Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases

Claudio Rapezzi, Eloisa Arbustini, Alida L P Caforio, Philippe Charron, Juan Gimeno-Blanes, Tiina Heliö, Ales Linhart, Jens Mogensen, Yigal Pinto, Arsen Ristic, Hubert Seggewiss, Gianfranco Sinagra, Luigi Tavazzi, Perry M. Elliott

Research output: Contribution to journalArticle

Abstract

In 2008, The ESC Working Group on Myocardial and Pericardial Diseases proposed an updated classification of cardiomyopathies based on morphological and functional phenotypes and subcategories of familial/genetic and non-familial/non-genetic disease. In this position statement, we propose a framework for the clinical approach to diagnosis in cardiomyopathies based on the recognition of diagnostic 'red flags' that can be used to guide rational selection of specialized tests including genetic analysis. The basic premise is that the adoption of a cardiomyopathy-specific mindset which combines conventional cardiological assessment with non-cardiac and molecular parameters increases diagnostic accuracy and thus improves advice and treatment for patients and families.

Original languageEnglish
Pages (from-to)1448-1458
Number of pages11
JournalEuropean Heart Journal
Volume34
Issue number19
DOIs
Publication statusPublished - May 21 2013

Keywords

  • Cardiomyopathy
  • Diagnosis
  • Genotype
  • Phenotype

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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    Rapezzi, C., Arbustini, E., Caforio, A. L. P., Charron, P., Gimeno-Blanes, J., Heliö, T., Linhart, A., Mogensen, J., Pinto, Y., Ristic, A., Seggewiss, H., Sinagra, G., Tavazzi, L., & Elliott, P. M. (2013). Diagnostic work-up in cardiomyopathies: Bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. European Heart Journal, 34(19), 1448-1458. https://doi.org/10.1093/eurheartj/ehs397