Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy
The 2023 European Society of Cardiology (ESC) Guideline for the Management of Cardiomyopathies and the 2024 American Heart Association (AHA)/American College of Cardiology (ACC)/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy (HCM)1 2 now recommend routine genetic te...
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| Main Authors: | , , , |
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| Format: | Article (Journal) Editorial |
| Language: | English |
| Published: |
16 May 2025
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| In: |
Journal of medical genetics
Year: 2025, Volume: 62, Issue: 8, Pages: 528-530 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmg-2025-110696 |
| Online Access: | Verlag, kostenfrei, Volltext: https://doi.org/10.1136/jmg-2025-110696 Verlag, kostenfrei, Volltext: https://jmg.bmj.com/content/62/8/528 
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| Author Notes: | Christoph Sandmann, Sabine Klaassen, Juan Pablo Kaski, Gabrielle Norrish, on behalf of the International Paediatric Hypertrophic Cardiomyopathy Consortium investigators |
MARC
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| 245 | 1 | 0 | |a Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy |c Christoph Sandmann, Sabine Klaassen, Juan Pablo Kaski, Gabrielle Norrish, on behalf of the International Paediatric Hypertrophic Cardiomyopathy Consortium investigators |
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| 520 | |a The 2023 European Society of Cardiology (ESC) Guideline for the Management of Cardiomyopathies and the 2024 American Heart Association (AHA)/American College of Cardiology (ACC)/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy (HCM)1 2 now recommend routine genetic testing for all children fulfilling diagnostic criteria for HCM. Guideline recommendations on phenotype description and the use of cardiac MR imaging have resulted in a change in clinical practice, but whether the same applies to genetic testing in childhood HCM is unknown.3 To understand current resource availability and clinical genetic testing practice, we performed a survey of centres caring for children with HCM within the International Paediatric Hypertrophic Cardiomyopathy Consortium (IPHCC), a large geographically diverse consortium of expert paediatric cardiomyopathy providers.4 - - An electronic survey was distributed to all members of the IPHCC (number of centres=42) between May 2024 and August 2024, of whom 34 centres from 14 countries (figure 1A) responded (online supplemental table 1). 20 centres (59%) were colocated with adult services and the number of HCM patients seen annually varied (<50 n=15 (44%), 50-100 n=10 (29%), >100 n=6 (18%), no information n=3 (9%)) (figure 1B). A third of centres reported an increase in the frequency of genetic testing (n=11, 32%) following changes in guideline recommendations1 2 (figure 1C). As a result, the majority (n=32, 94%) routinely offer genetic testing to all patients meeting diagnostic criteria for HCM (figure 1D). The provider of genetic testing varied across centres (geneticist n=16 (47%), cardiologist n=5 (15%), geneticist and cardiologist n=13 (38%) (figure 1E) and only two-thirds (n=20, 59%) routinely offer pretest genetic counselling (figure 1F). For most centres, genetic testing is funded by the health service or government (n=29, 78%), with a smaller number funded by health insurance (n=3, 8%) or the patient themselves (n=5, 15%). | ||
| 650 | 4 | |a Cardiomyopathies | |
| 650 | 4 | |a Genetic Diseases, Inborn | |
| 650 | 4 | |a Genetic Testing | |
| 650 | 4 | |a Genetics, Medical | |
| 650 | 4 | |a Pediatrics | |
| 700 | 1 | |a Klaassen, Sabine |e VerfasserIn |4 aut | |
| 700 | 1 | |a Kaski, Juan Pablo |e VerfasserIn |4 aut | |
| 700 | 1 | |a Norrish, Gabrielle |e VerfasserIn |4 aut | |
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