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The diseases

Cardiomyopathies are a group of diseases affecting the heart muscle.1 Cardiomyopathies collectively affect ~1 in 330 people2 corresponding to around 1.5 million people in the European Union (EU), UK and Norway in Europe and can occur at any age. 

The prevalence of cardiomyopathy, and the associated disease burden, is rising3and yet underdiagnosis, misdiagnosis and late diagnosis remain widespread. Some cardiomyopathies are often, or usually, caused by inherited pathogenic genetic mutations: a causative genetic mutation can be identified in around 20–60%2 of cases of the main four types of cardiomyopathy.4 

Cardiomyopathies often cause heart failure, which can be incapacitating, and abnormal heart rhythms, which can be life-threatening. The risk of sudden death is a key concern for patients, in addition to the symptoms and functional impairment.

Cardiomyopathies can significantly impair patients’ health-related quality of life by limiting patients’ activities in daily life and impairing psychological wellbeing. Their impact can also affect patients’ employment, finances and education. Families and informal caregivers can also be affected, e.g. by limiting their own ability to work owing to care activities, or because of financial pressures.

Cardiomyopathies cannot be cured at present. Current management depends on the type of cardiomyopathy but generally focuses on relieving symptoms and reducing the risks of complications.5

Cardiomyopathies contribute to the enormous costs of cardiovascular disease, which accounts for more healthcare spending than any other disease area.6 Cardiomyopathies confer significant healthcare costs per patient, primarily related to hospitalisations due to complications.7 The indirect socioeconomic costs to society through lost productivity must also be recognised.

Policy actions are necessary to address key challenges and unmet needs throughout the care pathway for cardiomyopathies – including diagnosis, disease management and supportive care. It is vital to empower patients and families at all stages of care, and to foster research and innovation in this under-recognised field.

  1. Elliott P, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 2008;29:270–6
  2. European Society of Cardiology Registry on cardiomyopathy and myocarditis, available from: https://www.escardio.org/Research/Registries-&-surveys/Observational-research-programme/Cardiomyopathy-and-Myocarditis-Registry
  3. World Hearth Federation website. Trends in cardiovascular disease. https://worldheartobservatory.org/trends/
  4. Wilde AAM, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases. Heart Rhythm 2022;19:e1–e60
  5. Elliott PM, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 2014;35:2733–79
  6. European Heart Network. European cardiovascular disease statistics. 2017 https://ehnheart.org/cvd-statistics/cvd-statistics-2017
  7. Lannou S, et al. The public health burden of cardiomyopathies: insights from a nationwide inpatient study. J Clin Med 2020;9:92