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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
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...
February 14, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
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
Shuanglun Xie, Benoit Desjardins, Maciej Kubala, Jackson Liang, Jiandu Yang, Rob J van der Geest, Robert Schaller, Michael Riley, David Callans, Erica Zado Pac, Francis Marchlinski, Saman Nazarian
BACKGROUND: Criteria for identification of anatomic ventricular tachycardia (VT) substrates in arrhythmogenic right ventricular cardiomyopathy (ARVC) on late gadolinium enhancement (LGE) cardiac magnetic resonance (CMR) are unclear. OBJECTIVE: We sought to define a) the association of regional RV epicardial voltage amplitude with the distribution of LGE, and b) appropriate image signal intensity (SI) thresholds for VT substrate identification, in ARVC. METHODS: Pre-procedural LGE-CMR and epicardial electrogram mapping were performed in 10 ARVC patients...
March 1, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
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
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
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)
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
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
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
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
Chalani D Ellepola, Linda M Knight, Peter Fischbach, Shriprasad R Deshpande
Genetic testing is recommended in patients with dilated cardiomyopathy (DCM); however, limited studies demonstrate high yields of genetic testing in non-hypertrophic (HCM) patients. Furthermore, there is sparse genotype-phenotype data in pediatric DCM patients. We performed a retrospective review of 70 consecutive probands with cardiomyopathy (non-HCM) who underwent genetic evaluation. Mean age at presentation was 5.48 years. Echocardiography revealed mean ejection fraction of 32.4%. The LVEDd z score ranged from - 5...
March 2018: Pediatric Cardiology
Suneesh Kalliath, Gopalan Nair Rajesh
A 66-year-old man presented with abdominal distension and pedal oedema for the past 10 years. He had history of right heart failure on several occasions in the past, and one of these admissions prompted referral to a cardiac specialist. On examination, he had markedly elevated jugular venous pressure with prominent 'y-descent', a tricuspid regurgitation murmur, gross ascites and pedal oedema. A full blood count, routine biochemical screen and serum bicarbonate levels were normal. Right ventricular angiogram revealed a 'caterpillar'-like aneurysm of the right ventricle (RV) apex (figure 1 arrow) with a dilated right ventricular outflow tract and significant tricuspid regurgitation with a dilated right atrium (see online supplementary video 1)...
2017: Heart Asia
Gourg Atteya, Rachel Lampert
Sudden cardiac death (SCD) caused by ventricular arrhythmias is common in patients with genetic cardiomyopathies (CMs) including dilated CM, hypertrophic CM, and arrhythmogenic right ventricular CM (ARVC). Phenotypic features can identify individuals at high enough risk to warrant placement of an implantable cardioverter-defibrillator, although risk stratification schemes remain imperfect. Genetic testing is valuable for family cascade screening but with few exceptions (eg, LMNA mutations) do not identify higher risk for SCD...
December 2017: Cardiac Electrophysiology Clinics
Hugh Calkins, Domenico Corrado, Frank Marcus
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy characterized by ventricular arrhythmias and an increased risk of sudden cardiac death. Although structural abnormalities of the right ventricle predominate, it is well recognized that left ventricular involvement is common, particularly in advanced disease, and that left-dominant forms occur. The pathological characteristic of ARVC is myocyte loss with fibrofatty replacement. Since the first detailed clinical description of the disorder in 1982, significant advances have been made in understanding this disease...
November 21, 2017: Circulation
Franziska Nippert, Rolf Schreckenberg, Klaus-Dieter Schlüter
In an intact heart, adjacent cells influence adult cardiomyocytes. With the method of isolation and cultivation of adult cardiomyocytes, a precise investigation of the behavior of these cells under specific treatments and environments is possible. This manuscript presents a protocol for successful isolation and cultivation of adult rat ventricular cardiomyocytes (ARVC). The rat is sacrificed by cervical dislocation under deep anesthesia. Then, the heart is extracted and the aorta is uncovered. Subsequently, perfusion on the Langendorff perfusion system with calcium depletion and collagenase treatment is performed...
October 19, 2017: Journal of Visualized Experiments: JoVE
Thomas Gilljam, Kristina H Haugaa, Henrik K Jensen, Anneli Svensson, Henning Bundgaard, Jim Hansen, Göran Dellgren, Finn Gustafsson, Hans Eiskjær, Arne K Andreassen, Johan Sjögren, Thor Edvardsen, Anders G Holst, Jesper Hastrup Svendsen, Pyotr G Platonov
OBJECTIVE: There is a paucity of data on heart transplantation (HTx) in patients with arrhythmogenic right ventricular cardiomyopathy (ARVC), and specific recommendations on indications for listing ARVC patients for HTx are lacking. In order to delineate features pertinent to HTx assessment, we explored the pre-HTx characteristics and clinical history in a cohort of ARVC patients who received heart transplants. METHODS: Data from 31 ARVC/HTx patients enrolled in the Nordic ARVC Registry, transplanted between 1988 and 2014 at a median age of 46years (14-65), were compared with data from 152 non-transplanted probands with Definite ARVC according to 2010 Task Force Criteria from the same registry...
October 21, 2017: International Journal of Cardiology
Meriam Åström Aneq, Eva Maret, Lars Brudin, Anneli Svensson, Jan Engvall
PURPOSE: To assess right ventricular (RV) regional and global systolic function using feature tracking (FT) in patients with a definite diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC) and to investigate if changes in strain amplitude and mechanical dispersion indicate a propensity for arrhythmia. MATERIALS AND METHODS: Twenty-seven patients fulfilling Task Force Criteria for ARVC and 24 healthy volunteers underwent MR at 1·5 Tesla. Steady-state free precession cine of long-axis slices and a short-axis stack of the RV was acquired...
November 6, 2017: Clinical Physiology and Functional Imaging
Peter Marstrand, Anna Axelsson, Jens Jakob Thune, Niels Vejlstrup, Steen Pehrson, Henning Bundgaard, Juliane Theilade
INTRODUCTION: The presence of late potentials (LP) may indicate a predisposition to ventricular arrhythmias and sudden cardiac death. We investigated the association between presence of LP and structural cardiac anomalies assessed by magnetic resonance (CMR) in patients presenting with ventricular arrhythmias. METHODS: We included 42 patients admitted with ventricular tachycardia or fibrillation who had undergone both signal-averaged ECG recording and CMR imaging...
November 1, 2017: Pacing and Clinical Electrophysiology: PACE
Alexia Hennig, Marjorie Salel, Frederic Sacher, Claudia Camaioni, Soumaya Sridi, Arnaud Denis, Michel Montaudon, François Laurent, Pierre Jais, Hubert Cochet
Aims: Cardiac magnetic resonance (CMR) is recommended as a second-line method to diagnose ventricular arrhythmia (VA) substrate. We assessed the diagnostic yield of CMR including high-resolution late gadolinium-enhanced (LGE) imaging. Methods and results: Consecutive patients with sustained ventricular tachycardia (VT), non-sustained VT (NSVT), or ventricular fibrillation/aborted sudden death (VF/SCD) underwent a non-CMR diagnostic workup according to current guidelines, and CMR including LGE imaging with both a conventional breath-held and a free-breathing method enabling higher spatial resolution (HR-LGE)...
October 23, 2017: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
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