title: 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.
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.
authors.affiliation: The Heart Hospital, 16-18 Westmoreland Street, London W1G 8PH, UK.
authors.forename: Claudio
authors.initials: C
authors.lastname: Rapezzi
authors.forename: Eloisa
authors.initials: E
authors.lastname: Arbustini
authors.forename: Alida L P
authors.initials: AL
authors.lastname: Caforio
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
authors.forename: Juan
authors.initials: J
authors.lastname: Gimeno-Blanes
authors.forename: Tiina
authors.initials: T
authors.lastname: Heliö
authors.forename: Ales
authors.initials: A
authors.lastname: Linhart
authors.forename: Jens
authors.initials: J
authors.lastname: Mogensen
authors.forename: Yigal
authors.initials: Y
authors.lastname: Pinto
authors.forename: Arsen
authors.initials: A
authors.lastname: Ristic
authors.forename: Hubert
authors.initials: H
authors.lastname: Seggewiss
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Sinagra
authors.forename: Luigi
authors.initials: L
authors.lastname: Tavazzi
authors.forename: Perry M
authors.initials: PM
authors.lastname: Elliott
mesh_terms: D017668:Age of Onset; D001145:Arrhythmias, Cardiac / Q000175:diagnosis; D054537:Atrioventricular Block / Q000175:diagnosis; D001327:Autoimmune Diseases / Q000235:genetics; D006332:Cardiomegaly / Q000175:diagnosis; D009202:Cardiomyopathies / Q000145:classification / Q000175:diagnosis* / Q000235:genetics; D019411:Clinical Laboratory Techniques / Q000379:methods; D003402:Creatine Kinase / Q000378:metabolism; D003952:Diagnostic Imaging / Q000379:methods; D004562:Electrocardiography; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D009203:Myocardial Infarction / Q000175:diagnosis; D010265:Paraproteinemias / Q000175:diagnosis; D010375:Pedigree; D010641:Phenotype; D010808:Physical Examination
chemical_list: D003402:Creatine Kinase