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Contemporary practice and resource availability for genetic testing in paediatric hypertrophic cardiomyopathy

jmedgenet · 2025-07-21 · canonical JSON source

4 visible annotations · policy: published · automated confidence ≥ 75.00%

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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