Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Folkert W. Asselbergs; Arjan Sammani; Perry Elliott; Juan R. Gimeno; Luigi Tavazzi; Michael Tendera; Juan Pablo Kaski; Aldo P. Maggioni; Pawel P. Rubis; Ruxandra Jurcut; Tiina Heliö; Leonardo Calò; Gianfranco Sinagra; Marija Zdravkovic; Iacopo Olivotto; Aušra Kavoliūnienė; Cécile Laroche; Alida L.P. Caforio; Philippe Charron; Cardiomyopathy & Myocarditis Registry Investigators Group

doi:10.1002/ehf2.13100

Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Folkert W. Asselbergs^*, Arjan Sammani, Perry Elliott, Juan R. Gimeno, Luigi Tavazzi, Michael Tendera, Juan Pablo Kaski, Aldo P. Maggioni, Pawel P. Rubis, Ruxandra Jurcut, Tiina Heliö, Leonardo Calò, Gianfranco Sinagra, Marija Zdravkovic, Iacopo Olivotto, Aušra Kavoliūnienė, Cécile Laroche, Alida L.P. Caforio, Philippe Charron, Cardiomyopathy & Myocarditis Registry Investigators Group

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Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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.

Originalsprog	Engelsk
Tidsskrift	ESC Heart Failure
Vol/bind	8
Udgave nummer	1
Sider (fra-til)	95-105
Antal sider	11
ISSN	2055-5822
DOI	https://doi.org/10.1002/ehf2.13100
Status	Udgivet - feb. 2021

Bibliografisk 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.

Dokumenter og links

10.1002/ehf2.13100Licens: CC BY-NC

Citationsformater

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., Heliö, T., Calò, L., Sinagra, G., Zdravkovic, M., Olivotto, I., Kavoliūnienė, A., Laroche, C., Caforio, A. L. P., Charron, P., & Cardiomyopathy & Myocarditis Registry Investigators Group (2021). Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry. ESC Heart Failure, 8(1), 95-105. https://doi.org/10.1002/ehf2.13100

@article{01fd61ff55d14f1a98af8b0e359bb59d,

title = "Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry",

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.",

keywords = "Dilated cardiomyopathy, Europe, Familial, Genetic, Prognosis, Sporadic, Prospective Studies, Humans, Cardiomyopathy, Dilated/epidemiology, Europe/epidemiology, Adult, Cardiomyopathies, Registries, Myocarditis/diagnosis",

author = "Asselbergs, {Folkert W.} and Arjan Sammani and Perry Elliott and Gimeno, {Juan R.} and Luigi Tavazzi and Michael Tendera and Kaski, {Juan Pablo} and Maggioni, {Aldo P.} and Rubis, {Pawel P.} and Ruxandra Jurcut and Tiina Heli{\"o} and Leonardo Cal{\`o} and Gianfranco Sinagra and Marija Zdravkovic and Iacopo Olivotto and Au{\v s}ra Kavoliūnienė and C{\'e}cile Laroche and Caforio, {Alida L.P.} and Philippe Charron and {Cardiomyopathy & Myocarditis Registry Investigators Group} and J. Theilade and J. Mogensen and F. Henriksen and T. Hey and Nielsen, {S. K.} and L. Videbaek",

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 Domp{\`e} 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. ",

year = "2021",

month = feb,

doi = "10.1002/ehf2.13100",

language = "English",

volume = "8",

pages = "95--105",

journal = "ESC Heart Failure",

issn = "2055-5822",

publisher = "Wiley",

number = "1",

}

Asselbergs, FW, Sammani, A, Elliott, P, Gimeno, JR, Tavazzi, L, Tendera, M, Kaski, JP, Maggioni, AP, Rubis, PP, Jurcut, R, Heliö, T, Calò, L, Sinagra, G, Zdravkovic, M, Olivotto, I, Kavoliūnienė, A, Laroche, C, Caforio, ALP, Charron, P & Cardiomyopathy & Myocarditis Registry Investigators Group 2021, 'Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry', ESC Heart Failure, bind 8, nr. 1, s. 95-105. https://doi.org/10.1002/ehf2.13100

TY - JOUR

T1 - Differences between familial and sporadic dilated cardiomyopathy

T2 - ESC EORP Cardiomyopathy & Myocarditis registry

AU - Asselbergs, Folkert W.

AU - Sammani, Arjan

AU - Elliott, Perry

AU - Gimeno, Juan R.

AU - Tavazzi, Luigi

AU - Tendera, Michael

AU - Kaski, Juan Pablo

AU - Maggioni, Aldo P.

AU - Rubis, Pawel P.

AU - Jurcut, Ruxandra

AU - Heliö, Tiina

AU - Calò, Leonardo

AU - Sinagra, Gianfranco

AU - Zdravkovic, Marija

AU - Olivotto, Iacopo

AU - Kavoliūnienė, Aušra

AU - Laroche, Cécile

AU - Caforio, Alida L.P.

AU - Charron, Philippe

AU - Cardiomyopathy & Myocarditis Registry Investigators Group

A2 - Theilade, J.

A2 - Mogensen, J.

A2 - Henriksen, F.

A2 - Hey, T.

A2 - Nielsen, S. K.

A2 - Videbaek, L.

N1 - 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.

PY - 2021/2

Y1 - 2021/2

N2 - 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.

AB - 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.

KW - Dilated cardiomyopathy

KW - Europe

KW - Familial

KW - Genetic

KW - Prognosis

KW - Sporadic

KW - Prospective Studies

KW - Humans

KW - Cardiomyopathy, Dilated/epidemiology

KW - Europe/epidemiology

KW - Adult

KW - Cardiomyopathies

KW - Registries

KW - Myocarditis/diagnosis

U2 - 10.1002/ehf2.13100

DO - 10.1002/ehf2.13100

M3 - Journal article

C2 - 33179448

AN - SCOPUS:85102217313

SN - 2055-5822

VL - 8

SP - 95

EP - 105

JO - ESC Heart Failure

JF - ESC Heart Failure

IS - 1

ER -

Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Abstract

Bibliografisk note

Dokumenter og links

Fingeraftryk

Citationsformater