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entire financial support from the ESC without any involvement from the healthcare industry. The ESC Clinical Practice Guidelines (CPG) Committee supervises and co-ordinates the preparation of new guidelines and is responsible for the approval process. ESC Guidelines undergo extensive review by the CPG Committee and external experts, including members from across the whole of the ESC region and from relevant ESC Subspecialty Communities and National Cardiac Societies. After appropriate revisions, the guidelines are signed off by all the experts involved in the Task Force. The finalized document is signed off by the CPG Committee for publication in the European Heart Journal. The guidelines were developed after careful consideration of the scientific and medical knowledge and the evidence available at the time of their writing. Tables of evidence summarizing the findings of studies informing development of the guidelines are included. The ESC warns readers that the technical language may be misinterpreted and declines any responsibility in this respect. Off-label use of medication may be presented in this guideline if a sufficient level of evidence shows that it can be considered medically appropriate for a given condition. However, the final decisions concerning an individual patient must be made by the responsible health professional giving special consideration to: • The specific situation of the patient. Unless otherwise provided for by national regulations, off-label use of medication should be limited to situations where it is in the patient’s interest, with regard to the quality, safety, and efficacy of care, and only after the patient has been informed and has provided consent. • Country-specific health regulations, indications by governmental drug regulatory agencies, and the ethical rules to which health professionals are subject, where applicable. 2 Introduction The objective of this European Society of Cardiology (ESC) Guideline is to help healthcare professionals diagnose and manage patients with cardiomyopathies according to the best available evidence. Uniquely for relatively common cardiovascular diseases, there are very few randomized controlled clinical trials in patients with cardiomyopathies. For this reason, the majority of the recommendations in this guideline are based on observational cohort studies and expert consensus opinion. The aim is to provide healthcare professionals with a practical diagnostic and treatment framework for patients of all ages and, as an increasing number of patients have a known genetic basis for their disease, the guideline also considers the implications of a diagnosis for families and provides advice on reproduction and contraception. As cardiomyopathies can present at any age and can affect individuals and families across the entire life course, this guideline follows the principle of considering cardiomyopathies in all age groups as single disease entities, with recommendations applicable to children and adults with cardiomyopathy throughout, while accepting that the evidence base for many of the recommendations is significantly more limited for children. Age-related differences are specifically highlighted. This is a new guideline, not an update of existing guidelines, with the exception of the section on hypertrophic cardiomyopathy (HCM), in which we have provided a focused update to the 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy.1 As such, most of the recommendations in this guideline are new. It is beyond the scope of this guideline to provide detailed descriptions and recommendations for each individual cardiomyopathy phenotype; instead, the aim is to provide a guide to the diagnostic approach to cardiomyopathies, highlight general evaluation and management issues, and signpost the reader to the relevant evidence base for the recommendations. Adoption of morphological and functional disease definitions means that the number of possible aetiologies is considerable, particularly in young children. As it is impractical to provide an exhaustive compendium of all possible causes of cardiomyopathy, the guideline focuses on the most common disease phenotypes, but additional references for less common disorders are also provided. Similarly, treatment recommendations focus largely on generic management issues but refer to specific rare diseases when appropriate. The central illustration (Figure 1) highlights key aspects in the evaluation and management of cardiomyopathies addressed in this guideline. This is the first major international guideline to address cardiomyopathies other than HCM. Other major innovations include: • A new phenotypic description of cardiomyopathies, including updated descriptions of dilated and non-dilated left ventricular (LV) cardiomyopathy phenotypes, and highlighting the key role of ventricular myocardial scar assessment using cardiac magnetic resonance (CMR) imaging. • A focus on the patient pathway, from presentation, through initial assessment and diagnosis, to management, highlighting the importance of considering cardiomyopathy as a cause of common clinical presentations (e.g. heart failure, arrhythmia) and the importance of utilizing a multiparametric approach following the identification of the presenting phenotype to arrive at an aetiological diagnosis. • Updated recommendations for clinical and genetic cascade screening for relatives of individuals with cardiomyopathies. • A focus on cardiomyopathies across the life course, from paediatric to adult age (including transition), and considering the different clinical phases (e.g. concealed, overt, end stage). • New recommendations on sudden cardiac death (SCD) risk stratification for different cardiomyopathy phenotypes, including in childhood, and highlighting the important role of genotype in the assessment of sudden death risk. • Updated recommendations for the management of left ventricular outflow tract obstruction (LVOTO) in HCM. • A multidisciplinary approach to cardiomyopathies that has the patient and their family at its heart. 3 Phenotypic approach to cardiomyopathies In medicine, classification systems are used to standardize disease nomenclature by grouping disorders according to shared characteristics. In 2008, the ESC promoted a pragmatic system for the clinical description of cardiomyopathies in which a historical focus on ventricular morphology and function was maintained, while signposting aetiological diversity through subdivision into genetic and non-genetic subtypes.2 Since then, knowledge of cardiomyopathies has increased substantially through the application of new imaging and molecular technologies. In this guideline, the Task Force took a number of considerations into account when deciding its approach to disease description. These included: (i) a historical legacy which, while still useful, has led to contradictory and confusing terminology in many situations; (ii) the evolving nature of cardiomyopathies over a lifetime; (iii) aetiological complexity with multiple disease processes contributing to disease phenotypes; ESC Guidelines 3511 Downloaded from academic.oup.com/eurheartj/article/44/37/3503/7246608 by guest on 07 October 2026