Risk stratification and subclinical phenotyping of dilated and/or arrhythmogenic cardiomyopathy mutation-positive relatives: CVON eDETECT consortium.

Autor: Roudijk RW; Netherlands Heart Institute, Utrecht, The Netherlands.; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Taha K; Netherlands Heart Institute, Utrecht, The Netherlands.; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Bourfiss M; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Loh P; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van den Heuvel L; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, University of Utrecht, Utrecht, The Netherlands., Boonstra MJ; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van Lint F; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, University of Utrecht, Utrecht, The Netherlands., van der Voorn SM; Department of Medical Physiology, University Medical Centre Utrecht, Utrecht, The Netherlands., Te Riele ASJM; Netherlands Heart Institute, Utrecht, The Netherlands.; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Bosman LP; Netherlands Heart Institute, Utrecht, The Netherlands.; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Christiaans I; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands., van Veen TAB; Department of Medical Physiology, University Medical Centre Utrecht, Utrecht, The Netherlands., Remme CA; Department of Clinical and Experimental Cardiology, Amsterdam University Medical Centre, Amsterdam, The Netherlands., van den Berg MP; Department of Cardiology, University Medical Centre Groningen, Groningen, The Netherlands., van Tintelen JP; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.; Department of Genetics, University Medical Centre Utrecht, University of Utrecht, Utrecht, The Netherlands.; Durrer Centre, Amsterdam, The Netherlands., Asselbergs FW; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands. F.W.Asselbergs@umcutrecht.nl.; Institute of Cardiovascular Science, Faculty of Population Health Sciences, University College London, London, UK. F.W.Asselbergs@umcutrecht.nl.; Health Data Research UK and Institute of Health Informatics, University College London, London, UK. F.W.Asselbergs@umcutrecht.nl.
Jazyk: angličtina
Zdroj: Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation [Neth Heart J] 2021 Jun; Vol. 29 (6), pp. 301-308. Date of Electronic Publication: 2021 Feb 02.
DOI: 10.1007/s12471-021-01542-1
Abstrakt: In relatives of index patients with dilated cardiomyopathy and arrhythmogenic cardiomyopathy, early detection of disease onset is essential to prevent sudden cardiac death and facilitate early treatment of heart failure. However, the optimal screening interval and combination of diagnostic techniques are unknown. The clinical course of disease in index patients and their relatives is variable due to incomplete and age-dependent penetrance. Several biomarkers, electrocardiographic and imaging (echocardiographic deformation imaging and cardiac magnetic resonance imaging) techniques are promising non-invasive methods for detection of subclinical cardiomyopathy. However, these techniques need optimisation and integration into clinical practice. Furthermore, determining the optimal interval and intensity of cascade screening may require a personalised approach. To address this, the CVON-eDETECT (early detection of disease in cardiomyopathy mutation carriers) consortium aims to integrate electronic health record data from long-term follow-up, diagnostic data sets, tissue and plasma samples in a multidisciplinary biobank environment to provide personalised risk stratification for heart failure and sudden cardiac death. Adequate risk stratification may lead to personalised screening, treatment and optimal timing of implantable cardioverter defibrillator implantation. In this article, we describe non-invasive diagnostic techniques used for detection of subclinical disease in relatives of index patients with dilated cardiomyopathy and arrhythmogenic cardiomyopathy.
Databáze: MEDLINE
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