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

European Heart Journal

1 March 2024
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ESC Journals VALVULAR, MYOCARDIAL, PERICARDIAL, PULMONARY, CONGENITAL HEART DISEASE Myocardial Disease

Abstract

AbstractBackground 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.

Contributors

Juan Pablo Kaski
Juan Pablo Kaski

Author

University College London London , United Kingdom of Great Britain & Northern Ireland

Perry Elliott
Perry Elliott

Author

University College London London , United Kingdom of Great Britain & Northern Ireland

E Ekure
E Ekure

Author

Aldo P Maggioni
Aldo P Maggioni

Author

Heart Care Foundation Florence , Italy

A Boruc
A Boruc

Author

Giuseppe Limongelli
Giuseppe Limongelli

Author

University of Campania Luigi Vanvitell Naples , Italy

Tiina Ojala
Tiina Ojala

Author

Helsinki University Central Hospital Helsinki , Finland

N Manito
N Manito

Author

Shaimaa Mostafa
Shaimaa Mostafa

Author

Benha Faculty of Medicine Benha , Egypt

Alida L P Caforio
Alida L P Caforio

Author

University of Padua Padova , Italy

B Plata
B Plata

Author

A Alonso
A Alonso

Author

C Avila
C Avila

Author

J Bax
J Bax

Author

L Bravo
L Bravo

Author

S Gielen
S Gielen

Author

F Pinto
F Pinto

Author

P Vardas
P Vardas

Author

U Zeymer
U Zeymer

Author

A Budaj
A Budaj

Author

N Dagres
N Dagres

Author

C P Gale
C P Gale

Author

B Iung
B Iung

Author

S James
S James

Author

K V Nagy
K V Nagy

Author

G Parati
G Parati

Author

U Zeymer
U Zeymer

Author

C P Gale
C P Gale

Author

A Budaj
A Budaj

Author

N Dagres
N Dagres

Author

A Gray
A Gray

Author

K V Nagy
K V Nagy

Author

U Zeymer
U Zeymer

Author

D Adlam
D Adlam

Author

M Dweck
M Dweck

Author

B Iung
B Iung

Author

P Ludman
P Ludman

Author

L Lund
L Lund

Author

B Meder
B Meder

Author

K V Nagy
K V Nagy

Author

D Neglia
D Neglia

Author

T Ojala
T Ojala

Author

D Bonnet
D Bonnet

Author

R Arnold
R Arnold

Author

S Uhl
S Uhl

Author

A Jung
A Jung

Author

E Roesch
E Roesch

Author

M Ilina
M Ilina

Author

E Field
E Field

Author

S Rammos
S Rammos

Author

G Servos
G Servos

Author

L Ragni
L Ragni

Author

A Rea
A Rea

Author

M Rubino
M Rubino

Author

F Drago
F Drago

Author

A Baban
A Baban

Author

M Merlo
M Merlo

Author

F Ramani
F Ramani

Author

M Bobbo
M Bobbo

Author

B Dagata
B Dagata

Author