Cardiac involvement in neurofibromatosis type 1: real-world baseline and follow-up findings from a tertiary single-center cohort.
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UNLABELLED: 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.