06/09/2023

The 2023 ESC Guidelines for the Management of Cardiomyopathies were presented at the European Congress of Cardiology, which took place in Amsterdam from August 25 to 28. Dr. Elena Arbelo, coordinator of the Cardiac Genetic Diseases and Sudden Arrhythmic Death Unit at Hospital Clinic de Barcelona, together with Dr. Juan Kaski, professor of pediatric inherited cardiovascular medicine at the University College of London, has led the development and presentation of this pioneering text. 

Cardiomyopathies are a group of diseases that affect the heart muscle’s ability to pump blood to the rest of the body, which may lead to abnormal heart rhythms and even heart failure. Although the etiology in some cases is unknown, these conditions are often caused by alterations in the genes responsible for regulating heart muscle cell function, meaning that they can be inherited. It is estimated that around 1 in 250 people suffer from some type of cardiomyopathy worldwide, being hypertrophic cardiomyopathy the most prevalent form. 

In this sense, one of the most relevant points of this new Guidelines is the fact that it "includes all cardiomyopathy subtypes and the first time that specific recommendations are made for cardiomyopathies other than hypertrophic cardiomyopathy" (HCM), Dr. Elena Arbelo said. The Guidelines include a detailed phenotypic description of the five main forms of cardiomyopathy, including updated descriptions of dilated and the new non-dilated left ventricular cardiomyopathy phenotypes. 

The recommendations highlight the numerous areas of diagnosis and treatment shared among the subtypes of cardiomyopathy and provide specific recommendations for each. Additionally, the structure of the Guidelines has been organized around the patient pathway, which implies that there is a special focus on describing a multiparametric approach to diagnose and evaluate patients with suspected cardiomyopathy, and hence identify its etiology and deliver treatment.  

The diagnosis process described by the Guidelines starts with an exploration of the heart's appearance and behavior, followed by the study of possible abnormalities in the heart’s rhythm, family history, and genetic testing looking for certain genetic variants that have already been related to certain forms of cardiomyopathies. Dr. Elena Arbelo states, “Imaging techniques including echocardiography and cardiac magnetic resonance imaging are essential for the diagnosis of certain subtypes and can help identify patients at risk of sudden death”. In increased-risk patients, an implantable cardioverter defibrillator (ICD) may be advised to prevent sudden death. Other treatments are intended to address symptoms.

The Guideline also recommends providing genetic counseling to patients and their relatives, helping them to understand the implications of the diagnosis of a genetic disease. Considering that some cardiomyopathy-associated mutations are inherited in an autosomal dominant manner, offspring may be at increased risk of inheriting them. As Dr. Kaskis stated, "Early diagnosis and treatment of family members can prevent disease progression in some cardiomyopathies and avoid complications."

Reference:

Arbelo E, Protonotarios A, Gimeno JR, et al. 2023 ESC Guidelines for the management of cardiomyopathies [published online ahead of print, 2023 Aug 25]. Eur Heart J. 2023;ehad194. doi:10.1093/eurheartj/ehad194

Autor: Eduardo Martin Ruiz