{"id":"45959","type":"article","url":"https://hartvaat.nl/2026/05/26/12-leads-ecg-onderscheidt-rasopathie-hcm-van-sarcomere-hcm-bij-kinderen-superieu/","title":"12-leads ECG onderscheidt RASopathie-HCM van sarcomere HCM bij kinderen — superieure asdeviatie en rechterventrikel-hypertrofie","title_en":"","category":"algemeen","category_label":"Algemeen","professions":["cardioloog"],"tags":[],"journal":"Heart","doi":"http://heart.bmj.com/cgi/content/short/112/12/692?rss=1","source_url":"https://doi.org/http://heart.bmj.com/cgi/content/short/112/12/692?rss=1","authors":["Boleti","O.","Sunjaya","A.","Field","E.","Norrish","G.","Tollit","J.","Cervi","E.","Kaski","J. P."],"significance":5,"published":"2026-07-04","source_date":"2026-05-26","image":"","kennis":["https://hartvaat.nl/kennis/cardiometabool/diabetes-en-cardiovasculair-risico/","https://hartvaat.nl/kennis/ritmestoornissen/ventrikelfibrilleren/"],"congress":"","summary_en":"Retrospective single-centre cohort study in 84 children with RASopathy-associated hypertrophic cardiomyopathy (RAS-HCM, e.g. Noonan syndrome) versus 113 children with sarcomeric HCM (s-HCM). RAS-HCM ECGs showed significantly more superior axis deviation (29.8% vs 2.5%; p<0.001) and voltage criteria for right ventricular hypertrophy (52.4% vs 28.3%; p<0.001), and significantly fewer pathological Q waves (27.4% vs 47.8%; p<0.001). Over a median follow-up of 6.8 years, 19 (22.6%) RAS-HCM patients experienced major adverse cardiovascular events (cardiovascular death, resuscitation, haemodynamically relevant ventricular arrhythmias, ICD shock, or HF hospitalisation). ST-segment changes >2 mm remained associated with MACE after adjustment (aRR 2.33; 95% CI 1.12-4.86; p=0.024). The 12-lead ECG may therefore serve as a simple discriminating test between RAS-HCM and s-HCM with additional prognostic value.","created":"2026-07-03T20:26:58Z","updated":"2026-07-04T11:28:44Z","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":"Retrospectieve single-center cohortstudie bij 84 kinderen met RASopathie-geassocieerde hypertrofische cardiomyopathie (RAS-HCM, bv. bij Noonan-syndroom) en 113 kinderen met sarcomere HCM (s-HCM). RAS-HCM-ECG's toonden significant vaker superieure asdeviatie (29,8% vs 2,5%; p<0,001) en voltage-criteria voor rechterventrikel-hypertrofie (52,4% vs 28,3%; p<0,001), en significant minder pathologische Q-toppen (27,4% vs 47,8%; p<0,001). Over mediane follow-up van 6,8 jaar traden bij 19 (22,6%) RAS-HCM-patiënten major adverse cardiovascular events op (cardiovasculaire sterfte, reanimatie, hemodynamisch relevante ventriculaire ritmestoornissen, ICD-shock of HF-opname). ST-segment veranderingen >2 mm bleven na correctie geassocieerd met MACE (aRR 2,33; 95%-BI 1,12-4,86; p=0,024). Het 12-leads ECG kan dus een eenvoudige onderscheidende test zijn tussen RAS-HCM en s-HCM met aanvullende prognostische waarde.","abstract_original":"<sec><st>Background</st>\n<p>The 12-lead ECG is a simple, inexpensive clinical tool with a key role in the assessment of patients with hypertrophic cardiomyopathy (HCM). The aims of this single centre, retrospective cohort study were to characterise ECG findings and to identify potential ECG predictors of major adverse cardiovascular events (MACE&mdash;cardiovascular mortality, resuscitated cardiac arrest, ventricular arrhythmias with haemodynamic compromise, appropriate implantable cardioverter defibrillator therapy or heart failure hospitalisation) in children with RASopathy-associated HCM (RAS-HCM).</p>\n</sec>\n<sec><st>Methods</st>\n<p>The resting 12-lead ECGs of 84 children with RAS-HCM were compared with those from 113 patients with sarcomeric HCM (s-HCM).</p>\n</sec>\n<sec><st>Results</st>\n<p>A significant proportion of ECGs in RAS-HCM had superior axis deviation (29.8% vs 2.5%, p value&lt;0.001) and voltage criteria for right ventricular hypertrophy (52.4% vs 28.3%, p value&lt;0.001), and a significantly lower prevalence of pathological Q waves (27.4% vs 47.8%, p value&lt;0.001). Over a median follow-up period of 6.8 years (3.1&ndash;9.7), 19 patients (22.6%) with RAS-HCM suffered an MACE. Right atrial enlargement and ST segment changes&gt;2 mm correlated with MACE on univariate analysis, with the latter remaining significant after adjustment in a multivariate model (adjusted relative risk (RR) 2.33, 95% CI 1.12 to 4.86, p value 0.024).</p>\n</sec>\n<sec><st>Conclusion</st>\n<p>These findings suggest that the 12-lead ECG may be a useful screening tool to distinguish RAS-HCM from s-HCM in everyday practice and could have potential implications for prediction of adverse outcomes.</p>\n</sec>"}