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First international guidelines on heart muscle diseases published today

Press releases may be edited for formatting or style | August 28, 2023 Cardiology
Amsterdam, Netherlands – 25 Aug 2023: The European Society of Cardiology (ESC) Guidelines on cardiomyopathies are published online today in European Heart Journal.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.

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

“At the core of this new Guideline are patients and their families, starting from the point at which an individual presents with symptoms, or as an incidental finding or because of a family history, and working through the pathway towards making a diagnosis and starting treatment,” said Guidelines task force chairperson Dr. Juan Pablo Kaski of University College London, UK.

Cardiomyopathies are conditions that affect the muscle of the heart. They are a group of conditions that can affect the heart’s structure, reduce its ability to pump blood around the body and cause abnormal heart rhythms. Cardiomyopathies can present at any age and affect patients and families across the life course. They are often caused by changes in the genes responsible for how the heart muscle cells function, meaning that they can run in families.

Overall, cardiomyopathies are relatively common, affecting around 1 in every 250 people. 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.

The Guidelines highlight the many areas of diagnosis and management that are shared across cardiomyopathy subtypes and gives specific recommendations for each. Diagnosis starts with a description of how the heart looks and behaves – is it thickened, dilated or scarred, and is the pumping function abnormal? – and then incorporates information on heart rhythm abnormalities, family history and genetic testing to arrive at a more precise diagnosis. Cardiomyopathy should be considered as the potential cause of other conditions such as heart failure. “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,” said Dr. Arbelo.

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