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Risk stratification and subclinical phenotyping of dilated and/or arrhythmogenic cardiomyopathy mutation-positive relatives: CVON eDETECT consortium.
Roudijk, R W; Taha, K; Bourfiss, M; Loh, P; van den Heuvel, L; Boonstra, M J; van Lint, F; van der Voorn, S M; Te Riele, A S J M; Bosman, L P; Christiaans, I; van Veen, T A B; Remme, C A; van den Berg, M P; van Tintelen, J P; Asselbergs, F W.
Afiliación
  • Roudijk RW; Netherlands Heart Institute, Utrecht, The Netherlands.
  • Taha K; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Bourfiss M; Netherlands Heart Institute, 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 Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, 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.
  • van der Voorn SM; Department of Genetics, University Medical Centre Utrecht, University of Utrecht, Utrecht, The Netherlands.
  • Te Riele ASJM; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
  • Bosman LP; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
  • Christiaans I; Department of Genetics, University Medical Centre Utrecht, University of Utrecht, Utrecht, The Netherlands.
  • van Veen TAB; Department of Medical Physiology, University Medical Centre Utrecht, Utrecht, The Netherlands.
  • Remme CA; Netherlands Heart Institute, Utrecht, The Netherlands.
  • van den Berg MP; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
  • van Tintelen JP; Netherlands Heart Institute, Utrecht, The Netherlands.
  • Asselbergs FW; Department of Cardiology, Division Heart and Lungs, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.
Neth Heart J ; 29(6): 301-308, 2021 Jun.
Article en En | MEDLINE | ID: mdl-33528799
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Neth Heart J Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Neth Heart J Año: 2021 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos