Arrhythmogenic right ventricular cardiomyopathy.
Roopali Soni,Yvette Oade +1 more
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TLDR
Paediatricians need to be aware of the possibility of ARVC in adolescents and young adults presenting with palpitations, fatigue, syncope or cardiac arrest, and the authors present two cases of apparently healthy teenage boys who died suddenly and unexpectedly.Abstract:
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare inherited disease of the heart muscle that causes ventricular tachyarrhythmias and sudden death in young people and athletes. It results in fibrofatty replacement of the right ventricle, and the subepicardial region of the left ventricle. It is the most common cause of sudden cardiac death in young people after hypertrophic heart disease. Diagnosis can be difficult and at present there is no cure for ARVC. Prevention of sudden death is the most important management strategy. Paediatricians need to be aware of the possibility of ARVC in adolescents and young adults presenting with palpitations, fatigue, syncope or cardiac arrest. The authors present two cases of apparently healthy teenage boys who died suddenly and unexpectedly. Postmortem examination of the myocardium was strongly suggestive of ARVC in both cases.read more
Citations
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Journal ArticleDOI
Heart Disease and Stroke Statistics—2016 Update: A Report From the American Heart Association
Dariush Mozaffarian,Emelia J. Benjamin,Alan S. Go,Donna K. Arnett,Michael J. Blaha,Mary Cushman,Sandeep R Das,Sarah D. de Ferranti,Jean-Pierre Després,Heather J. Fullerton,Virginia J. Howard,Mark D. Huffman,Carmen R. Isasi,Monik C. Jiménez,Suzanne E. Judd,Brett M. Kissela,Judith H. Lichtman,Lynda D. Lisabeth,Simin Liu,Rachel H. Mackey,David J. Magid,Darren K. McGuire,Emile R. Mohler,Claudia S. Moy,Paul Muntner,Michael E. Mussolino,Khurram Nasir,Robert W. Neumar,Graham Nichol,Latha Palaniappan,Dilip K. Pandey,Mathew J. Reeves,Carlos J. Rodriguez,Wayne D. Rosamond,Paul D. Sorlie,Joel M. Stein,Amytis Towfighi,Tanya N. Turan,Salim S. Virani,Daniel Woo,Robert W. Yeh,Melanie B. Turner +41 more
TL;DR: Author(s): Writing Group Members; Mozaffarian, Dariush; Benjamin, Emelia J; Go, Alan S; Arnett, Donna K; Blaha, Michael J; Cushman, Mary; Das, Sandeep R; de Ferranti, Sarah; Despres, Jean-Pierre; Fullerton, Heather J; Howard, Virginia J; Huffman, Mark D; Isasi, Carmen R; Jimenez, Monik C; Judd, Suzanne
Journal ArticleDOI
Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Proposed Modification of the Task Force Criteria
Frank I. Marcus,William J. McKenna,Duane L. Sherrill,Cristina Basso,Barbara Bauce,David A. Bluemke,Hugh Calkins,Domenico Corrado,Moniek G.P.J. Cox,James P. Daubert,Guy Fontaine,Kathleen Gear,Richard N.W. Hauer,Andrea Nava,Michael H. Picard,Nikos Protonotarios,Jeffrey E. Saffitz,Danita M. Yoerger Sanborn,Jonathan S. Steinberg,Harikrishna Tandri,Gaetano Thiene,Jeffrey A. Towbin,Adalena Tsatsopoulou,Thomas Wichter,Wojciech Zareba +24 more
TL;DR: Modifications of the Task Force Criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia represent a working framework to improve the diagnosis and management of this condition.
Journal ArticleDOI
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia
Frank I. Marcus,William J. McKenna,Duane L. Sherrill,Cristina Basso,Barbara Bauce,David A. Bluemke,Hugh Calkins,Domenico Corrado,Moniek G.P.J. Cox,James P. Daubert,Guy Fontaine,Kathleen Gear,Richard N.W. Hauer,Andrea Nava,Michael H. Picard,Nikos Protonotarios,Jeffrey E. Saffitz,Danita M. Yoerger Sanborn,Jonathan S. Steinberg,Harikrishna Tandri,Gaetano Thiene,Jeffrey A. Towbin,Adalena Tsatsopoulou,Thomas Wichter,Wojciech Zareba +24 more
TL;DR: The criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia have been modified to incorporate new knowledge and technology to improve diagnostic sensitivity, but with the important requisite of maintaining diagnostic specificity.
Journal ArticleDOI
Exercise increases age-related penetrance and arrhythmic risk in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers
Cynthia A. James,Aditya Bhonsale,Crystal Tichnell,Brittney Murray,Stuart D. Russell,Harikrishna Tandri,Ryan J. Tedford,Daniel P. Judge,Hugh Calkins +8 more
TL;DR: Endurance exercise and frequent exercise increase the risk of VT/VF, HF, and ARVD/C in desmosomal mutation carriers and support exercise restriction for these patients.
Journal ArticleDOI
Current Diagnostic and Treatment Strategies for Specific Dilated Cardiomyopathies: A Scientific Statement From the American Heart Association.
Biykem Bozkurt,Monica Colvin,Jennifer L. Cook,Leslie T. Cooper,Anita Deswal,Gregg C. Fonarow,Gary S. Francis,Daniel J. Lenihan,Eldrin F. Lewis,Dennis M. McNamara,Elfriede Pahl,Ramachandran S. Vasan,Kumudha Ramasubbu,Kismet Rasmusson,Jeffrey A. Towbin,Clyde W. Yancy +15 more
TL;DR: The intent of this American Heart Association (AHA) scientific statement is to summarize the current understanding of dilated cardiomyopathies, with special emphasis on recent developments in diagnostic approaches and therapies for specific cardiologyopathies.
References
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Journal ArticleDOI
Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia
Frank I. Marcus,William J. McKenna,Duane L. Sherrill,Cristina Basso,Barbara Bauce,David A. Bluemke,Hugh Calkins,Domenico Corrado,Moniek G.P.J. Cox,James P. Daubert,Guy Fontaine,Kathleen Gear,Richard N.W. Hauer,Andrea Nava,Michael H. Picard,Nikos Protonotarios,Jeffrey E. Saffitz,Danita M. Yoerger Sanborn,Jonathan S. Steinberg,Harikrishna Tandri,Gaetano Thiene,Jeffrey A. Towbin,Adalena Tsatsopoulou,Thomas Wichter,Wojciech Zareba +24 more
TL;DR: The criteria for the clinical diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia have been modified to incorporate new knowledge and technology to improve diagnostic sensitivity, but with the important requisite of maintaining diagnostic specificity.
Journal ArticleDOI
Arrhythmogenic right ventricular cardiomyopathy
TL;DR: Arrhythmogenic right ventricular cardiomyopathy is a rare inherited heartmuscle disease that is a cause of sudden death in young people and athletes as mentioned in this paper. Causative mutations in genes encoding desmosomal proteins have been identified and the disease is nowadays regarded as a genetically determined myocardial dystrophy.
Journal ArticleDOI
Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: Evidence supporting the concept of arrhythmogenic cardiomyopathy
Paul A. van der Zwaag,Ingrid A.W. van Rijsingen,Angeliki Asimaki,Jan D. H. Jongbloed,Dirk J. van Veldhuisen,Ans C.P. Wiesfeld,Moniek G.P.J. Cox,Laura T. van Lochem,Rudolf A. de Boer,Robert M.W. Hofstra,Imke Christiaans,Karin Y. van Spaendonck-Zwarts,Ronald H. Lekanne Deprez,Daniel P. Judge,Hugh Calkins,Albert J. H. Suurmeijer,Richard N.W. Hauer,Jeffrey E. Saffitz,Arthur A.M. Wilde,Maarten P. van den Berg,J. Peter van Tintelen +20 more
TL;DR: To investigate whether phospholamban gene (PLN) mutations underlie patients diagnosed with either arrhythmogenic right ventricular cardiomyopathy (ARVC) or idiopathic dilated heart disease (DCM) patients, a large number of patients with these conditions have had atypical EMTs.
Journal ArticleDOI
Genetic Variation in Titin in Arrhythmogenic Right Ventricular Cardiomyopathy–Overlap Syndromes
Matthew R.G. Taylor,Sharon L. Graw,Gianfranco Sinagra,Carl Barnes,Dobromir Slavov,Francesca Brun,Bruno Pinamonti,Ernesto E. Salcedo,William H. Sauer,Stylianos A. Pyxaras,Brian P. Anderson,Bernd Simon,Julius Bogomolovas,Siegfried Labeit,Henk Granzier,Luisa Mestroni +15 more
TL;DR: In this article, the authors evaluated the cardiomyopathy gene titin (TTN) as a candidate ARVC gene because of its proximity to an ARVC locus at position 2q32 and the connection of the titin protein to the transitional junction at intercalated disks.
Journal ArticleDOI
Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy
Giovanni Quarta,Petros Syrris,Michael Ashworth,Sharon Jenkins,Krisztina Zuborne Alapi,John M. Morgan,Alison Muir,Antonios Pantazis,William J. McKenna,Perry M. Elliott,Perry M. Elliott +10 more
TL;DR: Lamin A/C gene should be added to desmosomal genes when genetically testing patients with suspected ARVC, particularly when they also have ECG evidence for conduction disease.