Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry.
Cardiomyopathy
Child
Genetics
Paediatric
Registry
Journal
European heart journal
ISSN: 1522-9645
Titre abrégé: Eur Heart J
Pays: England
ID NLM: 8006263
Informations de publication
Date de publication:
01 Mar 2024
01 Mar 2024
Historique:
received:
18
01
2022
revised:
05
02
2024
accepted:
08
02
2024
medline:
1
3
2024
pubmed:
1
3
2024
entrez:
1
3
2024
Statut:
aheadofprint
Résumé
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.
Sections du résumé
BACKGROUND AND AIMS
OBJECTIVE
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
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
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
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.
Identifiants
pubmed: 38427064
pii: 7617193
doi: 10.1093/eurheartj/ehae109
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Abbott Vascular Int
Organisme : Amgen Cardiovascular
Organisme : AstraZeneca
Organisme : Bayer AG
Organisme : Boehringer Ingelheim
Organisme : Boston Scientific
Organisme : Bristol Myers Squibb
Organisme : Pfizer Alliance
Organisme : Daiichi Sankyo Europe GmbH
Organisme : Alliance Daiichi Sankyo Europe GmbH
Organisme : Eli Lilly and Company
Organisme : Edwards
Organisme : Gedeon Richter Plc
Organisme : Menarini Int. Op
Organisme : MSD-Merck & Co
Organisme : Novartis Pharma AG
Organisme : ResMed
Organisme : Sanofi
Organisme : SERVIER
Organisme : Vifor
Investigateurs
R Ferrari
(R)
A Alonso
(A)
J Bax
(J)
C Blomström-Lundqvist
(C)
S Gielen
(S)
P Lancellotti
(P)
A P Maggioni
(AP)
N Maniadakis
(N)
F Pinto
(F)
F Ruschitzka
(F)
L Tavazzi
(L)
P Vardas
(P)
F Weidinger
(F)
U Zeymer
(U)
A Vahanian
(A)
A Budaj
(A)
N Dagres
(N)
N Danchin
(N)
V Delgado
(V)
J Emberson
(J)
O Friberg
(O)
C P Gale
(CP)
G Heyndrickx
(G)
B Iung
(B)
S James
(S)
A P Kappetein
(AP)
A P Maggioni
(AP)
N Maniadakis
(N)
K V Nagy
(KV)
G Parati
(G)
A-S Petronio
(AS)
M Pietila
(M)
E Prescott
(E)
F Ruschitzka
(F)
F Van de Werf
(F)
F Weidinger
(F)
U Zeymer
(U)
C P Gale
(CP)
B Beleslin
(B)
A Budaj
(A)
O Chioncel
(O)
N Dagres
(N)
N Danchin
(N)
J Emberson
(J)
D Erlinge
(D)
M Glikson
(M)
A Gray
(A)
M Kayikcioglu
(M)
A P Maggioni
(AP)
K V Nagy
(KV)
A Nedoshivin
(A)
A-P Petronio
(AP)
J W Roos-Hesselink
(JW)
L Wallentin
(L)
U Zeymer
(U)
B A Popescu
(BA)
D Adlam
(D)
A L P Caforio
(ALP)
D Capodanno
(D)
M Dweck
(M)
D Erlinge
(D)
M Glikson
(M)
J Hausleiter
(J)
B Iung
(B)
M Kayikcioglu
(M)
P Ludman
(P)
L Lund
(L)
A P Maggioni
(AP)
S Matskeplishvili
(S)
B Meder
(B)
K V Nagy
(KV)
A Nedoshivin
(A)
D Neglia
(D)
A A Pasquet
(AA)
J W Roos-Hesselink
(JW)
F J Rossello
(FJ)
S M Shaheen
(SM)
A Torbica
(A)
A Lida Caforio
(AL)
Juan Ramon Gimeno Blanes
(JRG)
P Hilippe Charron
(PH)
P Erry Elliott
(PE)
Juan Pablo Kaski
(JP)
Aldo P Maggioni
(AP)
Luigi Tavazzi
(L)
Michal Tendera
(M)
S Komissarova
(S)
N Chakova
(N)
S Niyazova
(S)
S Mostafa
(S)
J Pihkala
(J)
T Ojala
(T)
A Hiippala
(A)
T Jarvinen
(T)
D Bonnet
(D)
D Khraiche
(D)
I Szezepanski
(I)
M Gorenflo
(M)
R Arnold
(R)
S Uhl
(S)
V Ziesenitz
(V)
A Jung
(A)
E Roesch
(E)
M Ilina
(M)
J P Kaski
(JP)
G Norrish
(G)
E Field
(E)
A Anastasakis
(A)
K Ritsatos
(K)
V Vlagkouli
(V)
S Rammos
(S)
G Kourelis
(G)
G Vagenakis
(G)
G Papadopoulos
(G)
A Giannakopoulou
(A)
E Karanasios
(E)
P Papachristou
(P)
G Servos
(G)
E Biagini
(E)
A Corsini
(A)
C Gagliardi
(C)
M Graziosi
(M)
A Milandri
(A)
L Ragni
(L)
S Palmieri
(S)
R Calabro
(R)
G Pacileo
(G)
M G Russo
(MG)
G Limongelli
(G)
M Caiazza
(M)
A Cirillo
(A)
G Del Giorno
(G)
A Esposito
(A)
S Tramonte
(S)
F Valente
(F)
R Gravino
(R)
T Marrazzo
(T)
D Masarone
(D)
V Pazzanese
(V)
A Rea
(A)
M Rubino
(M)
F Drago
(F)
A Baban
(A)
G Sinagra
(G)
C Carriere
(C)
M Merlo
(M)
F Ramani
(F)
M Bobbo
(M)
B Dagata
(B)
A Kavoliuniene
(A)
A Krivickiene
(A)
E Tamuleviciute-Prasciene
(E)
M Viezelis
(M)
F W Asselbergs
(FW)
N De Jonge
(N)
J H Kirkels
(JH)
J Van Der Heijden
(J)
L Van Laake
(L)
A Sammani
(A)
J Ajuluchukwu
(J)
A Olusegun-Joseph
(A)
E Ekure
(E)
G Brzezinska-Rajszys
(G)
L Ziolkowska
(L)
A Boruc
(A)
E Plodzien
(E)
E Zaklyazminskaya
(E)
S Dzemeshkevich
(S)
E Kolbasova
(E)
N Kotlukova
(N)
V Rusinova
(V)
A Cequier
(A)
J Salazar-Mendiguchia
(J)
J Gonzalez
(J)
N Manito
(N)
P Garcia-Pavia
(P)
A Briceno
(A)
M Cobo-Marcos
(M)
F Dominguez
(F)
J R Gimeno Blanes
(JR)
F J Castro
(FJ)
C Munoz Esparza
(C)
M Sabater Molina
(M)
M Sorli García
(M)
D Lopez Cuenca
(D)
P L Sanchez Fernandez
(PL)
E Villacorta
(E)
B Plata
(B)
C Avila
(C)
L Bravo
(L)
E Diaz-Pelaez
(E)
M Gallego-Delgado
(M)
L Garcia-Cuenllas
(L)
J E Lopez-Haldon
(JE)
E M Cantero Perez
(EM)
M L Pena Pena
(ML)
Informations de copyright
© The Author(s) 2024. Published by Oxford University Press on behalf of the European Society of Cardiology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.