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

Autor: Asselbergs FW; Department of Cardiology, University Medical Centre Utrecht, University of Utrecht, Heidelberglaan 100, Utrecht, 3584CX, The Netherlands.; Institute of Cardiovascular Science and Institute of Health Informatics, Faculty of Population Health Sciences, University College London, London, UK., Sammani A; Department of Cardiology, University Medical Centre Utrecht, University of Utrecht, Heidelberglaan 100, Utrecht, 3584CX, The Netherlands., Elliott P; Barts Heart Centre, St Bartholomew's Hospital, University College London and Inherited Cardiac Diseases Unit, London, UK., Gimeno JR; Cardiac Department, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain., Tavazzi L; GVM Care & Research, Maria Cecilia Hospital, Cotignola, Italy., Tendera M; Department of Cardiology and Structural Heart Diseases, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland., Kaski JP; Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, UK and University College London Institute of Cardiovascular Science, London, UK., Maggioni AP; GVM Care & Research, Maria Cecilia Hospital, Cotignola, Italy.; EUR Observational Research Programme, European Society of Cardiology, Sophia-Antipolis, France., Rubis PP; Department of Cardiac and Vascular Diseases, Jagiellonian University Medical College, John Paul II Hospital, Krakow, Poland., Jurcut R; Department of Cardiology, Emergency Institute of Cardiovascular Diseases C.C. Iliescu, Bucharest, Romania., Heliö T; Department of Cardiology, Helsinki University Central Hospital Meilahti, Helsinki, Finland., Calò L; U.O. Cardiologia, Policlinico Casilino, Rome, Italy., Sinagra G; Cardiovascular Department, Azienda Sanitaria Universitaria Integrata Giuliano Isontina, Trieste, Italy., Zdravkovic M; Clinical Hospital Center Bezanijska kosa, Faculty of Medicine, University of Belgrade, Beograd, Serbia., Olivotto I; Cardiomyopathy Unit, Careggi University Hospital, Florence, Italy., Kavoliūnienė A; Department of Cardiology, Lithuanian University of Health Sciences, Kaunas, Lithuania., Laroche C; EUR Observational Research Programme, European Society of Cardiology, Sophia-Antipolis, France., Caforio ALP; Division of Cardiology, Department of Cardiological Thoracic and Vascular Sciences and Public Health, University of Padova, Padova, Italy., Charron P; APHP, Centre de Référence des Maladies Cardiaques Héréditaires, ICAN, Hôpital Pitié-Salpêtrière, Sorbonne Université, Paris, France.
Jazyk: angličtina
Zdroj: ESC heart failure [ESC Heart Fail] 2021 Feb; Vol. 8 (1), pp. 95-105. Date of Electronic Publication: 2020 Nov 11.
DOI: 10.1002/ehf2.13100
Abstrakt: 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.
(©2020 The Authors. ESC Heart Failure published by John Wiley & Sons Ltd on behalf of the European Society of Cardiology.)
Databáze: MEDLINE
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