ArticlePediatric research2026
Impact of RASopathy subtype on the early disease course of RASopathy-associated hypertrophic cardiomyopathy: clinical outcomes and genetic insights.
Article in Pediatric research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundGenetic mutations causing dysregulation of the RAS/mitogen-activated protein kinase pathway contribute to hypertrophic cardiomyopathy (HCM). Genotype-phenotype associations in this population remain poorly understood. This study aimed to evaluate the impact of RASopathy subtype on cardiovascular outcomes.
methodsWe included 24 patients diagnosed with RAS signaling pathway mutations and HCM (RAS-HCM) before age 18. Data on sociodemographic, prenatal, clinical, genetic, and echocardiographic parameters were retrospectively collected from medical records spanning 2004-2024. Death, heart failure (HF), transplant (Ts), and use of implantable cardioverter defibrillator (ICD) were also evaluated.
resultsMedian age at HCM diagnosis was 0.42 years (IQR 7.1); median follow-up was 8.5 years. Patients were classified into Noonan syndrome (62.5%) and other RASopathies (37.5%). Pathogenic mutations were identified in PTPN11 (38%), RAF1 and BRAF (17% each), and SOS1 and RIT1 (13% each). Patients with Noonan syndrome underwent significantly more therapeutic strategies (p = 0.026). Increased end-diastolic interventricular septal thickness (IVSd) and left ventricular posterior wall thickness (LVPWd) were linked to the development of HF (p = 0.006, p = 0.007; respectively), while increased IVSd was associated with higher mortality (p = 0.013).
conclusionsEchocardiographic parameters (IVSd and LVPWd), and RASopathy subtype may serve as prognostic indicators in pediatric RAS-HCM patients. Further studies are warranted to elucidate the underlying molecular mechanisms. IMPACT: Demonstrates that RASopathy subtype may influence hypertrophic cardiomyopathy (HCM) progression and clinical outcomes in pediatric patients. Identifies end-diastolic interventricular septal thickness (IVSd) and left ventricular posterior wall thickness (LVPWd) as critical echocardiographic predictors of heart failure and cardiac mortality from early stages. Supports early genetic testing and echocardiographic monitoring to guide personalized care in pediatric RASopathies.
Identifiers
42448910What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.