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. 2024 Apr 21;45(16):1443-1454.
doi: 10.1093/eurheartj/ehae109.

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

Juan Pablo Kaski  1 , Gabrielle Norrish  1 , Juan Ramon Gimeno Blanes  2 , Philippe Charron  3 , Perry Elliott  4 , Luigi Tavazzi  5 , Michal Tendera  6 , Cécile Laroche  7 , Aldo P Maggioni  7   8 , Anwar Baban  9 , Diala Khraiche  10 , Lidia Ziolkowska  11 , Giuseppe Limongelli  12 , Tiina Ojala  13 , Matthias Gorenflo  14 , Aris Anastasakis  15 , Shaimaa Mostafa  16 , Alida L P Caforio  17 ; EORP Paediatric Cardiomyopathy Registry Investigators
Collaborators, Affiliations

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

Juan Pablo Kaski et al. Eur Heart J. .

Abstract

Background and aims: 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.

Methods: 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).

Results: 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%).

Conclusions: 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.

Keywords: Cardiomyopathy; Child; Genetics; Paediatric; Registry.

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Figures

Structured Graphical Abstract
Structured Graphical Abstract
Characteristics and outcomes of paediatric onset cardiomyopathy in a European population. HCM, hypertrophic cardiomyopathy; DCM, dilated cardiomyopathy; RCM, restrictive cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy.
Figure 1
Figure 1
Reasons for diagnosis for each cardiomyopathy subtype. HCM, hypertrophic cardiomyopathy; DCM, dilated cardiomyopathy; RCM, restrictive cardiomyopathy; ARVC, arrhythmogenic right ventricular cardiomyopathy; CA/SCD, cardiac arrest/sudden cardiac death
Figure 2
Figure 2
Frequency of rare disease causes in childhood cardiomyopathies. Proportion of rare disease causes across all age groups and cardiomyopathy subtypes. (A) Proportion of rare disease causes by cardiomyopathy subtype in patients diagnosed under 10 years of age. (B) Proportion of rare disease causes by cardiomyopathy subtype in patients diagnosed between 10 and 18 years of age. MFS, malformation syndrome; IEM, inborn error of metabolism; Mito, mitochondrial cytopathy; NMD, neuromuscular disorder; Chrom, chromosomal abnormality
Figure 3
Figure 3
Rate of combined events at 1-year follow-up for each subtype of cardiomyopathy
See this image and copyright information in PMC

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