New 2023 guidelines for the management of cardiomyopathies

A new set of European Society of Cardiology (ESC) guidelines was shared at the 2023 ESC conference in Amsterdam, Netherlands. Dr Elena Biagini of Italy, Dr James Ware of the UK, Dr Pablo Garcia-Pavia of Spain, and Dr Iacopo Olivotto of Italy are part of the guidelines task force and spoke about key developments at the Sunday session. Dr Biagini began by sharing the objective of the ESC guideline: to help healthcare professionals diagnose and manage patients with cardiomyopathies according to the best available evidence. She shared that the majority of recommendations in the guideline are based on observational cohort studies and expert consensus opinions due to the lack of randomised controlled clinical trials in cardiomyopathy patients. Dr Baigini also informed the audience that most of the guidelines are new, rather than an update on existing guidelines, with the exception of the section on hypertrophic cardiomyopathy (HCM), which has been updated from the 2014 ESC guidelines.

Cardiomyopathy is a term that refers to a heterogeneous collection of diseases characterised by impaired heart muscle. There are several subtypes of cardiomyopathy, including HCM, dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), and restrictive cardiomyopathy (RCM). Current treatment options include angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), beta-blockers, SLGT2 inhibitors, and more. Notably, none of these drugs are disease-modifying, and instead merely function to manage symptoms. Thus, having a cure for the disease remains an area of unmet need.

The ESC task force has updated the existing clinical classification to include new phenotypic descriptions and to simplify terminology, recommending an approach for disease nomenclature and diagnosis that is based upon the predominant cardiac phenotype at presentation. Some of the recommendations are shared below:

• Recommendation Class I Level C: It is recommended that all patients with cardiomyopathy and their relatives have access to multidisciplinary teams with expertise in the diagnosis and management of cardiomyopathies.
• Recommendation Class I Level C: All patients with suspected or established cardiomyopathy are recommended to undergo a systematic evaluation using a parametric approach including clinical evaluation, pedigree analysis, electrocardiogram (ECG), Holter monitoring, laboratory tests, and multimodality imaging.
• Recommendation Class I Level C: All patients with suspected cardiomyopathy are recommended to undergo an evaluation of family history, and a three- to four-generation family tree should be created to aid in diagnosis, provide clues to underlying aetiology, determine inheritance patterns, and identify at-risk individuals.
• Recommendation Class I Level B: Contrast-enhanced cardiac magnetic resonance (CMR) is recommended in patients with cardiomyopathy at initial evaluation.
• Recommendation Class IIa Level C: Contrast-enhanced CMR should be considered in patients with cardiomyopathy during follow-up to monitor disease progression and aid in risk stratification and management.
• Recommendation Class IIa Level B: Contrast-enhanced CMR should be considered in genotype-positive/phenotype-negative family members to aid in diagnosis and detect early disease in families with cardiomyopathy in which a disease-causing variant has been identified.
• Recommendation Class IIa Level C: Contrast-enhanced cardiac computed tomography (CT) should be considered in patients with suspected cardiomyopathy who have inadequate echocardiographic imaging and contraindications to CMR.
• Recommendation Class IIa Level C: Endomyocardial biopsy (EMB) should be considered in patients with suspected cardiomyopathy to aid in diagnosis and management when the results of other clinical investigations suggest myocardial inflammation, infiltration, or storage that cannot be identified by other means.
• Recommendation Class I Level B: Genetic testing is recommended in patients who fulfil diagnostic criteria for cardiomyopathy in cases where it enables diagnosis, prognostication, therapeutic stratification, or reproductive management of the patient, or where it enables a cascade genetic evaluation of the patient’s relatives who would otherwise be enrolled into long-term surveillance.
• Recommendation Class I Level C: Postmortem genetic testing is recommended for a deceased individual who had cardiomyopathy if a genetic diagnosis would facilitate the management of surviving relatives.
• Recommendation Class IIb Level C: Genetic testing may be considered in patients who fulfil diagnostic criteria for cardiomyopathy when it will have a net benefit to the patient, considering the patient’s psychological impact and preference, even if it does not enable diagnosis, prognostication, or therapeutic stratification, or cascade genetic screening of their relatives.
• Recommendation Class I Level B: Cascade genetic testing, with pre-test and post-test counselling, is recommended to be offered to adult relatives who are at risk if a confident genetic diagnosis has been established in a family member with cardiomyopathy in the family.
• Recommendation Class III Level C: Diagnostic genetic testing is not recommended in a phenotype-negative relative of a patient with cardiomyopathy in the absence of a confident genetic diagnosis in the family.

These recommendations emphasize both the importance of having a multidisciplinary treatment team and the role of genetics in cardiomyopathy inheritance. More robust cardiomyopathy screening in families with a cardiomyopathy patient could facilitate the earlier identification of cases. Genetic therapies may be a future area of clinical trial development, as therapies that address the underlying aetiology of the disease are needed so that cardiomyopathies can be treated.