ArticleScientific reports2020
Functional and morphological cardiovascular alterations associated with neurofibromatosis 1.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- A coordinated shift toward a macrocytic and hypochromic erythrocyte phenotype in adults with neurofibromatosis type 1.JID innovations : skin science from molecules to population health · 2026Article
- Unraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.European journal of pediatrics · 2026Article
- [A case report of giant neurofibromatosis of maxillofacial, neck and chest was treated by multidisciplinary cooperation].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?The international journal of cardiovascular imaging · 2024Article
- Multiparametric cardiovascular magnetic resonance characteristics and dynamic changes in asymptomatic heart-transplanted patients.European radiology · 2023Article
- RASopathies and cardiac manifestations.Frontiers in cardiovascular medicine · 2023Review
- Effect of Extra Virgin Olive Oil and Butter on Endothelial Function in Type 1 Diabetes.Nutrients · 2021Article
- Severe Phenotype in Patients with Large Deletions ofCancers · 2021Article
- Hypertension in Children and Adolescents with Turner Syndrome (TS), Neurofibromatosis 1 (NF1), and Williams Syndrome (WS).Current hypertension reports · 2021Review
- Article
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Subjects with Neurofibromatosis 1 (NF1) develop vascular complications. The protein product of the gene affected in NF1, neurofibromin, physiologically modulates endothelial function and preserves vascular and myocardial structure. Our study aimed to verify whether subjects with NF1 have early, preclinical abnormalities of carotid artery structure, brachial artery function, and cardiac function. We recruited 22 NF1 subjects without previous cardiovascular events and 22 healthy control subjects. All subjects underwent measurement of carotid artery intima-media thickness (IMT), evaluation of brachial artery endothelial function after ischemia and exercise, and cardiac function. Mean IMT was 543 ± 115 μ in NF1 subjects and 487 ± 70 μ in Controls (p < 0.01). Endothelial function was significantly dumped in NF1 subjects. The dilation after ischemia and exercise was respectively 7.5(± 4.8)% and 6.7(± 3.0)% in NF1 versus 10.5(± 1.2)% and 10.5(± 2.1)% in control subjects (p < 0.02; p < 0.002). Left ventricular systolic function assessed by Global Longitudinal Strain was significantly different between NF1 subjects and Controls: - 19.3(± 1.7)% versus - 21.5(± 2.7)% (p < 0.008). These findings demonstrate that NF1 patients have early morphological and functional abnormalities of peripheral arteries and systolic cardiac impairment and suggest the need for a tight cardiovascular risk evaluation and primary prevention in subjects with NF1.
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