ESC Issues First Comprehensive Cardiomyopathy Guidelines

The European Society of Cardiology has released new guidelines for cardiomyopathies, their first major comprehensive international guidelines to address diagnosis and treatment of the broad causes of heart muscle dysfunction.

The document was released in conjunction with the European Society of Cardiology (ESC) Congress 2023 and is now available online in the European Heart Journal.

"We have considered cardiomyopathies across the life course from pediatric to adult," explained Elena Arbelo, MD, PhD, coordinator of the Cardiac Genetic Diseases and Sudden Arrhythmic Death Unit, Hospital Clinic de Barcelona, Spain. Arbelo is first author and one of two chairpersons of the ESC task force that brought the guidelines forward.

Not an update, the ESC guidelines are the first to "include all cardiomyopathy subtypes, and the first time that specific recommendations are made for cardiomyopathies other than hypertrophic cardiomyopathy" (HCM), Arbelo said.

Guidelines Organize Cardiomyopathy Phenotypes

Cardiomyopathy can present at any age. It can have multiple complex etiologies, including genetic predisposition, heart muscle injury due to disease, or a mix of participating factors. The ESC task force employed several strategies in taking a comprehensive approach to the condition, said Juan Kaski, MD, PhD, professor of pediatric inherited cardiovascular medicine at the University College of London, United Kingdom.

"From my point of view, the key innovations include a diagnostic workup that starts with a detailed phenotypic description, including the new phenotype of nondilated left ventricular cardiomyopathy, that then triggers a multiparametric, systematic evaluation," said Kaski, co-chair of the task force.

As explained in the introduction to the guideline and reiterated by both Arbelo and Kaski, the guidelines have been organized around the patient pathway, meaning that focus should be placed on recognizing the presenting phenotype as a critical first step in discerning the underlying etiology and its treatments.

"Central to this approach is not only the individual patient but also the family as a whole," Arbelo said. "Clinical findings in relatives are essential for understanding what happens to the patient and vice versa."

Genetic Testing in Children Described

The new guidelines include specific recommendations about genetic testing of children. They also emphasize the value of cardiovascular magnetic resonance (CMR) imaging in the "diagnosis, screening, monitoring, and prognostication" for patients of all ages, according to Kaski.

"CMR is recommended at the initial evaluation for every patient with cardiomyopathy," Arbelo said. It should be "considered" during follow-up and for many other applications, including the evaluation of "genotype-positive but phenotype-negative relatives," she added.

Etiologic prediction models have been incorporated into the guidelines, including genotyping for dilated cardiomyopathies and nondilated left ventricular cardiomyopathy, said both Arbelo and Kaski, interviewed separately. They both indicated that the task force did their best to make the guidelines user friendly.

Each of the recommendations in the guidelines is provided with an evidence-based classification. In order, these are class I (recommended), class IIa (should be considered), class IIb (may be considered), and class III (not recommended).

Many Symptoms Are Cardiomyopathy Related

Kaski and Arbelo both emphasized that the guidelines draw attention to the relationship of cardiomyopathy to common cardiovascular conditions, such as heart failure, arrhythmia, and chest pain. Kaski pointed out that these are the types of problems commonly encountered by general cardiologists and well as primary care physicians.

In 2014, the ESC published guidelines specific to HCM. The new broader guidelines do not overlook this subtype. According to Kaski, there have several innovations in HCM since the previous guidelines, such as when to consider cardiac myosin inhibitors for symptomatic left ventricular outflow tract obstruction.

The ESC guidelines place an emphasis on a "coordinated, systematic, and individualized" care pathway based on a multidisciplinary approach, according to Abelo. Although the composition of the interdisciplinary team depends on the individual case, the guidelines recognize a key role for general cardiologists in managing the majority of patients. Suggestions of when to refer challenging cases to expert centers are outlined.

32 Key Messages Derived From Guidelines

The guidelines include almost 90 pages of recommendations. The task force isolated 32 key messages from 13 sections ranging from descriptions of how the patient pathway is defined to what types of physical activity should be considered for different forms of cardiomyopathy. There is also a section devoted to important gaps in evidence and areas in which there is the most need for further studies.

The guidelines end with a comprehensive list of "what to do" and "what not to do" in the diagnosis and care of cardiomyopathy. These include most of the class I recommendations and summarize some important class III cautions.

"Most of the recommendations in the guideline are new," the authors write in the introduction. Although they acknowledged that they did not attempt to provide detailed recommendations for every cardiomyopathy phenotype, they have endeavored to cover general evaluation and management issues supported by relevant evidence.

Arbelo and Kaski have disclosed no relevant financial relationships.

European Society of Cardiology (ESC) Congress 2023: Presented August 25, 2023.

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