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.; Esposito, A.. - In: ESC HEART FAILURE. - ISSN 2055-5822. - 8:1(2021), pp. 95-105. [10.1002/ehf2.13100]
Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry
Esposito A.Membro del Collaboration Group
2021-01-01
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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