Cardiomyopathies in children and adolescents: aetiology, management, and outcomes in the European Society of Cardiology EURObservational Research Programme Cardiomyopathy and Myocarditis Registry
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 ,   the EORP Paediatric Cardiomyopathy Registry Investigators, Ferrari R , Alonso A , Bax J , Blomström-Lundqvist C , Gielen S , Lancellotti P , Maggioni A P , Maniadakis N , Pinto F , Ruschitzka F , Tavazzi L , Vardas P , Weidinger F , Zeymer U , Vahanian A , Budaj A , Dagres N , Danchin N , Delgado V , Emberson J , Friberg O , Gale C P , Heyndrickx G , Iung B , James S , Kappetein A P , Maggioni A P , Maniadakis N , Nagy K V , Parati G , Petronio A-S , Pietila M , Prescott E , Ruschitzka F , Van de Werf F , Weidinger F , Zeymer U , Gale C P , Beleslin B , Budaj A , Chioncel O , Dagres N , Danchin N , Emberson J , Erlinge D , Glikson M , Gray A , Kayikcioglu M , Maggioni A P , Nagy K V , Nedoshivin A , Petronio A-P , Roos-Hesselink J W , Wallentin L , Zeymer U , Popescu B A , Adlam D , Caforio A L P , Capodanno D , Dweck M , Erlinge D , Glikson M , Hausleiter J , Iung B , Kayikcioglu M , Ludman P , Lund L , Maggioni A P , Matskeplishvili S , Meder B , Nagy K V , Nedoshivin A , Neglia D , Pasquet A A , Roos-Hesselink J W , Rossello F J , Shaheen S M , Torbica A , Caforio A lida , Blanes Juan Ramon Gimeno , Charron P hilippe , Elliott P erry , Kaski Juan Pablo , Maggioni Aldo P , Tavazzi Luigi , Tendera Michal , Komissarova S , Chakova N , Niyazova S , Mostafa S , Pihkala J , Ojala T , Hiippala A , Jarvinen T , Bonnet D , Khraiche D , Szezepanski I , Gorenflo M , Arnold R , Uhl S , Ziesenitz V , Jung A , Roesch E , Ilina M , Kaski J P , Norrish G , Field E , Anastasakis A , Ritsatos K , Vlagkouli V , Rammos S , Kourelis G , Vagenakis G , Papadopoulos G , Giannakopoulou A , Karanasios E , Papachristou P , Servos G , Biagini E , Corsini A , Gagliardi C , Graziosi M , Milandri A , Ragni L , Palmieri S , Calabro R , Pacileo G , Russo M G , Limongelli G , Caiazza M , Cirillo A , Del Giorno G , Esposito A , Tramonte S , Valente F , Gravino R , Marrazzo T , Masarone D , Pazzanese V , Rea A , Rubino M , Drago F , Baban A , Sinagra G , Carriere C , Merlo M , Ramani F , Bobbo M , Dagata B , Kavoliuniene A , Krivickiene A , Tamuleviciute-Prasciene E , Viezelis M , Asselbergs F W , De Jonge N , Kirkels J H , Van Der Heijden J , Van Laake L , Sammani A , Ajuluchukwu J , Olusegun-Joseph A , Ekure E , Brzezinska-Rajszys G , Ziolkowska L , Boruc A , Plodzien E , Zaklyazminskaya E , Dzemeshkevich S , Kolbasova E , Kotlukova N , Rusinova V , Cequier A , Salazar-Mendiguchia J , Gonzalez J , Manito N , Garcia-Pavia P , Briceno A , Cobo-Marcos M , Dominguez F , Gimeno Blanes J R , Castro F J , Munoz Esparza C , Sabater Molina M , Sorli García M , Lopez Cuenca D , Sanchez Fernandez P L , Villacorta E , Plata B , Avila C , Bravo L , Diaz-Pelaez E , Gallego-Delgado M , Garcia-Cuenllas L , Lopez-Haldon J E , Cantero Perez E M , Pena Pena M L 
Published: March 2024

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–&lt;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 &lt;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.