ArticleESC heart failure2024
Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.
Article in ESC heart failure, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Pooled it
- Targeting Interleukin-8-Mediated Cellular Crosstalk Reverses Hypertrophic Cardiomyopathy and Cardiac Fibrosis in Noonan Syndrome.Circulation · 2026Article
- Clinical consensus guidelines for the management of Noonan syndrome in Japan.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Impact of RASopathy subtype on the early disease course of RASopathy-associated hypertrophic cardiomyopathy: clinical outcomes and genetic insights.Pediatric research · 2026Article
- Characterisation and prognostic implications of the 12-lead electrocardiogram in children with RASopathy-associated hypertrophic cardiomyopathy.Heart (British Cardiac Society) · 2026Article
- Childhood-onset RASopathy-associated hypertrophic cardiomyopathy, diastolic dysfunction, and arrhythmias.European heart journal · 2026Article
- Clinical characteristics and etiology-specific outcome in pediatric hypertrophic cardiomyopathy.Clinical research in cardiology : official journal of the German Cardiac Society · 2026Article
- Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.European journal of human genetics : EJHG · 2026Article
- Heart Failure in the Modern Era: A Narrative Overview of Recent Research from 2022-2025.Journal of cardiovascular development and disease · 2025Review
- A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification.International journal of molecular sciences · 2025Article
- Cardiovascular aspects of Noonan syndrome and related disorders.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2025Article
- Costello Syndrome Complicated by Midventricular Obstruction With an Apical Aneurysm.Circulation reports · 2025Article
- Developing a risk prediction model for sudden cardiac death in children with hypertrophic cardiomyopathy.Frontiers in pediatrics · 2025Article
- Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.ESC heart failure · 2024Article
Corrections and comments
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Authors and funding
29 authors at 15 institutions in 3 countries.
Funding
Abstract
aimsThis study aimed to describe the natural history and predictors of all-cause mortality and sudden cardiac death (SCD)/equivalent events in children with a RASopathy syndrome and hypertrophic cardiomyopathy (HCM). METHODS AND
resultsThis is a retrospective cohort study from 14 paediatric cardiology centres in the United Kingdom and Ireland. We included children <18 years with HCM and a clinical and/or genetic diagnosis of a RASopathy syndrome [Noonan syndrome (NS), NS with multiple lentigines (NSML), Costello syndrome (CS), cardiofaciocutaneous syndrome (CFCS), and NS with loose anagen hair (NS-LAH)]. One hundred forty-nine patients were recruited [111 (74.5%) NS, 12 (8.05%) NSML, 6 (4.03%) CS, 6 (4.03%) CFCS, 11 (7.4%) Noonan-like syndrome, and 3 (2%) NS-LAH]. NSML patients had higher left ventricular outflow tract (LVOT) gradient values [60 (36-80) mmHg, P = 0.004]. Over a median follow-up of 197.5 [inter-quartile range (IQR) 93.58-370] months, 23 patients (15.43%) died at a median age of 24.1 (IQR 5.6-175.9) months. Survival was 96.45% [95% confidence interval (CI) 91.69-98.51], 90.42% (95% CI 84.04-94.33), and 84.12% (95% CI 75.42-89.94) at 1, 5, and 10 years, respectively, but this varied by RASopathy syndrome. RASopathy syndrome, symptoms at baseline, congestive cardiac failure (CCF), non-sustained ventricular tachycardia (NSVT), and maximal left ventricular wall thickness were identified as predictors of all-cause mortality on univariate analysis, and CCF, NSVT, and LVOT gradient were predictors for SCD or equivalent event.
conclusionsThese findings highlight a distinct category of patients with Noonan-like syndrome with a milder HCM phenotype but significantly worse survival and identify potential predictors of adverse outcome in patients with RASopathy-related HCM.
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