Arrhythmogenic right ventricular cardiomyopathy: clinical registry and database, evaluation of therapies, pathology registry, DNA banking
| Autor: | Fabio d’Alessi, Loizos Antoniades, Elżbieta Czarnowska, Nikos Protonotarios, Domenico Corrado, Cristina Basso, Andrea Nava, Thomas Wichter, William J. McKenna, Katharzyna Wlodarska, Gaetano Thiene, Guy Fontaine, Gian Antonio Danieli |
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| Rok vydání: | 2004 |
| Předmět: |
Pathology
medicine.medical_specialty Heart disease MEDLINE Disease computer.software_genre Sudden death Right ventricular cardiomyopathy Naxos disease Quality of life Research Support as Topic Humans Medicine Ethics Medical Registries Arrhythmogenic Right Ventricular Dysplasia Database business.industry DNA medicine.disease Arrhythmogenic right ventricular dysplasia Europe Evaluation Studies as Topic Cardiology and Cardiovascular Medicine business computer |
| Zdroj: | European Heart Journal. 25:531-534 |
| ISSN: | 0195-668X |
| DOI: | 10.1016/j.ehj.2003.12.025 |
| Popis: | A multidisciplinary collaborative European study has been designed with the aim to investigate the clinical, pathological and genetic features of arrhythmogenic right ventricular cardiomyopathy (ARVC), which is a progressive, genetically determined disorder of the right ventricular myocardium and a major risk of sudden death particularly in the young.1–3 The disease is reported familial up to 50% with autosomal dominant inheritance while an autosomal recessive form (Naxos disease) associated with cutaneous abnormalities also exists. Nine genetic loci and mutations in three genes have been discovered so far.4–7 Treatment and prevention of ventricular tachyarrhythmias and sudden death include antiarrhythmic drug therapy, catheter ablation and the implantable cardioverter-defibrillator.2,8–11 However, a systematic evaluation of treatment options is not yet available. The need to set up an International Registry for ARVC has been perceived since years and many attempts have been accomplished after the publication of the diagnostic criteria.12–14 The European venture was not costless and a financial support was searched for. The occasion was given by the 5th Framework Programme of the European Community in the field of research and technological development called “Quality of Life and Management of Living Resources”, Action lines 1999/c 64/14 1.1.1.–7.2 “Evaluation of therapies through multinational large scale study/trials” 7.3 “Optimised use of databases, registries, reagents and sample banks”.15 A successful application was submitted by G. Thiene, on behalf of a multinational consortium. The project involves seven European countries: | Italy | Institute of Pathological Anatomy (G. Thiene), Department of Clinical and Experimental Medicine, Cardiology (A. Nava) and Department of Biology, Genetics (G.A. Danieli), University of Padua | || | Germany | Department of Cardiology and Angiology, University Hospital of Munster (T. Wichter) | | France | Institute de Cardiologie, Group Hospitalier Pitie-Salpetriere, Paris (G. Fontaine) | | United Kingdom | The Heart Hospital, University College of London (W. J. McKenna) | | Greece | Yannis Protonotarios Medical Center, Naxos (N. Protonotarios) | | Poland | Department of Pathology, Children's Memorial Health Institute (E. Czarnowska), Department of Noninvasive Cardiology and Congenital Heart Defects, Institute of Cardiology (E.K. Wlodarska) | | Cyprus | Department of Cardiology, Nicosia General Hospital (L. Antoniades) | The project consists … |
| Databáze: | OpenAIRE |
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