{"id":"b063624a5b9d","type":"article","url":"https://hartvaat.nl/2026/05/12/massieve-lvh-bij-pediatrische-hcm-vroeger-diagnose-vaker-sarcomere-variant-driev/","title":"Massieve LVH bij pediatrische HCM: vroeger diagnose, vaker sarcomere variant, drievoudig verhoogde sterfte","title_en":"","category":"hartfalen","category_label":"Hartfalen","professions":["cardioloog","internist"],"tags":["gedilateerde-cardiomyopathie","heart-failure-2026","hypertrofische-cardiomyopathie","iaso-dcm","laminopathie","vrouwen"],"journal":"Circulation","doi":"10.1161/CIRCULATIONAHA.126.078843","source_url":"https://doi.org/10.1161/CIRCULATIONAHA.126.078843","authors":["Robert Przybylski","Gabrielle Norrish","Brian Claggett","Euan A. Ashley","Vinay Bhole"],"significance":7,"published":"2026-05-12","source_date":"2026-05-12","image":"","kennis":["https://hartvaat.nl/kennis/hartfalen/icd-bij-hartfalen/","https://hartvaat.nl/kennis/hartfalen/rechtsventrikelfalen/"],"congress":"heart-failure-2026","summary_en":"Multi-registry analysis (SHaRe + IPHCC, n=587, of which 186 had massive LVH defined as MLVWT ≥30 mm or z-score ≥+20). Massive LVH in pediatric HCM is associated with younger age at diagnosis (median 9.2 vs 13.6 years; p<0.001), higher sarcomeric variant prevalence (72% vs 61%; p=0.034), and 3.3-fold higher HCM-related mortality (95% CI 1.2–9.7; p=0.026). Supports earlier, more aggressive surveillance and intervention thresholds in this subgroup.","created":"2026-07-03T10:32:55Z","updated":"2026-07-03T13:31:50Z","licence":"Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.","body_markdown":"Multiregistry-analyse uit SHaRe (Sarcomeric Human Cardiomyopathy Registry) en IPHCC (International Paediatric HCM Consortium): 587 kinderen met pediatrisch begin van HCM, waarvan 186 met massieve LVH (maximale wanddikte ≥30 mm of z-score ≥+20). Encounters 1960–2024 (SHaRe) en 1970–2024 (IPHCC). Massieve LVH was geassocieerd met jongere leeftijd bij diagnose (mediaan 9,2 vs 13,6 jaar; p<0,001), vaker sarcomere genetische varianten (72% vs 61%; p=0,034), en significant hogere HCM-gerelateerde sterfte (HR 3,3; 95% BI 1,2–9,7; p=0,026). Major ventriculaire aritmie en hartfalen-events traden ook significant vaker op. Conclusie: massieve LVH bij pediatrische HCM markeert een subgroep met fundamenteel andere — gendrijver en prognose-rijker — fenotypering. Pleit voor vroegere interventie en intensievere surveillance, bijvoorbeeld lagere drempel voor ICD-implantatie of vroege myectomie/aficamten-behandeling. Belangrijk voor multidisciplinaire HCM-poliklinieken met kindercardiologische tak.","abstract_original":"BACKGROUND: Massive left ventricular hypertrophy (LVH) is a risk factor for sudden cardiac death in children with hypertrophic cardiomyopathy (HCM), but little is understood about its natural history. METHODS: Patients with pediatric-onset HCM identified from two registries (SHaRe [Sarcomeric Human Cardiomyopathy Registry] and IPHCC [International Paediatric Hypertrophic Cardiomyopathy Consortium]) with or without massive LVH were compared. Massive LVH was defined as absolute maximal left ventricular wall thickness ≥30 mm or MLVWT z-score ≥+20 at age <18. Data from SHaRe and IPHCC include encounters from January 1960 through March 2024 and January 1970 through March 2024 respectively. Demographic, clinical, and serial MLVWT data were collected. RESULTS: 587 patients were identified (54 female [30%]; 186 with massive LVH). Children with massive LVH were diagnosed younger (median 9.2 years [IQR 2.1–13.1] vs 13.6 [9.7–15.5]; p<0.001), more often had sarcomeric variants (72% vs 61%; p=0.034), and showed higher HCM-related mortality (unadjusted HR 3.3; 95% CI 1.2–9.7; p=0.026). Major ventricular arrhythmia events and HF events were also significantly more frequent. CONCLUSIONS: Massive LVH in pediatric HCM is associated with earlier diagnosis, more sarcomeric variants, and a markedly worse prognosis — supporting earlier intervention and more intensive surveillance in this subgroup."}