This retrospective single-center study aimed to define the prevalence, spectrum, and clinical associations of cardiac abnormalities in a pediatric cohort with neurofibromatosis type 1 (NF1). All 114 cases underwent baseline electrocardiography (ECG), echocardiography (ECHO), and blood pressure measurement. Additional investigations—Holter ECG, cardiac magnetic resonance imaging (MRI), and follow-up ECHO—were performed when clinically indicated. The study received institutional ethics approval and informed consent was obtained for participation and publication of clinical data where applicable.
The cohort included 114 pediatric patients (65 females, 49 males). The median age at NF1 diagnosis was 2.4 years (range 0.1–15.9 years). The mean age at first echocardiographic evaluation was 8.9 ± 4.5 years, and the mean age at last follow-up was 10.3 ± 4.5 years. These timepoints frame the baseline and short-term follow-up assessments reported.
After excluding isolated patent foramen ovale, cardiac abnormalities were identified on initial evaluation in 35 of 114 patients, representing 30.7% of the cohort. Among those with any abnormality, the distribution by type on initial ECHO was:
Valvular lesions were therefore the most frequent echocardiographic finding in this pediatric NF1 cohort.
Serial echocardiography was available for subsets of the cohort. Among children who underwent a second ECHO (n = 31), abnormalities were present in 18 (58%). Among those with a third ECHO (n = 12), abnormalities were present in 8 (66.7%). These figures indicate persistence or new detection of structural or functional cardiac findings over time in a notable proportion of patients who received follow-up imaging.
Ambulatory ECG monitoring was performed in 13 patients; Holter ECG detected atrial tachycardia in one case. Cardiac MRI was performed in five patients and revealed abnormalities in three. The report documents selective use of these modalities and notes that clinically relevant arrhythmia and MRI-detected structural abnormalities were uncommon but present in the evaluated subsets.
Medical and procedural management was required for a subset of patients. Eleven children received antihypertensive therapy for hypertension. Four patients underwent surgical or interventional cardiac procedures or had planned interventions:
These interventions illustrate the range of clinically significant cardiovascular disease that can occur in pediatric NF1, from hypertensive vascular disease to progressive valvular and myocardial pathology requiring surgery.
Statistical analysis in the cohort showed that final echocardiographic abnormalities did not have a significant association with NF1 diagnostic criteria or demographic parameters (p > 0.05). Antihypertensive treatment correlated with abnormal initial ECHO findings (p = 0.003), indicating that patients requiring blood pressure therapy commonly had detectable echocardiographic abnormalities at baseline. However, the authors report that no independent predictor of cardiac involvement was identified within the analyzed variables.
In this sizable pediatric NF1 cohort, cardiac abnormalities were detected in approximately 30.7% of patients at initial evaluation, with valvular disease the most common category. The findings encompassed congenital heart disease, vasculopathy, hypertension, and hypertrophic cardiomyopathy. Some patients required antihypertensive therapy or surgical/interventional treatment.
Because cardiac involvement in NF1 was relatively frequent, could evolve or persist on serial imaging, and was not reliably predicted by baseline clinical or demographic features, the authors conclude that regular cardiac screening and ongoing surveillance from childhood are warranted to permit early detection and optimal management and to reduce the risk of long-term complications. The study emphasizes the need for systematic cardiac evaluation in pediatric NF1, though it does not define a specific screening interval or standardized protocol; those details were not reported in the source abstract.
Limitations noted by implication in the reported data include retrospective design and selective use of Holter and cardiac MRI based on clinical indications; the source abstract does not provide detailed mortality, long-term functional outcomes, or precise interval recommendations for surveillance.