with AC...
April 25, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28431057/quantitative-analysis-of-pkp2-and-neighbouring-genes-in-a-patient-with-arrhythmogenic-right-ventricular-cardiomyopathy-caused-by-heterozygous-pkp2-deletion
#4
Keiko Sonoda, Seiko Ohno, Sou Otuki, Koichi Kato, Nobue Yagihara, Hiroshi Watanabe, Takeru Makiyama, Tohru Minamino, Minoru Horie
Aims: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disease mainly caused by desmosome gene mutations. The genetic culprit, however, remains elusive in ∼50% of ARVC patients. One of the reasons for missing genetic abnormalities is the difficulty in detecting large deletions/duplications, which are called as copy number variation (CNV) by the Sanger sequencing method. This study aimed to identify CNVs in PKP2 and a part of other desmosome genes in ARVC patients. Methods and Results: The study cohort consisted of 71 ARVC probands who were diagnosed as definite or borderline cases based on 2010 Task Force Criteria...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28431055/electrocardiographic-differentiation-of-idiopathic-right-ventricular-outflow-tract-ectopy-from-early-arrhythmogenic-right-ventricular-cardiomyopathy
#5
Jan Novak, Alessandro Zorzi, Silvia Castelletti, Antonis Pantasis, Ilaria Rigato, Domenico Corrado, William Mckenna, Pier D Lambiase
Aims: The differentiation between idiopathic right ventricular outflow tract (RVOT) arrhythmias and early arrhythmogenic right ventricular cardiomyopathy (ARVC) can be challenging. We aimed to assess whether QRS morphological features and coupling interval of ventricular ectopic beats (VEBs) can improve differentiation between the two conditions. Methods and Results: Twenty desmosomal-gene mutation carriers (13 females, mean age 43 years) with no or mild ARVC phenotypic expression and 33 age- and sex-matched subjects with idiopathic RVOT arrhythmias were studied...
April 1, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28373789/arrhythmogenic-right-ventricular-cardiomyopathy-with-biventricular-involvement-and-heart-failure-in-a-9-year-old-girl
#6
Fateh Ali Tipoo Sultan, Mehnaz Atiq Ahmed, Jamie Miller, Joseph B Selvanayagam
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is seldom recognized clinically in infancy or under the age of 10. We report a case of a 9-year-old girl with ARVC, who presented with signs and symptoms of heart failure and palpitations. Holter monitoring showed frequent premature ventricular beats and echocardiogram revealed dilated and dysfunctional right ventricle with normal tricuspid valve and no evidence of intracardiac shunt. Cardiac magnetic resonance showed classical features of ARVC with both ventricular involvements...
April 2017: Journal of the Saudi Heart Association
https://www.readbyqxmd.com/read/28371837/characterization-of-the-arrhythmogenic-substrate-in-patients-with-arrhythmogenic-right-ventricular-cardiomyopathy-undergoing-ventricular-tachycardia-ablation
#7
Senthil Kirubakaran, Caterina Bisceglia, John Silberbauer, Teresa Oloriz, Giulia Santagostino, Miki Yamase, Giuseppe Maccabelli, Nicola Trevisi, Paolo Della Bella
Aims: Arrhythmogenic right ventricular (RV) cardiomyopathy (ARVC) is associated with ventricular arrhythmias, even without RV structural disease. We aimed to characterize the RV substrate using electroanatomical mapping and to define outcomes following ventricular tachycardia (VT) ablation in patients with and without RV structural abnormalities. Methods and results: Twenty-nine patients with definite or suspected ARVC undergoing VT ablation were classified as 'electrical' and 'structural' cardiomyopathy based on the absence or presence of major structural criteria...
March 20, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
https://www.readbyqxmd.com/read/28342631/systematic-review-impact-of-the-new-task-force-criteria-in-the-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy
#8
Giuseppe Femia, Raymond W Sy, Rajesh Puranik
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disorder of cardiac desmosomes associated with ventricular arrhythmias and sudden cardiac death. The clinical diagnosis is problematic and relies on a complex criteria composed of clinical and non-clinical parameters. In 2010, the original 1994 Task Force Criteria (TFC) was revised with particular attention given to the imaging parameters. METHODS: Five retrospective studies compared the diagnostic concordance between the 1994 and 2010 TFC...
March 19, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28336907/new-task-force-criteria-provide-evolution-in-diagnosis-of-arrhythmogenic-cardiomyopathy-in-patients-without-typical-progression-of-the-disease
#9
Mariana S Parahuleva, Jens Figiel, Holger Ahrens, Bernhard Schieffer, Dimitar Divchev, Ulrich Lüsebrink
BACKGROUND The original Task Force Criteria from 1994 for the clinical diagnosis of ARVC were highly specific and based on structural, histological, EKG, and familial features of disease. However, recommendations for clinical diagnosis and management of ARVC are sparse and lacked sensitivity for early disease. CASE REPORT Ventricular electrical instability and sudden cardiac death are the hallmarks of ARVC, and are often present before structural abnormalities. In this case report, we describe a patient who had detectable electrical abnormalities and structural changes that remained unchanged for over 10 years...
March 24, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28329361/sex-hormones-affect-outcome-in-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-from-a-stem-cell-derived-cardiomyocyte-based-model-to-clinical-biomarkers-of-disease-outcome
#10
Deniz Akdis, Ardan M Saguner, Khooshbu Shah, Chuanyu Wei, Argelia Medeiros-Domingo, Arnold von Eckardstein, Thomas F Lüscher, Corinna Brunckhorst, H S Vincent Chen, Firat Duru
Aims: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is characterized by fibrofatty infiltration of the myocardium and ventricular arrhythmias that may lead to sudden cardiac death. It has been observed that male patients develop the disease earlier and present with more severe phenotypes as compared to females. Thus, we hypothesized that serum levels of sex hormones may contribute to major arrhythmic cardiovascular events (MACE) in patients with ARVC/D. Methods and results: The serum levels of five sex hormones, sex hormone-binding globulin, high sensitivity troponin T, pro-brain natriuretic peptide, cholesterol, triglycerides, insulin, and glucose were measured in 54 ARVC/D patients (72% male)...
May 14, 2017: European Heart Journal
https://www.readbyqxmd.com/read/28315121/untangling-the-biology-of-genetic-cardiomyopathies-with-pluripotent-stem-cell-disease-models
#11
REVIEW
Jan W Buikema, Sean M Wu
PURPOSE OF REVIEW: Recently, the discovery of strategies to reprogram somatic cells into induced pluripotent stem (iPS) cells has led to a major paradigm change in developmental and stem cell biology. The application of iPS cells and their cardiac progeny has opened novel directions to study cardiomyopathies at a cellular and molecular level. This review discusses approaches currently undertaken to unravel known inherited cardiomyopathies in a dish. RECENT FINDINGS: With improved efficiency for mutation correction by genome editing, human iPS cells have now provided a platform to untangle the biology of cardiomyopathies...
April 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28288337/remodelling-of-myocardial-intercalated-disc-protein-connexin-43-causes-increased-susceptibility-to-malignant-arrhythmias-in-arvc-d-patients
#12
Xiao Chen, Liang Chen, Zhenglian Chen, Xinshan Chen, Jiangping Song
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a primary cardiomyopathy characterised by fibrofatty replacement and ventricular arrhythmias. The occurrence of malignant arrhythmias may be associated with fatty infiltration and intercalated disk remodelling, but the specific pathological remodelling pattern is not yet clear. METHODS: Twelve explanted hearts from patients diagnosed with ARVC/D according to the 2010 Task Force Criteria and pathology examination were divided into two groups with (SVT, n=6) or without (non-SVT, n=6) recurrent sustained ventricular tachycardia (SVT) before heart transplantation...
February 27, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28286759/bioinformatics-analysis-reveals-micrornas-regulating-biological-pathways-in-exercise-induced-cardiac-physiological-hypertrophy
#13
REVIEW
Jiahong Xu, Yang Liu, Yuan Xie, Cuimei Zhao, Hongbao Wang
Exercise-induced physiological cardiac hypertrophy is generally considered to be a type of adaptive change after exercise training and is beneficial for cardiovascular diseases. This study aims at investigating exercise-regulated microRNAs (miRNAs) and their potential biological pathways. Here, we collected 23 miRNAs from 8 published studies. MirPath v.3 from the DIANA tools website was used to execute the analysis, and TargetScan was used to predict the target genes. Kyoto Encyclopedia of Genes and Genomes (KEGG) and Gene Ontology (GO) analyses were performed to identify potential pathways and functional annotations associated with exercise-induced physiological cardiac hypertrophy...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28283360/phenotypic-expression-of-arvc-how-12-lead-ecg-can-predict-left-or-right-ventricle-involvement-a-familiar-case-series-and-a-review-of-literature
#14
Luca Gaido, Alberto Battaglia, Mario Matta, Carla Giustetto, Simone Frea, Massimo Imazio, Elena Richiardi, Lucia Garberoglio, Fiorenzo Gaita
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited heart-muscle disease primarily affecting the right ventricle (RV) and potentially causing sudden death in young people. The natural history of the disease is firstly characterized by a concealed form progressing over a biventricular involvement. Three different cases coming from the same family are presented together with a review of the literature. METHODS AND RESULTS: Multi-parameter analysis including imaging and electrocardiographic analysis is presented since the first medical referral with follow-up ranging from 11 to 38years...
June 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28280076/identification-of-cadherin-2-cdh2-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy
#15
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/28266935/genetic-causes-of-sudden-cardiac-death-in-the-young
#16
Andrea Mazzanti, Riccardo Maragna, Silvia G Priori
PURPOSE OF REVIEW: In this article, we discuss the most recent and relevant studies published in the field of inherited arrhythmogenic disorders, focusing in particular on channelopathies (Long QT syndrome, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia) and arrhythmogenic right ventricular cardiomyopathy (ARVC). RECENT FINDINGS: We discuss the updated diagnostic criteria for channelopathies released by the European Society of Cardiology, the new results on the value of programmed electrical stimulation in patients with Brugada syndrome, and the recent evidences supporting a genotype-specific therapy for Long QT syndrome type 3...
March 6, 2017: Current Opinion in Cardiology
https://www.readbyqxmd.com/read/28261825/electrical-storm-in-icd-recipients-with-arrhythmogenic-right-ventricular-cardiomyopathy
#17
Kang Yin, Ligang Ding, Wei Hua, Shu Zhang
BACKGROUND: Implantable cardioverter defibrillator (ICD) is the most important management for prevention of sudden cardiac death (SCD) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). However, some patients may receive multiple ICD therapies in a short period, a condition referred as "electrical storm". OBJECTIVES: This study aimed to determine the prevalence, therapeutic options, and prognostic implications of ES in ARVC patients with an ICD...
March 6, 2017: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/28256248/whole-exome-sequencing-identifies-a-novel-mutation-of-desmocollin-2-in-a-chinese-family-with-arrhythmogenic-right-ventricular-cardiomyopathy
#18
Ji-Shi Liu, Liang-Liang Fan, Jing-Jing Li, Rong Xiang
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare heart disorder characterized by myocyte loss and fibro-fatty tissue replacement. With the progress of ARVC, patient can present serious ventricular arrhythmias, heart failure, and even sudden cardiac death. Previous studies have revealed that the generation and development of ARVC are related to structural changes of desmosomes. To date, at least 5 genes associated with desmosomes have been identified in patients with ARVC, including Desmoplakin, Plakophilin 2, Desmoglein 2, Desmocollin 2, and Junction plakoglobin...
May 1, 2017: American Journal of Cardiology
https://www.readbyqxmd.com/read/28253841/identification-of-established-arrhythmogenic-right-ventricular-cardiomyopathy-mutation-in-a-patient-with-the-contrasting-phenotype-of-hypertrophic-cardiomyopathy
#19
Matthew Neil Bainbridge, Lili Li, Yanli Tan, Benjamin Y Cheong, Ali J Marian
BACKGROUND: Advances in the nucleic acid sequencing technologies have ushered in the era of genetic-based "precision medicine". Applications of the genetic discoveries to practice of medicine, however, are hindered by phenotypic variability of the genetic variants. The report illustrates extreme pleiotropic phenotypes associated with an established causal mutation for hereditary cardiomyopathy. CASE PRESENTATION: We report a 61-year old white female who presented with syncope and echocardiographic and cardiac magnetic resonance (CMR) imaging findings consistent with the diagnosis of hypertrophic cardiomyopathy (HCM)...
March 3, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28215569/cardiac-phenotype-and-long-term-prognosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-patients-with-late-presentation
#20
Aditya Bhonsale, Anneline S J M Te Riele, Abhishek C Sawant, Judith A Groeneweg, Cynthia A James, Brittney Murray, Crystal Tichnell, Thomas P Mast, Michelle J van der Pols, Maarten J M Cramer, Dennis Dooijes, Jeroen F van der Heijden, Harikrishna Tandri, J Peter van Tintelen, Daniel P Judge, Richard N W Hauer, Hugh Calkins
BACKGROUND: The clinical profile of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) patients with late presentation is unknown. OBJECTIVE: The purpose of this study was to characterize the genotype, cardiac phenotype, and long-term outcomes of ARVC/D patients with late presentation (age ≥50 years at diagnosis). METHODS: Five hundred two patients with an ARVC/D diagnosis from Johns Hopkins and Utrecht Registries were studied and long-term clinical outcomes ascertained...
February 12, 2017: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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