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Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib

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Plexiform neurofibromas are benign neoplasms that develop in 20–50% children with neurofibromatosis type 1 (NF1). Selumetinib was approved as treatment for symptomatic and inoperable plexiform neurofibromas. Subclinical left ventricular ejection fraction reduction is a less common effect of selumetinib.


We aimed to investigate the contractile function of the heart in a cohort of children with NF1 treated with selumetinib.


We designed a cross-sectional study including 17 patients with NF1 who received selumetinib. Echocardiographic parameters were compared with a cohort of 17 healthy children matched by sex and age and another group of 17 children with untreated NF1.


Compared with healthy controls, patients with NF1 treated with selumetinib had lower mean values of global longitudinal strain (− 22.9 ± 2% vs −25.5 ± 2%; p = 0.001), fractional shortening (36 ± 4% vs 43 ± 8%; p = 0.02) and tricuspid annular plane systolic excursion (19 ± 3 mm vs 23 ± 2 mm; p = 0.001); no difference was found in left ventricular ejection fraction (63 ± 4% vs 65 ± 3%; p = 0.2 respectively). Median treatment time with selumetinib at the time of the echocardiographic evaluation was 22 ± 16 months.


Patients with NF1 treated with selumetinib may experience subtle changes in systolic function identified by global longitudinal strain and not revealed by left ventricular ejection fraction. Global longitudinal strain might be useful to monitor cardiac function in this cohort of patients for the duration of therapy.

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Correspondence to Thomas Caiffa.

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Conflicts of Interest

Thomas Caiffa, Antimo Tessitore, Andrea Magnolato, Matilde Petz, Marco Bobbo, Daniela Chicco, Biancamaria D’Agata Mottolese, Aldostefano Porcari, Egidio Barbi, Gianfranco Sinagra and Irene Bruno have no conflicts of interest that are directly relevant to the content of this article.

Ethics Approval

Ethics committee approval was not requested according to the Italian Law (Authorization no. 9/2014).

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We received informed consent from the patients’ parents and the patients themselves.

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We received informed consent from the patients’ parents and the patients themselves.

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All relevant data are included in the article and/or its supplementary information files. All other data supporting the study (such as radiological photos or images) are available from the corresponding author upon request.

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Authors’ Contributions

AT and TC wrote the first draft of the manuscript. TC, MB, DC and BDAM collected and processed the data. MP reviewed the literature. EB, AM, IB, AP and GS critically revised the manuscript for relevant intellectual content. All authors read and approved the final manuscript.

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Caiffa, T., Tessitore, A., Magnolato, A. et al. Characterization of Cardiac Function by Echocardiographic Global Longitudinal Strain in a Cohort of Children with Neurofibromatosis Type 1 Treated with Selumetinib. Pediatr Drugs 25, 217–224 (2023).

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