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https://www.readbyqxmd.com/read/29774304/arrhythmogenic-right-ventricular-cardiomyopathy-in-boxer-dogs-the-diagnosis-as-a-link-to-the-human-disease
#1
Annina S Vischer, David J Connolly, Caroline J Coats, Virginia Luis Fuentes, William J McKenna, Silvia Castelletti, Antonios A Pantazis
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a myocardial disease with an increased risk for ventricular arrhythmias. The condition, which occurs in Boxer dogs, shares phenotypic features with the human disease arrhythmogenic cardiomyopathy (ACM) suggesting its potential as a natural animal model. However, there are currently no universally accepted clinical criteria to diagnose ARVC in Boxer dogs. We aimed to identify diagnostic criteria for ARVC in Boxer dogs defining a more uniform and consistent phenotype...
September 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29759533/12-lead-electrocardiogram-to-localize-region-of-abnormal-electroanatomic-substrate-in-arrhythmogenic-right-ventricular-cardiomyopathy
#2
Cory M Tschabrunn, Haris M Haqqani, Pasquale Santangeli, Erica S Zado, Francis E Marchlinski
OBJECTIVES: The purpose of this study was to evaluate the relationship between electrocardiogram (ECG) QRS fragmentation (fQRS) and right ventricular (RV) endocardial (ENDO) and epicardial (EPI) electroanatomic substrate abnormalities in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC). BACKGROUND: fQRS is frequently observed in patients with ARVC and reflects delayed conduction due to RV fibrosis. METHODS: A total of 30 consecutive patients met the task force criteria for ARVC (19 men, mean age 41...
July 2017: JACC. Clinical Electrophysiology
https://www.readbyqxmd.com/read/29754204/diagnosing-arvc-in-pediatric-patients-applying-the-revised-task-force-criteria-importance-of-imaging-12-lead-ecg-and-genetics
#3
Michael Steinmetz, Ulrich Krause, Peter Lauerer, Frank Konietschke, Randolph Aguayo, Christian Oliver Ritter, Andreas Schuster, Joachim Lotz, Thomas Paul, Wieland Staab
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a potentially lethal disease that is well described in adults. In pediatric patients, however, identification of patients at risk of adverse events of ARVC remains a challenge. We aimed to determine which criteria of the revised Task Force Criteria (rTFC), alone or combined, have an impact on diagnosis of ARVC when compared to disease-specific genetic mutations in pediatric patients ≤ 18 years. Between September 2010 and December 2013, 48 consecutive young patients ≤ 18 years of age (mean 14, range of 12...
May 12, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29721109/arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia-arvc-d-in-clinical-practice
#4
REVIEW
Ka Hou Christien Li, George Bazoukis, Tong Liu, Guangping Li, William K K Wu, Sunny Hei Wong, Wing Tak Wong, Yat Sun Chan, Martin C S Wong, Katharina Wassilew, Vassilios S Vassiliou, Gary Tse
Arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is an inherited myocardial disease characterized by fibro-fatty replacement of the right ventricular myocardium, and associated with paroxysmal ventricular arrhythmias and sudden cardiac death (SCD). It is currently the second most common cause of SCD after hypertrophic cardiomyopathy in young people <35 years of age, causing up to 20% of deaths in this patient population. This condition has a male preponderance and is more commonly found in individuals of Italian and Greek descent...
February 2018: Journal of Arrhythmia
https://www.readbyqxmd.com/read/29709087/identification-of-sarcomeric-variants-in-probands-with-a-clinical-diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-arvc
#5
Brittney Murray, Edgar T Hoorntje, Anneline S J M Te Riele, Crystal Tichnell, Jeroen F van der Heijden, Harikrishna Tandri, Maarten P van den Berg, Jan D H Jongbloed, Arthur A M Wilde, Richard N W Hauer, Hugh Calkins, Daniel P Judge, Cynthia A James, J Peter van Tintelen, Dennis Dooijes
AIMS: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and sudden death. Currently 60% of patients meeting Task Force Criteria (TFC) have an identifiable mutation in one of the desmosomal genes. As much overlap is described between other cardiomyopathies and ARVC, we examined the prevalence of rare, possibly pathogenic sarcomere variants in the ARVC population. METHODS: One hundred and thirty-seven (137) individuals meeting 2010 TFC for a diagnosis of ARVC, negative for pathogenic desmosomal variants, TMEM43, SCN5A, and PLN were screened for variants in the sarcomere genes (ACTC1, MYBPC3, MYH7, MYL2, MYL3, TNNC1, TNNI3, TNNT2 and TPM1) through either clinical or research genetic testing...
April 30, 2018: Journal of Cardiovascular Electrophysiology
https://www.readbyqxmd.com/read/29705385/diagnosis-of-arrhythmogenic-right-ventricular-cardiomyopathy-progress-and-pitfalls
#6
REVIEW
Ad W G J Oomen, Christopher Semsarian, Rajesh Puranik, Raymond W Sy
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes. Although early detection and treatment is important, the diagnosis of ARVC remains challenging. There is no single pathognomonic diagnostic finding in ARVC; rather, current international task force criteria specify diagnostic major and minor criteria in six categories: right ventricular imaging (including echocardiography and cardiac magnetic resonance imaging (MRI)), histology, repolarisation abnormalities, depolarisation and conduction abnormalities, arrhythmias and family history (including genetic testing)...
April 4, 2018: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/29678777/a-10-year-review-of-sudden-death-during-sporting-activities
#7
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/29652902/relations-between-right-ventricular-morphology-and-clinical-electrical-and-genetic-parameters-in-brugada-syndrome
#8
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/29628478/arrhythmogenic-right-ventricular-cardiomyopathy-with-multiple-thrombi-and-ventricular-tachycardia-of-atypical-left-branch-bundle-block-morphology
#9
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
#10
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/29606362/usefulness-of-genetic-study-by-next-generation-sequencing-in-high-risk-arrhythmogenic-cardiomyopathy
#11
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/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/29550307/the-prognostic-value-of-right-ventricular-deformation-imaging-in-early-arrhythmogenic-right-ventricular-cardiomyopathy
#15
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/29544927/pregnancy-and-newborn-outcomes-in-arrhythmogenic-right-ventricular-cardiomyopathy-dysplasia
#16
E Gandjbakhch, E Varlet, G Duthoit, V Fressart, P Charron, C Himbert, C Maupain, C Bordet, F Hidden-Lucet, J Nizard
INTRODUCTION: The prognosis of pregnancy in patients with Arrhythmogenic Right Ventricular Cardiomyopathy/dysplasia (ARVC/D) is poorly documented. The aim of this study is to assess the cardiac risks during pregnancy and the impact of ARVC/D on fetuses/neonates/children. METHODS: We included all ARVC/D women with a history of pregnancy from the ARVC/D Pitié-Salpêtrière registry. Cardiac and obstetrical events having occurred during pregnancy/delivery/post-partum periods and neonatal data/follow-up were collected...
May 1, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29531232/genetic-analyses-in-a-bonobo-pan-paniscus-with-arrhythmogenic-right-ventricular-cardiomyopathy
#17
Patrícia B S Celestino-Soper, Ty C Lynnes, Lili Zhang, Karen Ouyang, Samuel Wann, Victoria L Clyde, Matteo Vatta
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder that may lead to sudden death and can affect humans and other primates. In 2012, the alpha male bonobo of the Milwaukee County Zoo died suddenly and histologic evaluation found features of ARVC. This study sought to discover a possible genetic cause for ARVC in this individual. We sequenced our subject's DNA to search for deleterious variants in genes involved in cardiovascular disorders. Variants found were annotated according to the human genome, following currently available classification used for human diseases...
March 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29525727/endomyocardial-biopsy-in-differential-diagnosis-between-arrhythmogenic-right-ventricular-cardiomyopathy-and-dilated-cardiomyopathy-an-in-vitro-simulated-study
#18
Mangyuan Wang, Kai Chen, Xiao Chen, Liang Chen, Jiangping Song, ShengShou Hu
Arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM), despite being two dramatically different entities, have overlapping phenotypes. As it is easy to misdiagnose between ARVC and DCM, there is a need to establish a new differential diagnostic parameter to differentiate the two. We investigated the utility of endomyocardial biopsy (EMB) for the differential diagnosis, and our study had three aims. The first was to verify the EMB high diagnostic efficacy. The second was to investigate the EMB perforation risk at the right ventricle (RV) free wall of end-stage ARVC...
May 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29506736/common-presentation-of-rare-diseases-arrhythmogenic-right-ventricular-cardiomyopathy-and-its-mimics
#19
Adalena Tsatsopoulou, Eduardo Bossone
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is the most common phenotype described within the spectrum of arrhythmogenic cardiomyopathies. It usually presents in early adolescence with severe ventricular arrhythmias along with cardiac structural and functional alterations mainly of the right ventricular myocardium. Though the estimated prevalence of ARVC in the general population is only 1:5000, it represents one of the most common causes of juvenile sudden death. However, detection of early RV dysfunction in ARVC may be challenging requiring high clinical suspicion and an algorithmic approach...
April 15, 2018: International Journal of Cardiology
https://www.readbyqxmd.com/read/29501666/association-of-regional-epicardial-right-ventricular-electrogram-voltage-amplitude-and-late-gadolinium-enhancement-distribution-on-cardiac-magnetic-resonance-in-patients-with-arrhythmogenic-right-ventricular-cardiomyopathy-implications-for-ventricular-tachycardia
#20
Shuanglun Xie, Benoit Desjardins, Maciej Kubala, Jackson Liang, Jiandu Yang, Rob J van der Geest, Robert Schaller, Michael Riley, David Callans, Erica Zado, Francis Marchlinski, Saman Nazarian
BACKGROUND: Criteria for identification of anatomic ventricular tachycardia substrates in arrhythmogenic right ventricular cardiomyopathy (ARVC) on late gadolinium enhancement (LGE) cardiac magnetic resonance (CMR) are unclear. OBJECTIVE: The purpose of this study was to define (1) the association of regional right ventricular (RV) epicardial voltage amplitude with the distribution of LGE; and (2) appropriate image signal intensity (SI) thresholds for ventricular tachycardia substrate identification in ARVC...
March 2, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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