---
title: "Cardiac findings and follow-up in pediatric neurofibromatosis type 1: single-center cohort results"
id: "pubmed-42760384"
canonical_url: "https://medichelpline.com/clinical-feed/pubmed-42760384"
content_type: "clinical_feed_article"
specialty: "Oncology"
source_name: "PubMed / NCBI"
source_url: "https://pubmed.ncbi.nlm.nih.gov/42760384/"
doi: "10.1007/s00431-026-07417-0"
published_at: "2026-09-19T00:00:00.000Z"
evidence_level: "Journal Article"
license: "CC-BY-NC-4.0 / Informational Use"
---
# Cardiac findings and follow-up in pediatric neurofibromatosis type 1: single-center cohort results
## Provenance & Clinical Metadata
- **Canonical URL:** https://medichelpline.com/clinical-feed/pubmed-42760384
- **Specialty:** [Oncology](https://medichelpline.com/clinical-feed/oncology.md)
- **Primary Source:** PubMed / NCBI
- **Source URL:** [Original Journal Publication](https://pubmed.ncbi.nlm.nih.gov/42760384/)
- **DOI:** [10.1007/s00431-026-07417-0](https://doi.org/10.1007%2Fs00431-026-07417-0)
- **Published At:** 2026-09-19T00:00:00.000Z
- **Evidence Rating:** Journal Article
## Executive GIST (TL;DR)
- This retrospective single-center pediatric cohort evaluated cardiac involvement in **neurofibromatosis type 1 (NF1)** using ECG, **echocardiography**, blood pressure measurement, and selective Holter and cardiac MRI. - 114 children (65 females, 49 males) were included. Median age at NF1 diagnosis was 2.4 years (range 0.1–15.9). Mean age at first ECHO was 8.9 ± 4.5 years; mean age at last follow-up was 10.3 ± 4.5 years. - On initial assessment (excluding isolated patent foramen ovale), 35 of 114 patients (30.7%) had **cardiac abnormalities** detected by ECHO. - Abnormality types on initial ECHO: valvular (57.1% of abnormal cases), septal (17.1%), myocardial (14.3%), vascular (5.7%), and pulmonary (5.7%). - Among patients with repeat ECHO, abnormalities were present in 18/31 (58%) at the second assessment and 8/12 (66.7%) at the third assessment, indicating persistence or emergence over time in a substantial subset. - Holter monitoring (n = 13) detected atrial tachycardia in one patient. Cardiac MRI performed in five cases showed abnormalities in three. - Eleven patients received antihypertensive therapy. Four required surgical or interventional procedures: mitral valve replacement for progressive mitral regurgitation with prolapsus; aortorenal bypass for midaortic coarctation–related hypertension; balloon angioplasty for neonatal pulmonary stenosis; and a planned aortic valve replacement in a patient with aortic regurgitation, hypertrophic cardiomyopathy (HCM), and moyamoya syndrome. - Final echocardiographic abnormalities did not show a significant association with NF1 diagnostic or demographic parameters (p > 0.05). Antihypertensive treatment was associated with abnormal initial ECHO findings (p = 0.003), but no independent predictor for cardiac involvement was identified. - Authors conclude that cardiovascular abnormalities—including congenital heart disease, vasculopathy, **hypertension**, and **hypertrophic cardiomyopathy**—are common in pediatric NF1 and support regular cardiac screening and surveillance from childhood to enable early detection and management.
## Clinical Analysis & Structured Key Points
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Affiliations Expand ### Affiliations * 1 Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. dr_sibeloz@hotmail.com. * 2 Ministry of Health, Necip Fazıl City Hospital, Kahramanmaraş, Turkey. dr_sibeloz@hotmail.com. * 3 Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. * 4 Medipol Mega University Hospital, Istanbul, Turkey. * 5 Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. * PMID: **42760384** * DOI: [ 10.1007/s00431-026-07417-0 ](https://doi.org/10.1007/s00431-026-07417-0) Item in Clipboard # Cardiac involvement in neurofibromatosis type 1: real-world baseline and follow-up findings from a tertiary single-center cohort Sibel Öz Yıldız et al. Eur J Pediatr. 2026. Show details Display options Display options Format Abstract PubMed PMID Eur J Pediatr Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Eur+J+Pediatr%22%5Bjour%5D&sort=date&sort_order=desc) * [ Search in NLM Catalog ](https://www.ncbi.nlm.nih.gov/nlmcatalog?term=%22Eur+J+Pediatr%22%5BTitle+Abbreviation%5D) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) . 2026 Sep 19;185(10):765. doi: 10.1007/s00431-026-07417-0. ### Authors [Sibel Öz Yıldız](https://pubmed.ncbi.nlm.nih.gov/?term=%C3%96z+Y%C4%B1ld%C4%B1z+S&cauthor_id=42760384)[ 1 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-1 "Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. dr_sibeloz@hotmail.com.")[ 2 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-2 "Ministry of Health, Necip Fazıl City Hospital, Kahramanmaraş, Turkey. dr_sibeloz@hotmail.com."), [Maharram İmanlı](https://pubmed.ncbi.nlm.nih.gov/?term=%C4%B0manl%C4%B1+M&cauthor_id=42760384)[ 3 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-3 "Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.")[ 4 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-4 "Medipol Mega University Hospital, Istanbul, Turkey."), [Hayrettin Hakan Aykan](https://pubmed.ncbi.nlm.nih.gov/?term=Aykan+HH&cauthor_id=42760384)[ 3 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-3 "Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey."), [İlker Ertuğrul](https://pubmed.ncbi.nlm.nih.gov/?term=Ertu%C4%9Frul+%C4%B0&cauthor_id=42760384)[ 3 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-3 "Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey."), [Dilek Yalnızoğlu](https://pubmed.ncbi.nlm.nih.gov/?term=Yaln%C4%B1zo%C4%9Flu+D&cauthor_id=42760384)[ 5 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-5 "Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey."), [Göknur Haliloğlu](https://pubmed.ncbi.nlm.nih.gov/?term=Halilo%C4%9Flu+G&cauthor_id=42760384)[ 5 ](https://pubmed.ncbi.nlm.nih.gov/42760384/#short-view-affiliation-5 "Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.") ### Affiliations * 1 Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. dr_sibeloz@hotmail.com. * 2 Ministry of Health, Necip Fazıl City Hospital, Kahramanmaraş, Turkey. dr_sibeloz@hotmail.com. * 3 Department of Pediatrics, Division of Pediatric Cardiology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. * 4 Medipol Mega University Hospital, Istanbul, Turkey. * 5 Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Hacettepe University, Ankara, Turkey. * PMID: **42760384** * DOI: [ 10.1007/s00431-026-07417-0 ](https://doi.org/10.1007/s00431-026-07417-0) Item in Clipboard Cite Display options Display options Format Abstract PubMed PMID ## Abstract We aimed to assess the prevalence and spectrum of cardiac abnormalities and their associations with demographic and clinical parameters in a pediatric neurofibromatosis type 1 (NF1) cohort. One hundred fourteen NF1 cases (65 females, 49 males) underwent electrocardiography (ECG), echocardiography (ECHO), and blood pressure measurement; Holter ECG, cardiac MRI, and follow-up ECHO were performed when indicated. The median age at NF1 diagnosis was 2.4 (0.1-15.9) years; the mean age at first ECHO evaluation and the last follow-up was 8.9 ± 4.5 years and 10.3 ± 4.5 years, respectively. Abnormalities were identified on initial evaluation (35/114, 30.7%) after excluding isolated patent foramen ovale. Valvular abnormalities were the most common (57.1%), followed by septal (17.1%), myocardial (14.3%), vascular (5.7%), and pulmonary (5.7%) abnormalities. Among cases with repeat echocardiography, abnormalities were detected at second (18/31, 58%) and third (8/12, 66.7%) assessments. Holter ECG (n = 13) detected atrial tachycardia in one; cardiac MRI revealed abnormalities in three of five cases. Eleven cases received antihypertensive treatment, and four required surgical or interventional management, including mitral valve replacement for progressive mitral regurgitation with prolapsus, aortorenal bypass for midaortic coarctation-related hypertension, balloon angioplasty for neonatal pulmonary stenosis, and planned aortic valve replacement in a case with aortic regurgitation, hypertrophic cardiomyopathy (HCM), and moyamoya syndrome. Final ECHO abnormalities showed no significant association with NF1 diagnostic or demographic parameters (p > 0.05). Antihypertensive treatment was associated with abnormal initial ECHO findings (p = 0.003), but no independent predictor was identified. **Conclusion:** These data highlight that cardiovascular abnormalities are common in NF1 and include congenital heart disease, vasculopathy, hypertension, and HCM. Regular cardiac screening and surveillance are essential for early detection and optimal management to prevent long-term complications. **What is known:** • Cardiac abnormalities are described in NF1 but cardiac evaluation is not standardized. • NF1-related cardiovascular involvement includes congenital heart disease, vasculopathy, hypertension, and hypertrophic cardiomyopathy, but pediatric prevalence data are limited. **What is new:** • In one of the largest pediatric NF1 cohorts, cardiac abnormalities were identified in 30.7% of cases. • Cardiac involvement was not associated with NF1 clinical manifestations; although antihypertensive treatment was associated with abnormal initial echocardiographic findings, no independent predictor was identified, supporting the need for cardiac surveillance from childhood. **Keywords:** Cardiac screening; Cardiovascular abnormalities; Management; Neurofibromatosis type 1. © 2026. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature. [PubMed Disclaimer](https://pubmed.ncbi.nlm.nih.gov/disclaimer/) ## Conflict of interest statement Declarations. Ethics approval: This retrospective study was approved by Hacettepe University Institute of Health Sciences Non-Interventional Clinical Research Ethics Board (research number 23/214). Informed consent was obtained. All procedures were performed according to the Declaration of Helsinki. Consent for publication: Written informed consent for publication of clinical data and images was obtained from the caregivers of all cases whose data and images are presented in this article. Competing interests: The authors declare no competing interests. ## References 1. 1. Kallionpää RA, Uusitalo E, Leppävirta J, Pöyhönen M, Peltonen S, Peltonen J (2018) Prevalence of neurofibromatosis type 1 in the Finnish population. Genet Med 20(9):1082–1086 - [DOI](https://doi.org/10.1038/gim.2017.215) - [PubMed](https://pubmed.ncbi.nlm.nih.gov/29215653/) 2. 1. Lee TJ, Chopra M, Kim RH, Parkin PC, Barnett-Tapia C (2023) Incidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis. Orphanet J Rare Dis 18(1):292 - [DOI](https://doi.org/10.1186/s13023-023-02911-2) - [PubMed](https://pubmed.ncbi.nlm.nih.gov/37710322/) - [PMC](https://pmc.ncbi.nlm.nih.gov/articles/10500831/) 3. 1. Ferner RE, Gutmann DH (2013) Neurofibromatosis type 1 (NF1): diagnosis and management. Handb Clin Neurol 115:939–955 - [DOI](https://doi.org/10.1016/b978-0-444-52902-2.00053-9) - [PubMed](https://pubmed.ncbi.nlm.nih.gov/23931823/) 4. 1. Moodley M, Lopez KR (2024) Neurofibromatosis type 1 - an update. Semin Pediatr Neurol 52:101172 - [DOI](https://doi.org/10.1016/j.spen.2024.101172) - [PubMed](https://pubmed.ncbi.nlm.nih.gov/39622609/) 5. 1. Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45(5):575–8. Show all 37 references ## MeSH terms * Adolescent Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Adolescent%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Adolescent) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Child Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Child%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Child) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Child, Preschool Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Child%2C+Preschool%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Child%2C+Preschool) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Echocardiography Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Echocardiography%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Echocardiography) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Electrocardiography Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Electrocardiography%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Electrocardiography) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Electrocardiography, Ambulatory Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Electrocardiography%2C+Ambulatory%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Electrocardiography%2C+Ambulatory) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Female Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Female%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Female) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Follow-Up Studies Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Follow-Up+Studies%22%5BMeSH%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Follow-Up+Studies) * [ Add to Search ](https://pubmed.ncbi.nlm.nih.gov/42760384/) * Heart Diseases* / diagnosis Actions * [ Search in PubMed ](https://pubmed.ncbi.nlm.nih.gov/?term=%22Heart+Diseases%2Fdiagnosis%22%5BMAJR%5D&sort=date&sort_order=desc) * [ Search in MeSH ](https://www.ncbi.nlm.nih.gov/mesh?term=Heart+Diseases
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