Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry
Cardiomyopathies are diseases that affect the heart muscle’s structure and function, and while well studied in adults, they are less characterized in children and adolescents. Therefore, this study established the first Europe-wide registry to systematically track and characterize cardiomyopathies in young people (1 to 18 years old).
A total of 633 patients were enrolled from 14 countries, with follow-up data available for most after one year.
The most common type of cardiomyopathy was hypertrophic cardiomyopathy (HCM), characterized by abnormal heart muscle thickness (61%), followed by dilated cardiomyopathy (DCM), where the heart becomes enlarged and weakened (33%). Less frequent were restrictive cardiomyopathy (RCM, 4%) and arrhythmogenic right ventricular cardiomyopathy (ARVC, 2%). Boys were slightly more affected than girls, and most diagnoses were made at about 4 years of age.
Nearly half of the patients (47%) had a family history of cardiomyopathy, and genetic testing—performed in about 68% cases—identified a likely disease-causing mutation (gene variant) in 60%. These genetic abnormalities were especially common in HCM and ARVC, often involving mutations in so-called sarcomeric protein genes. As a result, the structure and function of the proteins in the heart muscle are damaged.
Symptoms at the time of diagnosis were common, particularly in DCM and RCM, and included heart failure, syncope, and chest pain. Around 13% of included patients received an implantable cardioverter-defibrillator (ICD) to prevent sudden arrhythmic cardiac death, and a small number required a heart transplant or a ventricular assist device implantation, a mechanical pump to help a weakened heart pump blood to the rest of the body.
Outcomes varied significantly according to the type of cardiomyopathy. Indeed, children with RCM had the highest rates of heart failure and death (16% mortality within one year), while those with HCM had better outcomes. The study emphasizes that early diagnosis, genetic screening, and disease-specific treatment strategies are essential for improving survival and quality of life in children with cardiomyopathy.
This registry provides the most comprehensive picture to date of how cardiomyopathies affect children in Europe and supports a precision-medicine approach, which means that risk assessment and therapies are tailored to the patient based on individual disease characteristics and genetic findings.
Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP ; EORP Paediatric Cardiomyopathy Registry Investigators. Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EUR Observational Research Programme Cardiomyopathy and Myocarditis Registry. EurHeartJ.2024Mar1:ehae109.doi:10.1093/eurheartj/ehae109.Epubaheadofprint.PMID:38427064.
Prepared by Andrea Giordani (Padua) and Ruth Biller