Περίληψη:
Aims: Cardiomyopathies are a heterogeneous group of disorders associated with premature death due to ventricular arrhythmia or heart failure. The purpose of this study was to examine the characteristics of patients enrolled in the pilot phase of the EURObservational Research Programme (EORP) cardiomyopathy registry. Methods and results: Between 1 December 2012 and 30 November 2013, four cardiomyopathy phenotypes were studied: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). Twenty-seven centres in 12 countries participated; 1115 patients were enrolled. The commonest cardiomyopathy was HCM (n = 681), followed by DCM (n = 346), ARVC (n = 59), and RCM (n = 29); 423 patients (46.4% of those reported) had familial disease; and 56 (5.0%) had rare disease phenocopies. Median age at enrolment and diagnosis was 54 [interquartile range (IQR), 42-64] and 46 years (IQR, 32-58), respectively; fewer patients with ARVC and more with RCM were diagnosed in the upper age quartile (P, 0.0001). There was a male predominance for all cardiomyopathies except RCM (P = 0.0023). Most patients were in New York Heart Association functional class I (n = 813) at enrolment; 139 (12.5%) reported syncope, most frequently in ARVC (P = 0.0009). Five hundred and seven (45.5%) patients underwent cardiac magnetic resonance imaging, 117 (10.6%) endomyocardial biopsy, and 462 (41.4%) genetic testing with a causative mutation reported in 236 individuals (51.1%). 1026 patients (92.0%) were receiving drug therapy; 316 (28.3%) had received an implantable cardioverter defibrillator (highest proportion in ARVC, P, 0.0001). Conclusion: This pilot study shows that services for patients with cardiomyopathy are complex, requiring access to a large range of invasive and non-invasive investigations and involvement of multidisciplinary teams. Treatment regimens are equally multifaceted and show that patients are likely to need long-term follow-up in close liaison with expert centres. © The Author 2015.
Συγγραφείς:
Elliott, P.
Charron, P.
Blanes, J.R.G.
Tavazzi, L.
Tendera, M.
Konté, M.
Laroche, C.
Maggioni, A.P.
Anastasakis, A.
Arbustini, E.
Asselbergs, F.W.
Axelsson, A.
Brito, D.
Caforio, A.L.P.
Carr-White, G.
Czekaj, A.
Damy, T.
Devoto, E.
Favalli, V.
Findlay, I.
Garcia-Pavia, P.
Hagège, A.
Heliö, T.
Iliceto, S.
Isnard, R.
Jansweijer, J.A.
Limongelli, G.
Linhart, A.
Cuenca, D.L.
Mansencal, N.
McKeown, P.
Mogensen, J.
Mohiddin, S.A.
Monserrat, L.
Olivotto, I.
Rapezzi, C.
Rigopoulos, A.G.
Rosmini, S.
Pfeiffer, B.
Wicks, E.
Podzimkova, J.
Kuchynka, P.
Palecek, T.
Bundgaard, H.
Thune, J.J.
Kumme, A.
Due Vestergaard, L.
Hey, T.
Ollila, L.
Kaartinen, M.
Dubourg, O.
Arslan, M.
Siam Tsieu, M.
Guellich, A.
Tissot, C.-M.
Guendouz, S.
Thevenin, S.
Cheikh Khelifa, R.
Gandjbakhch, E.
Komajda, M.
Neugebauer, A.
Pfeiffer, B.
Steriotis, A.
Ritsatos, K.
Vlagkouli, V.
Biagini, E.
Gentile, N.
Longhi, S.
Arretini, A.
Fornaro, A.
Cecchi, F.
Spirito, P.
Formisano, F.
Masarone, D.
Valente, F.
Pacileo, G.
Schiavo, A.
Testolina, M.
Serio, A.
Grasso, M.
Wilde, A.
Pinto, Y.
Klöpping, C.
Van Der Heijden, J.F.
De Jonge, N.
Sikora-Puz, A.
Wybraniec, M.
Czekaj, A.
Francisco, A.R.
Brito, D.
Madeira, H.
Ortiz-Genga, M.
Barriales-Villa, R.
Fernandez, X.
Lopez-Cuenca, D.
Gomez-Milanes, I.
Lopez-Ayala, J.M.
Guzzo-Merello, G.
Gallego-Delgado, M.
Muir, A.
McOsker, J.
Jardine, T.
Iqbal, H.
Sekhri, N.
Rajani, R.
Bueser, T.
Watkinson, O.
on behalf of the EORP Cardiomyopathy Registry Pilot Investigators
