Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry
Cardiomyopathy & Myocarditis Registry Investigators Group
(2021) ESC heart failure, volume 8, issue 1, pp. 95 - 105
(Article)
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
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& 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.
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Keywords: Dilated cardiomyopathy, Europe, Familial, Genetic, Prognosis, Sporadic, Cardiology and Cardiovascular Medicine
ISSN: 2055-5822
Publisher: The Heart Failure Association of the European Society of Cardiology
Note: Funding Information: Since the start of EORP, the following companies have supported the programme: Abbott Vascular Int. (2011–2021), Amgen Cardiovascular (2009–2018), AstraZeneca (2014–2021), Bayer AG (2009–2018), Boehringer Ingelheim (2009–2019), Boston Scientific (2009–2012), The Bristol Myers Squibb and Pfizer Alliance (2011–2019), Daiichi Sankyo Europe GmbH (2011–2020), The Alliance Daiichi Sankyo Europe GmbH and Eli Lilly and Company (2014–2017), Edwards (2016–2019), Gedeon Richter Plc. (2014–2016), Menarini Int. Op. (2009–2012), MSD‐Merck & Co. (2011–2014), Novartis Pharma AG (2014–2020), ResMed (2014–2016), Sanofi (2009–2011), SERVIER (2009–2021), and Vifor (2019–2022). Folkert Asselbergs is supported by UCL Hospitals NIHR Biomedical Research and CVON 2015‐12 eDETECT. Arjan Sammani is supported by the UMC Utrecht Alexandre Suerman Stipendium and CVON 2015‐12 eDETECT YTP. Juan Pablo Kaski is supported by the NIHR Great Ormond Street Hospital BRC and the British Heart Foundation and the Medical Research Council. Funding Information: F.W.A., A.S., A.L.P.C., C.L., J.R.G., P.E., P.P.R., R.J., L.C., and M.Z. have nothing to disclose. L.T. reports personal fees from Servier and CVIE Therapeutics outside the submitted work. M.T. reports personal fees from Bayer, Cadila Pharmaceuticals, Janssen‐Cilag, Kowa, OncoArendi, PERFUSE Group, Servier, and UCB Pharmaceuticals outside the submitted work. J.P.K. reports grants from British Heart Foundation and Medical Research Council Clinical Academic Research Partnership outside the submitted work. A.P.M. reports personal fees from Novartis, Bayer, and Fresenius outside the submitted work. H.T. reports other from cardiology consultant at Blueprint Genetics; personal fees from Sanofi‐Genzyme, Amgen, and Pfizer; and non‐financial support from Alnylam and MSD outside the submitted work. G.S. reports personal fees from Novartis, Vifor Pharma, Boston, Bayer, AstraZeneca, and Dompè outside the submitted work. I.O. reports grants and personal fees from Shire Takeda, Sanofi‐Genzyme, and Myokardia; grants from Amicus and Bayer; and grants Menarini International outside the submitted work. A.K. reports grants from Research Council of Lithuania; other from Novartis Int; and personal fees from Bayer, Berlin‐Chemie, and Menarini outside the submitted work. P.C. reports personal fees from Amicus, Pfizer, and Alnylam outside the submitted work. Publisher Copyright: ©2020 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.
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