Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry

• Published in: European heart journal Vol. 45; no. 16; pp. 1443 - 1454
• Main Authors: Kaski, Juan Pablo, Norrish, Gabrielle, Gimeno Blanes, Juan Ramon, Charron, Philippe, Elliott, Perry, Tavazzi, Luigi, Tendera, Michal, Laroche, Cécile, Maggioni, Aldo P, Baban, Anwar, Khraiche, Diala, Ziolkowska, Lidia, Limongelli, Giuseppe, Ojala, Tiina, Gorenflo, Matthias, Anastasakis, Aris, Mostafa, Shaimaa, Caforio, Alida L P
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 21.04.2024
• Subjects: Adolescent; Cardiology; Cardiomyopathies - epidemiology; Cardiomyopathies - genetics; Cardiomyopathies - therapy; Cardiomyopathy, Hypertrophic - diagnosis; Child; Child, Preschool; Clinical Research; Female; Humans; Infant; Infant, Newborn; Male; Myocarditis - epidemiology; Myocarditis - etiology; Myocarditis - therapy; Prospective Studies; Registries; Paediatric; Genetics; Registry; Cardiomyopathy; Child
• ISSN: 0195-668X; 1522-9645; 1522-9645
• DOI: 10.1093/eurheartj/ehae109

Childhood-onset cardiomyopathies are rare and poorly characterized. This study examined the baseline characteristics and 1-year follow-up of children with cardiomyopathy in the first European Cardiomyopathy Registry. Prospective data were collected on individuals aged 1-<18 years enrolled in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis long-term registry (June 2014-December 2016). A total of 633 individuals aged ≤18 years with hypertrophic [HCM; n = 388 (61.3%)], dilated [DCM; n = 206 (32.5%)], restrictive [RCM; n = 28 (4.4%)], and arrhythmogenic right ventricular cardiomyopathy [ARVC; n = 11 (1.7%)] were enrolled by 23 referral centres in 14 countries. Median age at diagnosis was 4.0 [interquartile range (IQR) 0-10] years, and there was a male predominance [n = 372 (58.8%)] across all subtypes, with the exception of DCM diagnosed <10 years of age; 621 (98.1%) patients were receiving cardiac medication and 80 (12.6%) had an implantable cardioverter-defibrillator. A total of 253 patients (253/535, 47.3%) had familial disease. Genetic testing was performed in 414 (67.8%) patients with a pathogenic or likely pathogenic variant reported in 250 (60.4%). Rare disease phenocopies were reported in 177 patients (28.0%) and were most frequent in patients under 10 years [142 (30.9%) vs. 35 (19.6%); P = .003]. Over a median follow-up of 12.5 months (IQR 11.3-15.3 months), 18 patients (3.3%) died [HCM n = 9 (2.6%), DCM n = 5 (3.0%), RCM n = 4 (16.0%)]. Heart failure events were most frequent in RCM patients (36.0%). The findings confirm the heterogeneous aetiology of childhood cardiomyopathies and show a high frequency of familial disease. Outcomes differed by cardiomyopathy subtype, highlighting a need for disease-specific evaluation and treatment.