High prevalence of familial and genetic disease in children with cardiomyopathies: baseline paediatric data from the ESC EORP Cardiomyopathy and Myocarditis registry
| Autor: | P. Charron, Perry M. Elliott, Luigi Tavazzi, M. Tendera, Cécile Laroche, A.G Maggioni, Esc Eorp Cardiomyopathy Registry Investigators, Alida L.P. Caforio, Juan Pablo Kaski, Juan R. Gimeno |
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| Rok vydání: | 2020 |
| Předmět: | |
| Zdroj: | European Heart Journal. 41 |
| ISSN: | 1522-9645 0195-668X |
| Popis: | Background Previous studies on paediatric cardiomyopathies have provided useful information on their epidemiology and clinical presentation but have been limited by a lack of detailed data on genetic testing and aetiology. Purpose The purpose of this study was to examine the frequency of familial and genetic disease among children with cardiomyopathy enrolled in the European Society of Cardiology (ESC) Cardiomyopathy and Myocarditis EORP Long-Term Registry (CMY-LT). Methods 633 individuals aged Results Overall, 253 patients (47% of those reported) had familial disease; in those diagnosed between 10 and 18 years of age, familial disease was most frequent in HCM and least frequent in DCM [57 (55%) vs 12 (32%); p=0.046]. Genetic testing was performed in 414 (68%) patients. In those diagnosed Conclusion This study confirms the heterogeneous aetiology of childhood cardiomyopathies and demonstrate a higher prevalence of familial disease than previously reported in paediatric populations. Genetic testing is performed in a high proportion of patients, with a high yield of reported causative variants. Funding Acknowledgement Type of funding source: None |
| Databáze: | OpenAIRE |
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