New ESC guideline on cardiomyopathies

The European Society of Cardiology (ESC) recently published a new guideline on cardiomyopathies.¹ This is the first international guideline document to include all cardiomyopathy subtypes, and the first time that specific recommendations are made for cardiomyopathies other than hypertrophic cardiomyopathy (HCM).

“This pioneering document reflects advances in genetics and cardiac imaging and the advent of new treatments that target specific causes of disease,” said guidelines taskforce chairperson Dr Elena Arbelo, University of Barcelona, Spain.

A new phenotypic description of cardiomyopathies, including updated descriptions of dilated and non-dilated left ventricular cardiomyopathy phenotypes, is presented. Throughout, the document focuses on the most common disease phenotypes, but additional references for less common disorders are also provided.

Compared with the 2014 ESC guidelines on diagnosis and management of HCM, updated recommendations are given for clinical and genetic cascade screening for relatives of individuals with all cardiomyopathy phenotypes. There is now increased recognition that paediatric cardiomyopathies represent part of the spectrum of the same diseases that are seen in adolescents and adults. As such, the document focuses on cardiomyopathies across the life course, from paediatric to adult age (including transition) and considers the different clinical phases (eg, concealed, overt, end stage). New recommendations on sudden cardiac death risk stratification are given for different cardiomyopathy phenotypes, including in childhood, and they highlight the important role of genotype in the assessment of sudden death risk.

A dedicated section of the guidelines provides advice for patients living with a cardiomyopathy, which covers topics such as exercise, diet, alcohol, weight, reproductive issues, sexual activity, medication, vaccination, driving, employment, and insurance. Finally, identification and management of risk factors and concomitant diseases is recommended as an integral part of the management of cardiomyopathy patients.

Common

Overall, cardiomyopathies are relatively common, affecting around one in every 250 people, and can present at any age, with a frequent genetic component. Some cardiomyopathies are more common than others, however, and the risks and complications are also variable. Many people have very few, if any, symptoms, but others experience fatigue, shortness of breath, chest pain, palpitations, and fainting, and have complications, such as stroke or sudden death.

For all cardiomyopathies, management aims to identify and treat symptoms, prevent complications and screen at-risk relatives. Identifying those at increased risk of sudden death is a major focus of these guidelines.

Cardiomyopathy should be considered as the potential cause of other conditions such as heart failure. “Imaging techniques including echocardiography and cardiac MRI are essential for the diagnosis of certain subtypes and can help identify patients at risk of sudden death,” said Dr Arbelo.

Genetic counselling, including genetic education to inform decision-making and psychosocial support, is recommended for families with an inherited or suspected inherited cardiomyopathy, regardless of whether genetic testing is being considered. It should be offered before a decision to test is made and when the results are returned to the patient and their family.

Many subtypes are inherited in an autosomal dominant way, meaning that offspring have a 50 per cent chance of inheriting the mutation. When such a mutation is found, testing of relatives can be considered.

A dedicated section of the guidelines provides advice for patients on living with a cardiomyopathy. This includes exercise, diet, alcohol, weight, reproductive issues, sexual activity, medication, vaccination, driving, employment, holidays and travel insurance, and life insurance.

Exercise

Cardiomyopathies are the leading cause of exercise-related sudden cardiac death in young people in the Western world, the ESC notes. In some cardiomyopathies, exercise accelerates progression of the disease, and this has historically resulted in recommendations for all such patients to limit activity. However, these guidelines recommend regular low-to-moderate intensity exercise for all patients with cardiomyopathy who are able to do so. An individualised risk assessment should be performed so that an exercise prescription can be provided taking into account the prevention of life-threatening arrhythmias during exercise, symptom management to allow sports, and preventing sports-induced progression of the disease. Patients with certain cardiomyopathies should avoid very high intensity or competitive sports.

The guidelines recommend a multidisciplinary approach to patient care, and timely and adequate preparation for transition of care from paediatric to adult cardiomyopathy services. They emphasise the need for integrated care between specialist cardiomyopathy teams and other specialties, as well as close interactions between primary, secondary, and tertiary care.

Reference

Arbelo E, Protonotarios A, Gimeno JR, et al. ESC Scientific Document Group. 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J. 2023 Oct 1;44(37):3503-3626