Aims: Dilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non-familial (sporadic) DCM (SDCM) across Europe. Methods and results: Patients with DCM that were enrolled in the prospective ESC EORP Cardiomyopathy & Myocarditis Registry were included. Baseline characteristics, genetic testing, genetic yield, and outcome were analysed comparing FDCM and SDCM; 1260 adult patients were studied (238 FDCM, 707 SDCM, and 315 not disclosed). Patients with FDCM were younger (P < 0.01), had less severe disease phenotype at presentation (P < 0.02), more favourable baseline cardiovascular risk profiles (P ≤ 0.007), and less medication use (P ≤ 0.042). Outcome at 1 year was similar and predicted by NYHA class (HR 0.45; 95% CI [0.25–0.81]) and LVEF per % decrease (HR 1.05; 95% CI [1.02–1.08]. Throughout Europe, patients with FDCM received more genetic testing (47% vs. 8%, P < 0.01) and had higher genetic yield (55% vs. 22%, P < 0.01). Conclusions: We observed that FDCM and SDCM have significant differences at baseline but similar short-term prognosis. Whether modification of associated cardiovascular risk factors provide opportunities for treatment remains to be investigated. Our results also show a prevalent role of genetics in FDCM and a non-marginal yield in SDCM although genetic testing is largely neglected in SDCM. Limited genetic testing and heterogeneity in panels provides a scaffold for improvement of guideline adherence.
Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry / Asselbergs F.W.; Sammani A.; Elliott P.; Gimeno J.R.; Tavazzi L.; Tendera M.; Kaski J.P.; Maggioni A.P.; Rubis P.P.; Jurcut R.; Helio T.; Calo L.; Sinagra G.; Zdravkovic M.; Olivotto I.; Kavoliuniene A.; Laroche C.; Caforio A.L.P.; Charron P.; Komissarova S.; Chakova N.; Niyazova S.; Linhart A.; Kuchynka P.; Palecek T.; Podzimkova J.; Fikrle M.; Nemecek E.; Bundgaard H.; Tfelt-Hansen J.; Theilade J.; Thune J.J.; Axelsson A.; Mogensen J.; Henriksen F.; Hey T.; Nielsen S.K.; Videbaek L.; Andreasen S.; Arnsted H.; Saad A.; Ali M.; Lommi J.; Helio T.; Nieminennew M.S.; Dubourg O.; Mansencal N.; Arslan M.; Siam Tsieu V.; Damy T.; Guellich A.; Guendouz S.; Tissot C.M.; Lamine A.; Rappeneau S.; Hagege A.; Desnos M.; Bachet A.; Hamzaoui M.; Charron P.; Isnard R.; Legrand L.; Maupain C.; Gandjbakhch E.; Kerneis M.; Pruny J.-F.; Bauer A.; Pfeiffer B.; Felix S.B.; Dorr M.; Kaczmarek S.; Lehnert K.; Pedersen A.-L.; Beug D.; Bruder M.; Bohm M.; Kindermann I.; Linicus Y.; Werner C.; Neurath B.; Schild-Ungerbuehler M.; Seggewiss H.; Pfeiffer B.; Neugebauer A.; McKeown P.; Muir A.; McOsker J.; Jardine T.; Divine G.; Elliott P.; Lorenzini M.; Watkinson O.; Wicks E.; Iqbal H.; Mohiddin S.; O'Mahony C.; Sekri N.; Carr-White G.; Bueser T.; Rajani R.; Clack L.; Damm J.; Jones S.; Sanchez-Vidal R.; Smith M.; Walters T.; Wilson K.; Rosmini S.; Anastasakis A.; Ritsatos K.; Vlagkouli V.; Forster T.; Sepp R.; Borbas J.; Nagy V.; Tringer A.; Kakonyi K.; Szabo L.A.; Maleki M.; Noohi Bezanjani F.; Amin A.; Naderi N.; Parsaee M.; Taghavi S.; Ghadrdoost B.; Jafari S.; Khoshavi M.; Rapezzi C.; Biagini E.; Corsini A.; Gagliardi C.; Graziosi M.; Longhi S.; Milandri A.; Ragni L.; Palmieri S.; Olivotto I.; Arretini A.; Castelli G.; Cecchi F.; Fornaro A.; Tomberli B.; Spirito P.; Devoto E.; Della Bella P.; Maccabelli G.; Sala S.; Guarracini F.; Peretto G.; Russo M.G.; Calabro R.; Pacileo G.; Limongelli G.; Masarone D.; Pazzanese V.; Rea A.; Rubino M.; Tramonte S.; Valente F.; Caiazza M.; Cirillo A.; Del Giorno G.; Esposito A.; Gravino R.; Marrazzo T.; Trimarco B.; Losi M.-A.; Di Nardo C.; Giamundo A.; Musella F.; Pacelli F.; Scatteia A.; Canciello G.; Caforio A.; Iliceto S.; Calore C.; Leoni L.; Perazzolo Marra M.; Rigato I.; Tarantini G.; Schiavo A.; Testolina M.; Arbustini E.; Di Toro A.; Giuliani L.P.; Serio A.; Fedele F.; Frustaci A.; Alfarano M.; Chimenti C.; Drago F.; Baban A.; Lanzillo C.; Martino A.; Uguccioni M.; Zachara E.; Halasz G.; Re F.; Sinagra G.; Carriere C.; Merlo M.; Ramani F.; Kavoliuniene A.; Krivickiene A.; Tamuleviciute-Prasciene E.; Viezelis M.; Celutkiene J.; Balkeviciene L.; Laukyte M.; Paleviciute E.; Pinto Y.; Wilde A.; Asselbergs F.W.; Sammani A.; Van Der Heijden J.; Van Laake L.; De Jonge N.; Hassink R.; Kirkels J.H.; Ajuluchukwu J.; Olusegun-Joseph A.; Ekure E.; Mizia-Stec K.; Czekaj A.; Sikora-Puz A.; Skoczynska A.; Wybraniec M.; Rubis P.; Dziewiecka E.; Wisniowska-Smialek S.; Bilinska Z.; Chmielewski P.; Foss-Nieradko B.; Michalak E.; Stepien-Wojno M.; Mazek B.; Rocha Lopes L.; Almeida A.R.; Cruz I.; Gomes A.C.; Pereira A.R.; Brito D.; Madeira H.; Francisco A.R.; Menezes M.; Moldovan O.; Oliveira Guimaraes T.; Silva D.; Ginghina C.; Jurcut R.; Mursa A.; Popescu B.A.; Apetrei E.; Militaru S.; Mircea Coman I.; Frigy A.; Fogarasi Z.; Kocsis I.; Szabo I.A.; Fehervari L.; Nikitin I.; Resnik E.; Komissarova M.; Lazarev V.; Shebzukhova M.; Ustyuzhanin D.; Blagova O.; Alieva I.; Kulikova V.; Lutokhina Y.; Pavlenko E.; Varionchik N.; Ristic A.D.; Seferovic P.M.; Veljic I.; Zivkovic I.; Milinkovic I.; Pavlovic A.; Radovanovic G.; Simeunovic D.; Zdravkovic M.; Aleksic M.; Djokic J.; Hinic S.; Klasnja S.; Mircetic K.; Monserrat L.; Fernandez X.; Garcia-Giustiniani D.; Larranaga J.M.; Ortiz-Genga M.; Barriales-Villa R.; Martinez-Veira C.; Veira E.; Cequier A.; Salazar-Mendiguchia J.; Manito N.; Gonzalez J.; Fernandez-Aviles F.; Medrano C.; Yotti R.; Cuenca S.; Espinosa M.A.; Mendez I.; Zatarain E.; Alvarez R.; Garcia-Pavia P.; Briceno A.; Cobo-Marcos M.; Dominguez F.; De Teresa Galvan E.; Garcia Pinilla J.M.; Abdeselam-Mohamed N.; Lopez-Garrido M.A.; Morcillo Hidalgo L.; Ortega-Jimenez M.V.; Robles Mezcua A.; Guijarro-Contreras A.; Gomez-Garcia D.; Robles-Mezcua M.; Gimeno Blanes J.R.; Castro F.J.; Munoz Esparza C.; Sabater Molina M.; Sorli Garcia M.; Lopez Cuenca D.; Ripoll-Vera T.; Alvarez J.; Nunez J.; Gomez Y.; Sanchez Fernandez P.L.; Villacorta E.; Avila C.; Bravo L.; Diaz-Pelaez E.; Gallego-Delgado M.; Garcia-Cuenllas L.; Plata B.; Lopez-Haldon J.E.; Pena Pena M.L.; Cantero Perez E.M.; Zorio E.; Arnau M.A.; Sanz J.; Marques-Sulex E.. - In: ESC HEART FAILURE. - ISSN 2055-5822. - STAMPA. - 8:(2021), pp. 95-105. [10.1002/ehf2.13100]
Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry
Maggioni A. P.;Sinagra G.;Olivotto I.;Longhi S.;Olivotto I.;Arretini A.;Tomberli B.;Della Bella P.;Sala S.;Pacileo G.;Caiazza M.;Musella F.;Calore C.;Schiavo A.;Serio A.;Sinagra G.;Gonzalez J.;
2021
Abstract
Aims: Dilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non-familial (sporadic) DCM (SDCM) across Europe. Methods and results: Patients with DCM that were enrolled in the prospective ESC EORP Cardiomyopathy & Myocarditis Registry were included. Baseline characteristics, genetic testing, genetic yield, and outcome were analysed comparing FDCM and SDCM; 1260 adult patients were studied (238 FDCM, 707 SDCM, and 315 not disclosed). Patients with FDCM were younger (P < 0.01), had less severe disease phenotype at presentation (P < 0.02), more favourable baseline cardiovascular risk profiles (P ≤ 0.007), and less medication use (P ≤ 0.042). Outcome at 1 year was similar and predicted by NYHA class (HR 0.45; 95% CI [0.25–0.81]) and LVEF per % decrease (HR 1.05; 95% CI [1.02–1.08]. Throughout Europe, patients with FDCM received more genetic testing (47% vs. 8%, P < 0.01) and had higher genetic yield (55% vs. 22%, P < 0.01). Conclusions: We observed that FDCM and SDCM have significant differences at baseline but similar short-term prognosis. Whether modification of associated cardiovascular risk factors provide opportunities for treatment remains to be investigated. Our results also show a prevalent role of genetics in FDCM and a non-marginal yield in SDCM although genetic testing is largely neglected in SDCM. Limited genetic testing and heterogeneity in panels provides a scaffold for improvement of guideline adherence.File | Dimensione | Formato | |
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ESC Heart Failure - 2020 - Asselbergs - Differences between familial and sporadic dilated cardiomyopathy ESC EORP.pdf
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